rs1553255354 in ACTA1 gene and Muscle hypotonia

PMID 26507755 2015 Review of Cardiac Disease in Nemaline Myopathy.

PMID 11333380 2001 Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

PMID 15468086 2004 Actin mutations are one cause of congenital fibre type disproportion.

PMID 19562689 2009 Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

PMID 23650303 2013 Nemaline myopathy with dilated cardiomyopathy in childhood.

PMID 25890230 2015 Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.

PMID 12601110 2003 Clinical course correlates poorly with muscle pathology in nemaline myopathy.

PMID 15236405 2004 Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

PMID 16967490 2007 Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.

rs1553732126 in ADCY5 gene and Muscle hypotonia

PMID 27061943 2016 Phenotypic insights into ADCY5-associated disease.

PMID 27052971 2016 Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

PMID 26686870 2016 ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

PMID 8511718 1993 Discrete expression of Ca2+/calmodulin-sensitive and Ca(2+)-insensitive adenylyl cyclases in the rat brain.

PMID 25790160 2015 A genome sequencing program for novel undiagnosed diseases.

PMID 8415621 1993 Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies.

PMID 28511835 2017 ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

PMID 26537056 2015 ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

PMID 28229249 2017 ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

PMID 8429907 1993 Cloning and expression of an adenylyl cyclase localized to the corpus striatum.

PMID 12223546 2002 Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase.

PMID 24700542 2014 Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

PMID 12503609 2003 Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.

PMID 12665504 2003 Motor dysfunction in type 5 adenylyl cyclase-null mice.

PMID 10051231 1999 D1- and D2-like dopamine receptors are co-localized on the presynaptic varicosities of striatal and nucleus accumbens neurons in vitro.

PMID 25193033 2014 Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases.

PMID 26085604 2015 ADCY5 mutations are another cause of benign hereditary chorea.

PMID 25379658 2014 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.

PMID 1618857 1992 Isolation and characterization of a novel cardiac adenylylcyclase cDNA.

PMID 22782511 2012 Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

PMID 22539851 2012 Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia.

PMID 23449625 2013 Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

rs142684762 in ADGRG1 gene and Muscle hypotonia

PMID 21708946 2011 The N terminus of the adhesion G protein-coupled receptor GPR56 controls receptor signaling activity.

PMID 24531968 2014 Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.

PMID 25642806 2015 Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.

PMID 25607655 2015 The adhesion G protein-coupled receptor GPR56 is a cell-autonomous regulator of oligodendrocyte development.

PMID 21349848 2011 Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.

PMID 23981349 2014 Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria.

PMID 16240336 2005 Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

PMID 20929962 2010 GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

PMID 19016831 2009 Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.

PMID 12730993 2003 Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

rs886041116 in ADNP gene and Muscle hypotonia

PMID 26637798 2015 Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

PMID 26845707 2016 Comprehensive molecular testing in patients with high functioning autism spectrum disorder.

PMID 24531329 2014 A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

PMID 25169753 2014 The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

PMID 28221363 2017 Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 27031564 2016 Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

PMID 25057125 2014 Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.

PMID 11013255 2001 Cloning and characterization of the human activity-dependent neuroprotective protein.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

rs766413410 in AGK gene and Muscle hypotonia

PMID 22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

PMID 22284826 2012 Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

PMID 25208612 2014 Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

PMID 22415731 2012 Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

PMID 28868593 2017 Mutation in the AGK gene in two siblings with unusual Sengers syndrome.

PMID 23266196 2013 Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

rs587776935 in AKT3 gene and Muscle hypotonia

PMID 21159799 2011 A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice.

PMID 15627943 2004 Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 10208883 1999 Identification of a human Akt3 (protein kinase B gamma) which contains the regulatory serine phosphorylation site.

PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

PMID 28190287 2017 A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.

PMID 25523067 2015 Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

rs778127154 in ALDH5A1 gene and Muscle hypotonia

PMID 16298354 2005 Inherited disorders of neurotransmitters in children and adults.

PMID 26268900 2015 Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

PMID 12743223 2003 Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

PMID 19172412 2009 Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

PMID 7726383 1994 4-Hydroxybutyric aciduria.

PMID 27268762 2016 Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

rs368820286 in ALDH7A1 gene and Muscle hypotonia

PMID 17088338 2007 Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.

PMID 16491085 2006 Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

PMID 8913181 1996 Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient.

PMID 20554659 2010 Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

PMID 18762976 2009 Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.

PMID 19142996 2009 Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

PMID 17068770 2007 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

PMID 23350806 2013 Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.

PMID 16159904 2005 Epidemiology of pyridoxine dependent seizures in the Netherlands.

rs767350733 in ALS2 gene and Muscle hypotonia

PMID 12145748 2002 Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

PMID 12601111 2003 Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.

PMID 11586297 2001 The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.

PMID 24562058 2014 ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

PMID 1606479 1992 Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

rs137852217 in AMER1 gene and Muscle hypotonia

PMID 28497491 2017 Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

PMID 20209645 2010 Osteopathia striata with cranial sclerosis owing to WTX gene defect.

PMID 20950377 2011 Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

PMID 22043478 2011 The male phenotype in osteopathia striata congenita with cranial sclerosis.

PMID 20679664 2010 WTX mutations can occur both early and late in the pathogenesis of Wilms tumour.

PMID 19079258 2009 Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

PMID 7004677 1980 Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases.

PMID 8723089 1996 Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.

rs1555528357 in ANKRD11 gene and Muscle hypotonia

PMID 15523620 2004 KBG syndrome in a cohort of Italian patients.

PMID 17163996 2006 KBG syndrome.

PMID 25652421 2016 Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

PMID 17508425 2007 Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

PMID 23494856 2013 Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.

PMID 15184363 2004 Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.

PMID 23184435 2013 Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.

PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

PMID 23885231 2013 Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.

PMID 25424714 2015 Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

PMID 25413698 2015 Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

PMID 21782149 2011 Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

PMID 25125236 2014 Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

PMID 17230487 2007 KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.

PMID 27667800 2016 Clinical and genetic aspects of KBG syndrome.

PMID 28422132 2017 Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

PMID 27435318 2016 Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

rs1553259463 in AP4B1 gene and Muscle hypotonia

PMID 25693842 2016 Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

PMID 24700674 2014 Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

PMID 23472171 2013 A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

PMID 19559397 2009 Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

PMID 24395635 2014 Adaptor proteins involved in polarized sorting.

PMID 22290197 2012 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

PMID 25552650 2015 Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

PMID 20972249 2011 Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PMID 23167973 2013 Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.

rs142209254 in AP4B1-AS1;AP4B1 gene and Muscle hypotonia

PMID 19559397 2009 Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PMID 22290197 2012 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

PMID 20972249 2011 Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

PMID 23167973 2013 Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.

PMID 25552650 2015 Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

PMID 23472171 2013 A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

PMID 24700674 2014 Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

PMID 24395635 2014 Adaptor proteins involved in polarized sorting.

PMID 25693842 2016 Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

rs149705131 in AP4B1;AP4B1-AS1 gene and Muscle hypotonia

PMID 24395635 2014 Adaptor proteins involved in polarized sorting.

PMID 24700674 2014 Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

PMID 25552650 2015 Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

PMID 25693842 2016 Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

PMID 23167973 2013 Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.

PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PMID 22290197 2012 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

PMID 23472171 2013 A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

PMID 20972249 2011 Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

PMID 19559397 2009 Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

rs755820725 in AP4S1 gene and Muscle hypotonia

PMID 25552650 2015 Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

PMID 27444738 2016 Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.

PMID 20972249 2011 Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PMID 24395635 2014 Adaptor proteins involved in polarized sorting.

PMID 23472171 2013 A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

PMID 23167973 2013 Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.

PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

PMID 24700674 2014 Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

PMID 28150420 2017 A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.

PMID 19559397 2009 Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

rs1554226131 in ARID1B gene and Muscle hypotonia

PMID 25169814 2014 The ARID1B phenotype: what we have learned so far.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 24569609 2014 Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

PMID 26376624 2015 De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 25674384 2015 ARID1B-mediated disorders: Mutations and possible mechanisms.

PMID 26395437 2016 Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

PMID 21801163 2012 Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.

PMID 24674232 2014 Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

PMID 22405089 2012 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

PMID 28867767 2017 Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice.

PMID 20086098 2010 Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.

PMID 6499251 1984 The Coffin-Siris syndrome: report of a family and further delineation.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 11170086 2001 Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

PMID 16691594 2006 Autosomal dominant syndrome resembling Coffin-Siris syndrome.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

rs1556055108 in ARX gene and Muscle hypotonia

PMID 19439424 2009 Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.

PMID 12379852 2002 Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.

PMID 14722918 2004 Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

PMID 10398246 1999 Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.

PMID 11971879 2002 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

PMID 3177452 1988 X-linked mental retardation with dystonic movements of the hands.

PMID 20506206 2010 ARX spectrum disorders: making inroads into the molecular pathology.

PMID 25044608 2014 Whole ARX gene duplication is compatible with normal intellectual development.

PMID 27781032 2016 Genetic Basis of Brain Malformations.

PMID 17668384 2007 A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

PMID 23246292 2013 A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

PMID 28150386 2017 An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

PMID 22252899 2012 Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.

PMID 1605226 1992 New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.

rs765530357 in ASPM gene and Muscle hypotonia

PMID 15806441 2005 Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

PMID 22775483 2013 Genetic heterogeneity in Pakistani microcephaly families.

PMID 19332161 2009 Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

PMID 27250695 2016 Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

PMID 20978018 2010 A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

PMID 16141009 2005 ASPM mutations identified in patients with primary microcephaly and seizures.

PMID 19028728 2009 The molecular landscape of ASPM mutations in primary microcephaly.

PMID 18452193 2008 Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

rs1555912285 in ASXL1 gene and Muscle hypotonia

PMID 22419483 2012 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

PMID 25921057 2015 Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

PMID 22436456 2012 Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.

PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

PMID 26364555 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

PMID 21368916 2011 Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

rs1555742500 in ASXL3 gene and Muscle hypotonia

PMID 23383720 2013 De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.

PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

PMID 28100473 2017 Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

PMID 27901041 2017 Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

PMID 26647312 2016 De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

PMID 28955728 2017 Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 24044690 2013 De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

rs1555859593 in ATP1A3 gene and Muscle hypotonia

PMID 19652145 2009 Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

PMID 16632466 2006 Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.

PMID 11020638 2000 Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.

PMID 24468074 2014 A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

PMID 24436111 2014 Cognitive impairment in rapid-onset dystonia-parkinsonism.

PMID 23483595 2013 The multiple faces of the ATP1A3-related dystonic movement disorder.

PMID 25656163 2015 Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

PMID 24123283 2014 Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

PMID 24996492 2014 Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

PMID 25359261 2015 Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

PMID 28293679 2017 Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

PMID 22924536 2012 ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

PMID 22850527 2012 Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

PMID 24739246 2014 Distinct neurological disorders with ATP1A3 mutations.

PMID 29184165 2017 ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

PMID 8496742 1993 Alternating hemiplegia of childhood.

PMID 2842249 1988 Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.

PMID 22933743 2012 Psychiatric disorders in rapid-onset dystonia-parkinsonism.

PMID 22534615 2012 New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

PMID 26410222 2015 Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

PMID 22842232 2012 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

PMID 27091223 2016 The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

PMID 25996915 2015 Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

PMID 15260953 2004 Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

PMID 25895915 2015 CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

PMID 26297560 2015 Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

rs1557196978 in ATP6AP1 gene and Muscle hypotonia

PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1156904586 in ATP8A2 gene and Muscle hypotonia

PMID 28454995 2017 A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.

PMID 22892528 2013 Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

PMID 22912588 2012 Mutations in a P-type ATPase gene cause axonal degeneration.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 27679995 2016 New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

rs1557082399 in ATRX gene and Muscle hypotonia

PMID 12858175 2003 Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).

PMID 11015451 2000 ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

PMID 24805811 2015 Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

PMID 16722615 2006 Alpha thalassaemia-mental retardation, X linked.

PMID 16118346 2006 X linked mental retardation: a clinical guide.

PMID 11050622 2000 Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

PMID 12116232 2002 Expanding phenotype of XNP mutations: mild to moderate mental retardation.

PMID 18409179 2008 Mutations in the chromatin-associated protein ATRX.

PMID 12032728 2002 Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

PMID 19005673 2009 ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells.

PMID 16813605 2006 Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

PMID 12673795 2003 Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

PMID 28371197 2017 A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

PMID 21653732 2011 Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.

PMID 28371217 2017 Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

PMID 1415255 1992 X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

PMID 10602370 1999 Germline and gonosomal mosaicism in the ATR-X syndrome.

PMID 10570185 1999 Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.

PMID 10398237 1999 Carpenter-Waziri syndrome results from a mutation in XNP.

PMID 10417298 1999 Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

PMID 24289169 2014 Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.

rs757347274 in B3GALNT2 gene and Muscle hypotonia

PMID 24084573 2014 B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.

PMID 23453667 2013 Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

rs549625604 in BBS10 gene and Muscle hypotonia

PMID 20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 10874630 1999 New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

PMID 20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PMID 11179009 2001 Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

PMID 17980398 2008 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

PMID 16823392 2006 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

PMID 20876674 2011 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 22713813 2013 Bardet-Biedl syndrome.

PMID 21209035 2011 Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

rs567573386 in BBS2 gene and Muscle hypotonia

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 17574030 2007 A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

PMID 22713813 2013 Bardet-Biedl syndrome.

rs1553352926 in BCL11A gene and Muscle hypotonia

PMID 25938782 2015 BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

PMID 26182416 2015 Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25979662 2016 Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 27453576 2016 BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

PMID 28960836 2018 BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.

PMID 22491945 2012 Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development.

PMID 28589569 2018 Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 23230003 2012 Bcl11a is essential for lymphoid development and negatively regulates p53.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 24810580 2014 De novo microdeletion of BCL11A is associated with severe speech sound disorder.

PMID 16704730 2006 Functional studies of BCL11A: characterization of the conserved BCL11A-XL splice variant and its interaction with BCL6 in nuclear paraspeckles of germinal center B cells.

PMID 17964244 2007 Area patterning of the mammalian cortex.

PMID 11347906 2001 Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PMID 10744719 2000 Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors.

PMID 19616629 2009 Bcl11A/CTIP1 regulates expression of DCC and MAP1b in control of axon branching and dendrite outgrowth.

PMID 20623620 2010 X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth.

PMID 11161790 2000 Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells.

PMID 17021036 2006 COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth.

PMID 12196208 2002 COUP-TF (chicken ovalbumin upstream promoter transcription factor)-interacting protein 1 (CTIP1) is a sequence-specific DNA binding protein.

PMID 15548577 2004 The COUP-TF nuclear receptors regulate cell migration in the mammalian basal forebrain.

PMID 12717432 2003 Bcl11a is essential for normal lymphoid development.

PMID 15465497 2004 CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis.

rs1314314373 in BCL11B gene and Muscle hypotonia

PMID 26453795 2016 BCL11B regulates sutural patency in the mouse craniofacial skeleton.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 25511173 2015 BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development.

PMID 25232744 2014 De novo TBR1 mutations in sporadic autism disrupt protein functions.

PMID 19251658 2009 Ctip2/Bcl11b controls ameloblast formation during mammalian odontogenesis.

PMID 21912641 2011 Genome-wide identification of Bcl11b gene targets reveals role in brain-derived neurotrophic factor signaling.

PMID 23112752 2012 Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

PMID 22629441 2012 BCL11B regulates epithelial proliferation and asymmetric development of the mouse mandibular incisor.

PMID 23144223 2012 A network of genetic repression and derepression specifies projection fates in the developing neocortex.

PMID 22450536 2012 Role of the transcription factor Bcl11b in development and lymphomagenesis.

PMID 24458984 2014 TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

PMID 17631058 2007 Expression of COUP-TF-interacting protein 2 (CTIP2) in mouse skin during development and in adulthood.

PMID 19092943 2009 Dual role of COUP-TF-interacting protein 2 in epidermal homeostasis and permeability barrier formation.

PMID 18831712 2009 BCL11B enhances TCR/CD28-triggered NF-kappaB activation through up-regulation of Cot kinase gene expression in T-lymphocytes.

PMID 21878675 2011 The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia.

PMID 12565905 2003 Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas.

PMID 15664173 2005 Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo.

PMID 15465497 2004 CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis.

PMID 16091750 2005 BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter.

rs1554931219 in BDNF;BDNF-AS gene and Muscle hypotonia

PMID 18753648 2008 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.

PMID 28397838 2018 Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

PMID 11579207 2001 Conditional deletion of brain-derived neurotrophic factor in the postnatal brain leads to obesity and hyperactivity.

PMID 21567907 2011 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.

PMID 19577647 2009 New insights into the role of brain-derived neurotrophic factor in synaptic plasticity.

PMID 23044507 2012 Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.

rs121913348 in BRAF gene and Muscle hypotonia

PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

PMID 5771505 1969 Multiple lentigenes syndrome.

PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

PMID 4386970 1968 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.

PMID 16825433 2006 The cardiofaciocutaneous syndrome.

PMID 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

PMID 23875798 2013 The RASopathies.

rs80359541 in BRCA2 gene and Muscle hypotonia

PMID 21568838 2011 Fanconi anemia: at the crossroads of DNA repair.

PMID 9497246 1998 Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.

PMID 15796958 2005 BRCA1 and pancreatic cancer: pedigree findings and their causal relationships.

PMID 16141007 2005 Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.

PMID 12677558 2003 Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.

PMID 21952622 2011 BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

PMID 18042939 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.

PMID 17416853 2007 Meta-analysis of BRCA1 and BRCA2 penetrance.

PMID 15197194 2004 Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.

rs1553693712 in BRPF1 gene and Muscle hypotonia

PMID 27939639 2017 Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

PMID 27939640 2017 Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

rs80338686 in BTD gene and Muscle hypotonia

PMID 26810761 2016 Forty-eight novel mutations causing biotinidase deficiency.

PMID 22698809 2012 Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.

PMID 17382128 2007 Hearing loss in biotinidase deficiency: genotype-phenotype correlation.

PMID 9654207 1998 Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

PMID 27657684 2017 Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.

PMID 27014582 2016 First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice.

PMID 11668630 2001 Mutations in BTD causing biotinidase deficiency.

PMID 13680408 2003 A case of partial biotinidase deficiency associated with autism.

PMID 26577040 2016 Clinical utility gene card for: Biotinidase deficiency-update 2015.

PMID 22241090 2012 "Biotinidase deficiency: ""if you have to have an inherited metabolic disease, this is the one to have""."

rs1057520918 in CACNA1A gene and Muscle hypotonia

PMID 8988170 1997 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

PMID 26814174 2016 Eye movement disorders are an early manifestation of CACNA1A mutations in children.

PMID 28742085 2017 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 18940563 2008 Stepwise developmental regression associated with novel CACNA1A mutation.

PMID 3358708 1988 Magnetic resonance imaging in familial paroxysmal ataxia.

PMID 22249839 2012 Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

PMID 23441182 2013 Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

PMID 18541804 2008 Large CACNA1A deletion in a family with episodic ataxia type 2.

PMID 19811514 2010 Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.

PMID 23831250 2013 Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.

PMID 25758715 2015 Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

PMID 20682717 2010 A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

PMID 20204399 2010 CaV2.1 channelopathies.

PMID 18498393 2008 CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.

PMID 23771276 2013 The International Classification of Headache Disorders, 3rd edition (beta version).

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 20097664 2010 Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

PMID 17142831 2007 The genetic spectrum of a population-based sample of familial hemiplegic migraine.

PMID 8898206 1996 Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

PMID 20129625 2010 Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

PMID 17575281 2007 Primary episodic ataxias: diagnosis, pathogenesis and treatment.

PMID 20156848 2010 Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

PMID 20233618 2010 A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.

PMID 21183743 2011 Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.

PMID 9559993 1998 SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.

PMID 9403487 1997 Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

PMID 16325861 2006 Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.

PMID 9005860 1997 Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.

PMID 19484318 2009 The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.

PMID 9436730 1998 Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

PMID 9302278 1997 Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

PMID 17495624 2007 Migraine: gene mutations and functional consequences.

PMID 15483044 2004 Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

PMID 15300451 2004 Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.

PMID 12707077 2003 Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

PMID 9879686 1998 Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.

PMID 1564484 1992 Familial paroxysmal ataxia: report of a family.

PMID 15710862 2005 Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

PMID 11723274 2001 Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.

PMID 16043807 2005 New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.

PMID 14718690 2004 Clinical spectrum of episodic ataxia type 2.

PMID 11179022 2001 Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.

PMID 16595610 2006 C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.

PMID 11564488 2001 Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

rs1287121256 in CAMK2A gene and Muscle hypotonia

PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554385305 in CAMK2B gene and Muscle hypotonia

PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 11994750 2002 The molecular basis of CaMKII function in synaptic and behavioural memory.

rs1553238271 in CAMTA1 gene and Muscle hypotonia

PMID 17537720 2007 A potential dimerization region of dCAMTA is critical for termination of fly visual response.

PMID 24145135 2014 Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.

PMID 22031302 2011 Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

PMID 17470457 2007 Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.

PMID 16678093 2006 The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases.

PMID 24738973 2015 Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.

PMID 25049392 2014 Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor.

PMID 22693284 2012 Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

rs1553845569 in CC2D2A gene and Muscle hypotonia

PMID 26729329 2016 Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

PMID 19777577 2009 CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

PMID 19058225 2009 MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

PMID 27959436 2017 Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.

rs1555721837 in CCDC151 gene and Muscle hypotonia

PMID 8071978 1994 Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).

PMID 12627427 2003 Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome.

PMID 25192045 2014 CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

PMID 14656747 2004 Primary ciliary dyskinesia: diagnostic and phenotypic features.

PMID 24577564 2014 Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

PMID 9298603 1997 Treatment of otitis media with effusion in children with primary ciliary dyskinesia.

PMID 25224326 2014 Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.

rs1057519632 in CDK13 gene and Muscle hypotonia

PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

PMID 25560765 2015 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

PMID 24999027 2014 Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression.

PMID 27479907 2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 29222009 2018 Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.

PMID 29021403 2018 Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1555951954 in CDKL5 gene and Muscle hypotonia

PMID 23583054 2013 CDKL5 and ARX mutations in males with early-onset epilepsy.

PMID 24564546 2014 Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.

PMID 22872100 2013 The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

PMID 25266480 2014 Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

PMID 27528505 2016 Functional abilities in children and adults with the CDKL5 disorder.

PMID 26708753 2016 Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

PMID 22670135 2012 CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

PMID 24916645 2015 GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.

PMID 22678952 2012 Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.

PMID 15492925 2004 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

PMID 19793311 2009 Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

PMID 19471977 2009 Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.

PMID 23151060 2013 Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.

PMID 19241098 2009 Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.

PMID 22779007 2012 What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.

PMID 21775177 2011 Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.

PMID 18266744 2008 The three stages of epilepsy in patients with CDKL5 mutations.

rs1555379911 in CHAMP1 gene and Muscle hypotonia

PMID 21063390 2011 CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment.

PMID 26340335 2015 De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 26751395 2016 De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

PMID 27148580 2016 De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

rs1554599036 in CHD7 gene and Muscle hypotonia

PMID 25472840 2014 Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 22461308 2012 Mutation update on the CHD7 gene involved in CHARGE syndrome.

PMID 22539353 2012 A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

PMID 23883829 2013 CHD7 gene polymorphisms and familial idiopathic scoliosis.

PMID 26590800 2016 Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

PMID 21532573 2011 Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 21378379 2011 CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

PMID 10590394 1999 CHARGE Association in newborns: a registry-based study.

PMID 17299439 2007 CHARGE syndrome: an update.

PMID 14626219 2003 Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies.

PMID 18834967 2008 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 16400610 2006 Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

PMID 16155193 2006 CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

PMID 15300250 2004 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

PMID 17661815 2007 Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

PMID 15666308 2005 Updated diagnostic criteria for CHARGE syndrome: a proposal.

PMID 20186815 2010 Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

PMID 20130577 2010 CHD7 cooperates with PBAF to control multipotent neural crest formation.

rs1555314736 in CHD8 gene and Muscle hypotonia

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 22083958 2012 Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 21447119 2011 Genetic and expressional alterations of CHD genes in gastric and colorectal cancers.

PMID 18378692 2008 CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 23835524 2013 CHD8 is an independent prognostic indicator that regulates Wnt/β-catenin signaling and the cell cycle in gastric cancer.

rs137852803 in CHRNA1 gene and Muscle hypotonia

PMID 18252226 2008 Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

PMID 25305004 2014 Inherited disorders of the neuromuscular junction: an update.

PMID 15079006 2004 Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

PMID 18806275 2008 hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.

rs746480833 in CHRNB2;LOC107985206 gene and Muscle hypotonia

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

rs1555773554 in CIC gene and Muscle hypotonia

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 24307393 2014 Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

PMID 28263302 2017 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

PMID 28288114 2017 Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

rs1554767313 in CIZ1;DNM1 gene and Muscle hypotonia

PMID 23781021 2013 Building a fission machine--structural insights into dynamin assembly and activation.

PMID 9294229 1997 A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans.

PMID 7877694 1995 Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding.

PMID 8290576 1994 Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues.

PMID 7877693 1995 Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 28667181 2017 DNM1 encephalopathy: A new disease of vesicle fission.

PMID 8360266 1993 A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis.

PMID 19633650 2009 Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin.

PMID 7962076 1994 Induction of mutant dynamin specifically blocks endocytic coated vesicle formation.

PMID 22233676 2012 Dynamin, a membrane-remodelling GTPase.

PMID 6304244 1983 Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila.

PMID 26611353 2016 De novo DNM1 mutations in two cases of epileptic encephalopathy.

PMID 21927001 2011 The crystal structure of dynamin.

PMID 21441247 2011 SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 10074457 1999 Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain.

PMID 22099461 2011 Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission.

PMID 20700442 2010 A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.

PMID 1674590 1991 Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic.

PMID 21102612 2010 Mitochondrial fusion and fission in cell life and death.

PMID 19665976 2009 A class of dynamin-like GTPases involved in the generation of the tubular ER network.

PMID 21926968 2011 Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

PMID 23092955 2013 Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

PMID 20428113 2010 G domain dimerization controls dynamin's assembly-stimulated GTPase activity.

PMID 18250322 2008 Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons.

PMID 11553700 2001 Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages.

PMID 19502294 2009 Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

PMID 1832879 1991 Predominant and developmentally regulated expression of dynamin in neurons.

PMID 15509649 2004 OPA1 requires mitofusin 1 to promote mitochondrial fusion.

PMID 1828536 1991 Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis.

PMID 17460227 2007 A lethal defect of mitochondrial and peroxisomal fission.

PMID 11879655 2002 Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice.

PMID 14985377 2004 Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

PMID 12509422 2003 Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.

PMID 17463283 2007 A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis.

PMID 15731758 2005 Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

rs1366421988 in CLN8 gene and Muscle hypotonia

PMID 27844444 2017 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

PMID 26657971 2015 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.

rs1555605688 in CLTC gene and Muscle hypotonia

PMID 15858577 2005 Clathrin is required for the function of the mitotic spindle.

PMID 9147638 1997 Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

PMID 1063406 1976 Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 11955450 2002 Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release.

PMID 9671304 1998 Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins.

PMID 23911319 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 26822784 2016 CLTC as a clinically novel gene associated with multiple malformations and developmental delay.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 16982422 2006 Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses.

PMID 24234437 2014 ClinVar: public archive of relationships among sequence variation and human phenotype.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 24870542 2014 A draft map of the human proteome.

PMID 20206336 2010 Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

PMID 15217342 2004 The synaptic vesicle cycle.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 18762582 2008 Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake.

PMID 22831640 2012 Diversity of clathrin function: new tricks for an old protein.

PMID 16618797 2006 Requirement of clathrin heavy chain for p53-mediated transcription.

PMID 8375651 1993 The Drosophila clathrin heavy chain gene: clathrin function is essential in a multicellular organism.

PMID 22511880 2012 Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

rs768663992 in CLUAP1 gene and Muscle hypotonia

PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

rs1555806893 in CNOT3;LOC102724273 gene and Muscle hypotonia

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 28263302 2017 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

PMID 23280189 2013 The Not3/5 subunit of the Ccr4-Not complex: a central regulator of gene expression that integrates signals between the cytoplasm and the nucleus in eukaryotic cells.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 21897366 2011 Obesity resistance and increased hepatic expression of catabolism-related mRNAs in Cnot3+/- mice.

PMID 10637334 2000 Isolation and characterization of human orthologs of yeast CCR4-NOT complex subunits.

PMID 17273961 2007 Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.

PMID 11696541 2002 Interaction between Not1p, a component of the Ccr4-not complex, a global regulator of transcription, and Dhh1p, a putative RNA helicase.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 26637982 2015 TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

PMID 26821858 2016 The Ccr4-Not complex is a key regulator of eukaryotic gene expression.

PMID 12215531 2002 The Ccr4-not complex and yTAF1 (yTaf(II)130p/yTaf(II)145p) show physical and functional interactions.

PMID 20371351 2010 A global in vivo Drosophila RNAi screen identifies NOT3 as a conserved regulator of heart function.

rs1554168326 in COL12A1 gene and Muscle hypotonia

PMID 24334604 2014 Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

PMID 24334769 2014 Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.

rs1555573789 in COL1A1 gene and Muscle hypotonia

PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

PMID 10739762 2000 Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

PMID 13431894 1957 Infantile cortical hyperostosis; a review of the clinical and radiographic features.

PMID 15864348 2005 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

PMID 24964776 2014 Osteogenesis imperfecta: diagnosis and treatment.

PMID 6876111 1983 Heterogeneity of osteogenesis imperfecta type I.

PMID 28668235 2017 Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

PMID 10073586 1999 Ehlers-Danlos syndrome type VII: clinical features and molecular defects.

PMID 20087402 2010 Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.

PMID 23735642 2013 Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age.

PMID 24715559 2014 Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

PMID 24891183 2015 COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

PMID 22174522 2011 A rare variant of Caffey's disease - X-rays, bone scan and FDG PET findings.

PMID 22570641 2011 Osteogenesis Imperfecta: A Review with Clinical Examples.

PMID 9295084 1997 Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

PMID 23047998 2012 Caffey disease in neonatal period: the importance of the family!

PMID 24389367 2014 Caffey disease: new perspectives on old questions.

PMID 21801164 2012 Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

PMID 23522764 2013 Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years?

PMID 21344539 2011 COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

rs1064795935 in COL4A1 gene and Muscle hypotonia

PMID 21625620 2011 COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

PMID 22574627 2012 Childhood presentation of COL4A1 mutations.

PMID 19194877 2009 COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

PMID 16598045 2006 Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

PMID 17696175 2007 COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

PMID 19840616 2009 COL4A1 mutation in preterm intraventricular hemorrhage.

PMID 16374828 2006 Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

PMID 17938367 2007 Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

PMID 18160688 2007 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

PMID 12525718 2003 Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.

PMID 16107487 2006 Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

PMID 15882279 2005 Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.

PMID 15905400 2005 Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

PMID 19949034 2009 Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

PMID 23065703 2013 Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

PMID 6428250 1984 Familial porencephalic white matter disease in two generations.

PMID 23394911 2013 Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

PMID 26220970 2015 High-throughput genetic characterization of a cohort of Brugada syndrome patients.

rs797044947 in COL4A2-AS1;COL4A2 gene and Muscle hypotonia

PMID 24001601 2014 Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.

PMID 26708157 2016 A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

PMID 25719457 2015 The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

PMID 22333902 2012 COL4A2 mutation associated with familial porencephaly and small-vessel disease.

PMID 22209247 2012 COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

PMID 22209246 2012 De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

PMID 24390199 2014 COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.

rs1555872965 in COL6A2 gene and Muscle hypotonia

PMID 24038877 2013 Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

PMID 18852439 2008 Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

PMID 20976770 2010 Early onset collagen VI myopathies: Genetic and clinical correlations.

PMID 11865138 2002 Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

PMID 25204870 2015 Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

PMID 25533456 2015 Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.

PMID 23564457 2013 COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.

PMID 19949035 2009 Autosomal recessive Bethlem myopathy.

PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

PMID 22426012 2012 Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.

rs886042883 in COL6A3 gene and Muscle hypotonia

PMID 18852439 2008 Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

PMID 20976770 2010 Early onset collagen VI myopathies: Genetic and clinical correlations.

PMID 19949035 2009 Autosomal recessive Bethlem myopathy.

PMID 24271325 2013 Natural history of pulmonary function in collagen VI-related myopathies.

PMID 11381124 2001 Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.

PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

PMID 26872670 2016 The role of mutations in COL6A3 in isolated dystonia.

PMID 11932968 2002 Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.

PMID 24038877 2013 Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

PMID 11865138 2002 Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

PMID 23564457 2013 COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.

PMID 17537636 2007 Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.

PMID 26004199 2015 Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

rs1554117456 in CPLANE1 gene and Muscle hypotonia

PMID 25407461 2015 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 21679365 2011 The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

PMID 22236771 2012 Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

PMID 25846457 2015 Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

PMID 24178751 2014 C5orf42 is the major gene responsible for OFD syndrome type VI.

rs141970897 in CRAT gene and Muscle hypotonia

PMID 31448845 2020 CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

rs1555473499 in CREBBP gene and Muscle hypotonia

PMID 27165009 2016 Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 26956253 2016 Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

PMID 25388907 2015 Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

PMID 25108505 2015 Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

PMID 10699051 2000 Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

PMID 27311832 2016 CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

PMID 16783566 2006 Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

PMID 13983033 1963 Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

PMID 26788536 2016 CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

PMID 27342041 2016 Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.

PMID 15706485 2005 Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

PMID 26603346 2016 Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.

PMID 18792986 2008 Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

PMID 16021471 2005 DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

PMID 25599811 2015 Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

PMID 12070251 2002 Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.

PMID 12114483 2002 Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

rs1264025914 in CRYBA1 gene and Muscle hypotonia

PMID 24926697 2014 Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3.

PMID 15016766 2004 Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract.

PMID 21686330 2011 A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.

PMID 26851658 2016 Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells.

PMID 28149769 2017 A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family.

PMID 25461968 2015 βA3/A1-crystallin: more than a lens protein.

rs147484110 in CSTB gene and Muscle hypotonia

PMID 26843564 2016 CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

PMID 12058102 2002 Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.

PMID 23205931 2012 Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

PMID 28378817 2017 Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

PMID 18325013 2008 Clinical picture of EPM1-Unverricht-Lundborg disease.

PMID 17158032 2007 Long-term evolution of EEG in Unverricht-Lundborg disease.

PMID 22154554 2012 Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

PMID 21757863 2011 Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.

rs1555534189 in CTCF gene and Muscle hypotonia

PMID 19563753 2009 CTCF: master weaver of the genome.

PMID 22354838 2012 CTCF: insights into insulator function during development.

PMID 23746550 2013 De novo mutations in the genome organizer CTCF cause intellectual disability.

PMID 18654629 2008 The insulator binding protein CTCF positions 20 nucleosomes around its binding sites across the human genome.

PMID 28619046 2017 Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

rs1064796453 in CTNNB1 gene and Muscle hypotonia

PMID 23499309 2013 Mutations in WNT1 cause different forms of bone fragility.

PMID 8582267 1995 Lack of beta-catenin affects mouse development at gastrulation.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 8227220 1993 The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction.

PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

PMID 28575650 2017 Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

PMID 24431282 2014 Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model.

PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

PMID 24614104 2014 Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

PMID 9060476 1997 Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 15713948 2005 Wnt/beta-catenin pathway.

PMID 18334222 2008 Crystal structure of a full-length beta-catenin.

PMID 21903672 2011 Maintaining embryonic stem cell pluripotency with Wnt signaling.

PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 22682243 2012 Wnt/β-catenin signaling and disease.

PMID 22110128 2012 Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358.

PMID 15866164 2005 Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.

PMID 1999432 1991 Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure.

PMID 15866163 2005 Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

rs1553521389 in CUL3 gene and Muscle hypotonia

PMID 25969726 2015 Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

PMID 3002982 1986 Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 15843622 2005 Requirement of Cul3 for axonal arborization and dendritic elaboration in Drosophila mushroom body neurons.

PMID 18687424 2009 Gene expression alterations in cryptorchid males using spermatozoal microarray analysis.

PMID 20065088 2010 Drosophila Kelch functions with Cullin-3 to organize the ring canal actin cytoskeleton.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 17559828 2007 Suppression of Hedgehog signaling by Cul3 ligases in proliferation control of retinal precursors.

PMID 22266938 2012 Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

PMID 24959344 2014 Kelch proteins: emerging roles in skeletal muscle development and diseases.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 20880695 2010 Structural assembly of cullin-RING ubiquitin ligase complexes.

PMID 16162871 2006 Cullin3 is a KLHL10-interacting protein preferentially expressed during late spermiogenesis.

PMID 16595883 2006 The ubiquitin-proteasome system.

PMID 21554755 2011 The cullin protein family.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 22914163 2012 Rate of de novo mutations and the importance of father's age to disease risk.

PMID 23676014 2013 Update on the Kelch-like (KLHL) gene family.

PMID 18927510 2008 The cullin7 E3 ubiquitin ligase: a novel player in growth control.

PMID 24266877 2014 Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

PMID 15071497 2004 Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family.

PMID 15136734 2004 Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice.

PMID 10500095 1999 Cullin-3 targets cyclin E for ubiquitination and controls S phase in mammalian cells.

PMID 15511641 2004 Cullin-3 regulates pattern formation, external sensory organ development and cell survival during Drosophila development.

rs1556200443 in CUL4B gene and Muscle hypotonia

PMID 17236139 2007 Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

PMID 17273978 2007 Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.

PMID 24898194 2014 Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

PMID 20002452 2010 A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.

PMID 10978355 2000 A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

PMID 28817236 2017 A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

PMID 21816345 2011 X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.

PMID 25385192 2015 Variants in CUL4B are associated with cerebral malformations.

PMID 19818632 2009 CRL4s: the CUL4-RING E3 ubiquitin ligases.

PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

rs1057519430 in DDX3X gene and Muscle hypotonia

PMID 25724843 2015 Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

PMID 9381176 1997 Functional coherence of the human Y chromosome.

PMID 26235985 2015 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

PMID 28371085 2017 DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

PMID 23413191 2013 RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling.

PMID 22722829 2012 Novel mutations target distinct subgroups of medulloblastoma.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 2563148 1989 Birth of the D-E-A-D box.

PMID 18463129 2008 Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25050112 2014 DDX3X regulates cell survival and cell cycle during mouse early embryonic development.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 17979704 2007 The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays.

PMID 16518819 2006 Divergent roles of the DEAD-box protein BS-PL10, the urochordate homologue of human DDX3 and DDX3Y proteins, in colony astogeny and ontogeny.

PMID 15772666 2005 X-inactivation profile reveals extensive variability in X-linked gene expression in females.

PMID 15572142 2005 Belle is a Drosophila DEAD-box protein required for viability and in the germ line.

rs1555950665 in DDX3X;LOC105373184;LOC107985678 gene and Muscle hypotonia

PMID 22722829 2012 Novel mutations target distinct subgroups of medulloblastoma.

PMID 15772666 2005 X-inactivation profile reveals extensive variability in X-linked gene expression in females.

PMID 17979704 2007 The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays.

PMID 18463129 2008 Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

PMID 25724843 2015 Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

PMID 23413191 2013 RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling.

PMID 15572142 2005 Belle is a Drosophila DEAD-box protein required for viability and in the germ line.

PMID 25050112 2014 DDX3X regulates cell survival and cell cycle during mouse early embryonic development.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 26235985 2015 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 9381176 1997 Functional coherence of the human Y chromosome.

PMID 28371085 2017 DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

PMID 2563148 1989 Birth of the D-E-A-D box.

PMID 16518819 2006 Divergent roles of the DEAD-box protein BS-PL10, the urochordate homologue of human DDX3 and DDX3Y proteins, in colony astogeny and ontogeny.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

rs1554944527 in DEAF1 gene and Muscle hypotonia

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 26834045 2016 Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.

PMID 22442688 2012 Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 24726472 2014 Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

PMID 26048982 2015 Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

PMID 23372760 2013 Structural and functional analysis of the DEAF-1 and BS69 MYND domains.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 24668509 2014 Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

rs1057517825 in DERL3;SMARCB1 gene and Muscle hypotonia

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 25168959 2014 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

rs1213060424 in DLG3 gene and Muscle hypotonia

PMID 28777483 2017 Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

PMID 25649377 2015 Next-generation sequencing in X-linked intellectual disability.

PMID 15185169 2004 Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

PMID 22659343 2012 Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

PMID 24721225 2014 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

PMID 19795139 2010 A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.

rs116128702 in DNAH5 gene and Muscle hypotonia

PMID 12615011 2003 Lateralization defects and ciliary dyskinesia: lessons from algae.

PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

rs1554774587 in DNM1 gene and Muscle hypotonia

PMID 20428113 2010 G domain dimerization controls dynamin's assembly-stimulated GTPase activity.

PMID 20700442 2010 A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.

PMID 21441247 2011 SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

PMID 21102612 2010 Mitochondrial fusion and fission in cell life and death.

PMID 19502294 2009 Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

PMID 9294229 1997 A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans.

PMID 19665976 2009 A class of dynamin-like GTPases involved in the generation of the tubular ER network.

PMID 21926968 2011 Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

PMID 7962076 1994 Induction of mutant dynamin specifically blocks endocytic coated vesicle formation.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 10074457 1999 Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain.

PMID 8360266 1993 A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis.

PMID 22099461 2011 Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission.

PMID 19633650 2009 Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin.

PMID 12509422 2003 Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.

PMID 1828536 1991 Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis.

PMID 17463283 2007 A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis.

PMID 23781021 2013 Building a fission machine--structural insights into dynamin assembly and activation.

PMID 6304244 1983 Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila.

PMID 18250322 2008 Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons.

PMID 23092955 2013 Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

PMID 8290576 1994 Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues.

PMID 15509649 2004 OPA1 requires mitofusin 1 to promote mitochondrial fusion.

PMID 17460227 2007 A lethal defect of mitochondrial and peroxisomal fission.

PMID 15731758 2005 Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

PMID 7877694 1995 Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding.

PMID 11553700 2001 Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages.

PMID 22233676 2012 Dynamin, a membrane-remodelling GTPase.

PMID 1674590 1991 Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic.

PMID 1832879 1991 Predominant and developmentally regulated expression of dynamin in neurons.

PMID 7877693 1995 Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals.

PMID 14985377 2004 Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

PMID 21927001 2011 The crystal structure of dynamin.

PMID 11879655 2002 Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 26611353 2016 De novo DNM1 mutations in two cases of epileptic encephalopathy.

PMID 28667181 2017 DNM1 encephalopathy: A new disease of vesicle fission.

rs1554767317 in DNM1;CIZ1 gene and Muscle hypotonia

PMID 17463283 2007 A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis.

PMID 22233676 2012 Dynamin, a membrane-remodelling GTPase.

PMID 23092955 2013 Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

PMID 21927001 2011 The crystal structure of dynamin.

PMID 14985377 2004 Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

PMID 1828536 1991 Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis.

PMID 12509422 2003 Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.

PMID 11879655 2002 Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice.

PMID 7877694 1995 Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding.

PMID 15731758 2005 Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

PMID 7877693 1995 Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals.

PMID 11553700 2001 Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages.

PMID 21926968 2011 Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I.

PMID 18250322 2008 Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons.

PMID 19633650 2009 Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin.

PMID 21441247 2011 SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

PMID 19502294 2009 Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

PMID 22099461 2011 Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission.

PMID 26611353 2016 De novo DNM1 mutations in two cases of epileptic encephalopathy.

PMID 1832879 1991 Predominant and developmentally regulated expression of dynamin in neurons.

PMID 23781021 2013 Building a fission machine--structural insights into dynamin assembly and activation.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 28667181 2017 DNM1 encephalopathy: A new disease of vesicle fission.

PMID 21102612 2010 Mitochondrial fusion and fission in cell life and death.

PMID 19665976 2009 A class of dynamin-like GTPases involved in the generation of the tubular ER network.

PMID 9294229 1997 A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans.

PMID 20428113 2010 G domain dimerization controls dynamin's assembly-stimulated GTPase activity.

PMID 20700442 2010 A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.

PMID 8360266 1993 A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis.

PMID 6304244 1983 Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila.

PMID 17460227 2007 A lethal defect of mitochondrial and peroxisomal fission.

PMID 1674590 1991 Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic.

PMID 7962076 1994 Induction of mutant dynamin specifically blocks endocytic coated vesicle formation.

PMID 10074457 1999 Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain.

PMID 15509649 2004 OPA1 requires mitofusin 1 to promote mitochondrial fusion.

PMID 8290576 1994 Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues.

rs147001633 in DNMT3A gene and Muscle hypotonia

PMID 10325416 1999 The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.

PMID 12359337 2002 The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents.

PMID 12138111 2002 A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.

PMID 12575993 2003 The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains.

PMID 10433969 1999 Cloning, expression and chromosome locations of the human DNMT3 gene family.

PMID 10555141 1999 DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

PMID 10647011 1999 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

PMID 16357870 2006 The Polycomb group protein EZH2 directly controls DNA methylation.

PMID 11399089 2001 Enzymatic properties of recombinant Dnmt3a DNA methyltransferase from mouse: the enzyme modifies DNA in a non-processive manner and also methylates non-CpG [correction of non-CpA] sites.

PMID 1423634 1992 A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 28667884 2017 Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.

PMID 26866722 2016 Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 15063176 2004 Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells.

PMID 28386848 2018 Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.

PMID 27701732 2017 Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

PMID 2717398 1989 Predictive motifs derived from cytosine methyltransferases.

PMID 21507354 2011 The DNMT3 family of mammalian de novo DNA methyltransferases.

PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PMID 21844811 2011 An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

PMID 27991732 2017 Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

PMID 28941052 2017 The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

PMID 20729844 2010 Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.

PMID 20228804 2010 Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.

PMID 20651149 2010 Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes.

PMID 15739230 2005 DNA methyltransferase expression in the mouse germ line during periods of de novo methylation.

PMID 15672446 2005 Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system.

PMID 17445268 2007 Coordinate regulation of DNA methyltransferase expression during oogenesis.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 21067377 2010 DNMT3A mutations in acute myeloid leukemia.

PMID 16725135 2006 Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse.

PMID 16501171 2006 Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.

PMID 17878930 2007 DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

rs1553749681 in DOCK3 gene and Muscle hypotonia

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 17055478 2006 Neurotrophin receptor homolog (NRH1) proteins regulate mesoderm formation and apoptosis during early Xenopus development.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 14682358 2003 Signalling mechanisms mediating neuronal responses to guidance cues.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 25016980 2014 Dock GEFs and their therapeutic potential: neuroprotection and axon regeneration.

PMID 17046689 2006 Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation.

PMID 15494731 2004 A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.

PMID 15829629 2005 TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses.

PMID 24870542 2014 A draft map of the human proteome.

PMID 15234347 2004 Regulation of dendritic spine motility and stability by Rac1 and Rho kinase: evidence for two forms of spine motility.

PMID 25599672 2015 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

PMID 20368433 2010 Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex.

PMID 19129390 2009 Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration.

PMID 17911219 2008 BDNF and memory formation and storage.

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 28195318 2017 Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

PMID 14569117 2003 Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.

PMID 29130632 2018 DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

PMID 10884317 2000 Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons.

PMID 12432077 2002 Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.

PMID 12566533 2003 A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.

PMID 10854253 2000 Isolation and characterization of novel presenilin binding protein.

rs606231128 in DOK7 gene and Muscle hypotonia

PMID 19261599 2009 Germline mutation in DOK7 associated with fetal akinesia deformation sequence.

PMID 21984750 2011 Fetal akinesia: review of the genetics of the neuromuscular causes.

PMID 16917026 2006 Dok-7 mutations underlie a neuromuscular junction synaptopathy.

PMID 20554332 2010 Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

PMID 18626973 2008 Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

PMID 20458068 2010 Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

PMID 23831158 2013 DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.

PMID 24425145 2014 Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.

PMID 24500997 2014 How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia.

PMID 22678886 2012 Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.

PMID 22661499 2012 The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

rs1555408829 in DYNC1H1 gene and Muscle hypotonia

PMID 22368300 2012 Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

PMID 22847149 2012 A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 28325891 2017 Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.

PMID 28263302 2017 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

PMID 21820100 2011 Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

PMID 22459677 2012 Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.

PMID 24307404 2014 Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

PMID 16519653 2006 Human disorders of cortical development: from past to present.

PMID 28193117 2017 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.

PMID 9781046 1998 Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.

PMID 19074350 2008 Structure and functional role of dynein's microtubule-binding domain.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 25609763 2015 Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 15826937 2005 The affinity of the dynein microtubule-binding domain is modulated by the conformation of its coiled-coil stalk.

PMID 29243232 2018 A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

rs1555985642 in DYRK1A gene and Muscle hypotonia

PMID 22918246 2012 Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control.

PMID 23512985 2013 Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome.

PMID 26922654 2016 Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

PMID 23099646 2012 The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

PMID 12192061 2002 Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.

PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

PMID 12814361 2003 Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation.

PMID 2143053 1990 Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

PMID 21204217 2011 Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

PMID 18364031 2008 The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development.

PMID 25707398 2016 Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

PMID 19383720 2009 Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A.

PMID 19685005 2009 Function and regulation of Dyrk1A: towards understanding Down syndrome.

PMID 18405873 2008 Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

PMID 17237124 2007 Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

PMID 21294719 2011 Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

rs1555984304 in DYRK1A;LOC105372797 gene and Muscle hypotonia

PMID 23512985 2013 Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome.

PMID 23099646 2012 The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

PMID 21294719 2011 Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 22918246 2012 Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control.

PMID 26922654 2016 Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

PMID 12192061 2002 Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.

PMID 17237124 2007 Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

PMID 18405873 2008 Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

PMID 2143053 1990 Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

PMID 25707398 2016 Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

PMID 19383720 2009 Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A.

PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

PMID 18364031 2008 The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development.

PMID 21204217 2011 Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

PMID 12814361 2003 Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation.

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

PMID 19685005 2009 Function and regulation of Dyrk1A: towards understanding Down syndrome.

rs201842633 in EARS2 gene and Muscle hypotonia

PMID 26619324 2016 Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.

PMID 23008233 2013 Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.

PMID 26780086 2016 EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 22492562 2012 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

PMID 25854774 2015 Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

rs1057519389 in EBF3 gene and Muscle hypotonia

PMID 20300201 2010 Mutations in ARX Result in Several Defects Involving GABAergic Neurons.

PMID 19627984 2009 Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity.

PMID 29062322 2017 Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

PMID 28487885 2017 Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

PMID 29162653 2017 De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

PMID 28017370 2017 De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

PMID 28017373 2017 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

rs777218310 in ECHS1 gene and Muscle hypotonia

PMID 27221955 2016 Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

PMID 27090768 2016 Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

PMID 28755360 2018 Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.

PMID 28409271 2017 Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

PMID 27905109 2017 A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

PMID 28202214 2017 Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

PMID 25393721 2015 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

PMID 26099313 2015 Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 26920905 2016 ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

PMID 28039521 2017 ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.

PMID 26081110 2015 Clinical and biochemical characterization of four patients with mutations in ECHS1.

PMID 25125611 2014 ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

PMID 26000322 2015 Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

rs1555883505 in EEF1A2 gene and Muscle hypotonia

PMID 19636410 2009 Structural models of human eEF1A1 and eEF1A2 reveal two distinct surface clusters of sequence variation and potential differences in phosphorylation.

PMID 28378778 2017 Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 26682508 2016 Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations.

PMID 23647072 2013 Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

PMID 19909265 2009 eEF1A2 and neuronal degeneration.

PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.

PMID 28911200 2017 Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.

PMID 24697219 2015 De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.

PMID 27441201 2016 Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.

rs1554879633 in EHMT1 gene and Muscle hypotonia

PMID 24779060 2014 If not Angelman, what is it? A review of Angelman-like syndromes.

PMID 29160022 2018 First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.

PMID 26808425 2016 A structured assessment of motor function and behavior in patients with Kleefstra syndrome.

PMID 15805155 2005 Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

PMID 22670141 2012 Update on Kleefstra Syndrome.

PMID 16826528 2006 Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

PMID 19264732 2009 Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.

rs1554680190 in ELN gene and Muscle hypotonia

PMID 27866049 2017 Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

PMID 15955094 2005 Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

PMID 8132745 1994 Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

PMID 10942104 2000 Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

PMID 19194475 2009 An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.

PMID 23442826 2013 Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

PMID 21309044 2011 New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

PMID 11175284 2000 Elastin: mutational spectrum in supravalvular aortic stenosis.

PMID 18348261 2008 Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

rs1553252938 in EMC1;EMC1-AS1 gene and Muscle hypotonia

PMID 23105016 2013 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

rs1555905780 in EP300 gene and Muscle hypotonia

PMID 24476420 2015 Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

PMID 25712426 2015 Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

PMID 17299436 2007 Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

PMID 18792986 2008 Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

PMID 19353645 2009 Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.

PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

PMID 27964710 2016 First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

PMID 20014264 2010 Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

PMID 27465822 2016 Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

PMID 16428436 2006 Conditional knockout mice reveal distinct functions for the global transcriptional coactivators CBP and p300 in T-cell development.

PMID 27648933 2016 Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

PMID 15706485 2005 Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

PMID 13983033 1963 Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

PMID 20717166 2011 Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

PMID 26486927 2016 From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.

PMID 11331617 2001 Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.

PMID 26279656 2015 Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.

PMID 24352918 2014 Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.

PMID 12114483 2002 Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

rs1242562412 in ERBB2;PGAP3 gene and Muscle hypotonia

PMID 22265715 2012 GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics.

PMID 17314402 2007 Fatty acid remodeling of GPI-anchored proteins is required for their raft association.

PMID 28390064 2018 PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

PMID 26077850 2015 High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

PMID 24439110 2014 Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

rs141138948 in EXOSC3 gene and Muscle hypotonia

PMID 11110791 2001 Three novel components of the human exosome.

PMID 8147499 1994 Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset.

PMID 23284067 2013 Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

PMID 22544365 2012 Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

PMID 24524299 2014 EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

PMID 23883322 2013 Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

PMID 23564332 2013 We identified a homozygous mutation [c.395A > C/p.D132A] in EXOSC3 in four patients with muscle hypotonia, developmental delay, spinal anterior horn involvement, and prolonged survival, consistent with the "mild PCH1 phenotype".

rs1554852244 in FAS gene and Muscle hypotonia

PMID 21490157 2011 FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

PMID 21885602 2011 A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.

PMID 20360470 2010 Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.

PMID 25086580 2014 Autoimmune lymphoproliferative syndrome: an update and review of the literature.

PMID 9028321 1997 Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.

PMID 7539157 1995 Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.

PMID 27060458 2016 Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS).

PMID 24398331 2014 Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.

PMID 10709732 2000 Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?

rs869025411 in FBN1 gene and Muscle hypotonia

PMID 25736269 2015 FBN1 contributing to familial congenital diaphragmatic hernia.

PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.

PMID 25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

PMID 8941093 1996 Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.

PMID 17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

PMID 8563763 1996 Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

PMID 12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.

PMID 21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

PMID 23133647 2012 Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

PMID 26026792 2015 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

PMID 25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

PMID 23897642 2013 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

PMID 3536967 1986 Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

PMID 20979188 2010 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

PMID 23278365 2013 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

PMID 21594992 2011 Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.

PMID 24039054 2013 Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

PMID 20591885 2010 The revised Ghent nosology for the Marfan syndrome.

PMID 24665001 2014 De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

PMID 24635535 2015 The revised ghent nosology; reclassifying isolated ectopia lentis.

PMID 20375004 2010 Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

PMID 16333834 2006 Molecular pathology of Shprintzen-Goldberg syndrome.

PMID 15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

PMID 16273536 2005 Genetic basis of thoracic aortic aneurysms and aortic dissections.

PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 14598350 2003 Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

rs1182326570 in FBXL4 gene and Muscle hypotonia

PMID 27743463 2017 FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

PMID 28940506 2017 Molecular and clinical spectra of FBXL4 deficiency.

PMID 23993194 2013 Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

PMID 25868664 2015 Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

PMID 23993193 2013 Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

PMID 10531035 1999 Identification of a family of human F-box proteins.

PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs754320812 in FBXL6;SLC52A2 gene and Muscle hypotonia

PMID 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

PMID 27702554 2016 SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.

PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

rs377357931 in FIG4 gene and Muscle hypotonia

PMID 17572665 2007 Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

PMID 24598713 2014 Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

PMID 25617005 2015 Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

PMID 21705420 2011 Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

PMID 8411078 1993 Congenital heart malformation in Yunis-Varón syndrome.

PMID 23623387 2013 Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

PMID 19118816 2009 Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

rs372754256 in FLG;FLG-AS1 gene and Muscle hypotonia

PMID 21173567 2011 Filaggrin gene defects and the risk of developing allergic disorders.

PMID 17417636 2007 Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 20790920 1966 Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.

PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

rs1554109707 in FLT4 gene and Muscle hypotonia

PMID 15689446 2005 Milroy disease and the VEGFR-3 mutation phenotype.

PMID 9817924 1998 Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

PMID 19002718 2009 Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.

PMID 24167460 2013 Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.

PMID 23074044 2013 FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

PMID 12960217 2003 Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

rs899735028 in FLVCR1-DT;FLVCR1 gene and Muscle hypotonia

PMID 27923065 2016 Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

PMID 24628582 2015 Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 9409377 1997 An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa.

PMID 21070897 2010 Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.

PMID 21267618 2011 Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.

rs1468358104 in FLVCR1;FLVCR1-DT gene and Muscle hypotonia

PMID 9409377 1997 An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa.

PMID 21267618 2011 Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.

PMID 21070897 2010 Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 27923065 2016 Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

PMID 24628582 2015 Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

rs1555321345 in FOXG1 gene and Muscle hypotonia

PMID 21441262 2011 The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

PMID 20356955 2010 FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation.

PMID 24766421 2014 Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

PMID 19578037 2010 Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

PMID 22998673 2012 Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

PMID 18571142 2008 FOXG1 is responsible for the congenital variant of Rett syndrome.

PMID 25565401 2015 Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.

PMID 27001178 2016 Visual impairment in FOXG1-mutated individuals and mice.

PMID 28544139 2017 RettBASE: Rett syndrome database update.

PMID 24836831 2014 Epilepsy and outcome in FOXG1-related disorders.

PMID 27029630 2016 Delineation of the movement disorders associated with FOXG1 mutations.

PMID 2760358 1989 Prospective observations on stopping prolonged venom immunotherapy.

PMID 26344814 2016 The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.

PMID 26364767 2015 Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

PMID 27640358 2016 Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

rs1554412300 in FOXP2 gene and Muscle hypotonia

PMID 17033973 2006 Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

PMID 22105961 2012 Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families.

PMID 27572252 2017 FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

PMID 28741757 2017 Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.

PMID 15877281 2005 Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.

PMID 11894222 2002 FOXP2 is not a major susceptibility gene for autism or specific language impairment.

PMID 28190287 2017 A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.

PMID 2332125 1990 An extended family with a dominantly inherited speech disorder.

PMID 27933109 2016 Functional characterization of rare FOXP2 variants in neurodevelopmental disorder.

rs587777308 in GABRA1 gene and Muscle hypotonia

PMID 21714819 2011 Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

PMID 11992121 2002 Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

PMID 16718694 2006 A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

PMID 27521439 2016 Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

PMID 9126483 1997 Structure and organization of GABRB3 and GABRA5.

PMID 24811917 2014 Copy number variation plays an important role in clinical epilepsy.

PMID 20551311 2010 GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors.

PMID 26918889 2016 De novo GABRA1 mutations in Ohtahara and West syndromes.

PMID 22190369 2011 Rare copy number variants are an important cause of epileptic encephalopathies.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs1554094278 in GABRB2 gene and Muscle hypotonia

PMID 27789573 2017 A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

PMID 25194483 2014 Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy.

PMID 25124326 2014 A novel variant in GABRB2 associated with intellectual disability and epilepsy.

PMID 23038269 2012 Structure, function, and modulation of GABA(A) receptors.

PMID 26350515 2016 Novel genetic causes for cerebral visual impairment.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 26050032 2015 The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

rs1555401440 in GABRB3 gene and Muscle hypotonia

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 26645412 2016 GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

PMID 24999380 2014 Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.

PMID 28607477 2017 GABA_A receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders.

PMID 18514161 2008 Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 27622563 2016 Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 26950270 2016 Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 28053010 2017 Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

rs1554100923 in GABRG2 gene and Muscle hypotonia

PMID 20551311 2010 GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors.

PMID 11326275 2001 Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

PMID 25726841 2015 Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

PMID 16924025 2006 A novel GABRG2 mutation associated with febrile seizures.

PMID 27340224 2016 Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.

PMID 11748509 2002 Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

PMID 20485450 2010 Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

PMID 24480790 2014 Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.

PMID 11326274 2001 First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

PMID 12477709 2003 Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

PMID 24407264 2014 A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

PMID 27367160 2016 Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.

PMID 28460589 2018 Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.

PMID 27066572 2015 Novel GABRG2 mutations cause familial febrile seizures.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 27864268 2017 De novo GABRG2 mutations associated with epileptic encephalopathies.

rs1555523411 in GALNS gene and Muscle hypotonia

PMID 27774754 2017 Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.

PMID 9189888 1997 MRI of the brain and craniocervical junction in Morquio's disease.

PMID 17347914 2007 International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.

PMID 22543891 2012 Functional capacity evaluation of patients with mucopolysaccharidosis.

PMID 28428354 2017 Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.

PMID 21506915 2011 Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.

PMID 23371450 2013 Diagnosing mucopolysaccharidosis IVA.

PMID 16539564 2006 Multidisciplinary treatment approach of Morquio syndrome (Mucopolysaccharidosis Type IVA).

PMID 7741581 1995 The mucopolysaccharidoses: a clinical review and guide to management.

PMID 25897204 2015 Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.

PMID 23385297 2013 Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

PMID 12728175 2003 Upper airways abnormalities and tracheal problems in Morquio's disease.

PMID 16287098 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

PMID 22358740 2013 Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

rs1557198821 in GDI1 gene and Muscle hypotonia

PMID 9106537 1997 A gene for dominant nonspecific X-linked mental retardation is located in Xq28.

PMID 9620768 1998 Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

PMID 17304053 2007 MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

PMID 22002931 2011 Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.

PMID 7615494 1995 Rab GDP dissociation inhibitor: putting rab GTPases in the right place.

PMID 7543319 1995 Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport.

PMID 9668174 1998 Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

PMID 20004760 2009 Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

rs1554200990 in GJA1 gene and Muscle hypotonia

PMID 14974090 2004 A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

PMID 19615768 2010 Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects.

PMID 16531323 2007 Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

PMID 16816024 2006 A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

PMID 19338053 2009 GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

PMID 23675785 2014 Overview of skin diseases linked to connexin gene mutations.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 25976645 2015 A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

PMID 24133447 2013 Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

PMID 12457340 2003 Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

PMID 27241686 2016 A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.

PMID 27226478 2016 Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

rs1553242554 in GJA8 gene and Muscle hypotonia

PMID 20806042 2010 A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.

PMID 27785597 2017 Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.

PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs1555937168 in GJB1 gene and Muscle hypotonia

PMID 23773993 2013 Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

PMID 28097225 2017 Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic.

PMID 22771394 2012 How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

PMID 26385972 2016 A Review of X-linked Charcot-Marie-Tooth Disease.

PMID 27844031 2016 Clinical and biophysical characterization of 19 GJB1 mutations.

PMID 21692908 2011 Phenotype expression in women with CMT1X.

PMID 17353473 2007 CMT1X phenotypes represent loss of GJB1 gene function.

PMID 15852376 2005 Severe neuropathy with leaky connexin32 hemichannels.

PMID 12477701 2003 Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

PMID 21282593 2011 A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood.

rs1553471273 in GLI2 gene and Muscle hypotonia

PMID 20685856 2010 Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

PMID 15994174 2005 A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.

PMID 21204792 2012 Clinical findings in patients with GLI2 mutations--phenotypic variability.

PMID 14581620 2003 Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

PMID 22967285 2013 Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.

rs797044951 in GNAO1 gene and Muscle hypotonia

PMID 26485252 2015 Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

PMID 21220323 2011 Augmented glucose-induced insulin release in mice lacking G(o2), but not G(o1) or G(i) proteins.

PMID 23993195 2013 De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

PMID 28503590 2019 Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 28357411 2017 GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

PMID 25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

PMID 26060304 2016 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

PMID 9050846 1997 G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart.

PMID 27068059 2016 Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.

PMID 28747448 2017 Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.

rs1553194162 in GNB1 gene and Muscle hypotonia

PMID 25485910 2015 Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.

PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

PMID 27668284 2016 Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.

PMID 28087732 2017 Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

PMID 10819326 2000 Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes.

rs1429181351 in GNPTAB gene and Muscle hypotonia

PMID 26749367 2016 Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

PMID 23192343 2013 Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif.

PMID 19634183 2009 Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

PMID 19197337 2009 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

PMID 19617216 2010 Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

PMID 20147709 2010 Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

PMID 20367762 2010 The natural history and osteodystrophy of mucolipidosis types II and III.

PMID 16630736 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

PMID 16200072 2005 Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.

rs1554770046 in GRIN1 gene and Muscle hypotonia

PMID 16635252 2006 Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning.

PMID 1834949 1991 Molecular cloning and characterization of the rat NMDA receptor.

PMID 16402093 2006 The glutamate story.

PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 17910072 2007 The chromosome 9q subtelomere deletion syndrome.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 28051072 2017 Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

PMID 16600850 2006 NMDA receptors, glial cells, and clinical medicine.

PMID 23933818 2013 GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

PMID 25864721 2015 GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

PMID 25838242 2015 The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 23937349 2013 Integrative mechanisms of oriented neuronal migration in the developing brain.

PMID 2516786 1989 Luteinizing hormone and follicle stimulating hormone secretion patterns in boys throughout puberty measured using highly sensitive immunoradiometric assays.

PMID 28389307 2017 De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

PMID 17315208 2007 Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 22974439 2013 Functional insights from glutamate receptor ion channel structures.

PMID 6306230 1983 Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus.

PMID 22606296 2012 Overstimulation of NMDA receptors impairs early brain development in vivo.

PMID 22796429 2013 The NMDA receptor as a target for cognitive enhancement.

PMID 27164704 2016 Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

PMID 7679115 1993 Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor.

PMID 9526012 1998 Evidence for a tetrameric structure of recombinant NMDA receptors.

rs1555103971 in GRIN2B gene and Muscle hypotonia

PMID 27605359 2016 Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 28377535 2017 GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

PMID 23933820 2013 GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

PMID 24272827 2014 GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.

PMID 23718928 2013 Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.

PMID 24126926 2014 Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23933819 2013 Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

PMID 24999380 2014 Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.

PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 22833210 2011 Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 21572417 2011 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

PMID 22796429 2013 The NMDA receptor as a target for cognitive enhancement.

PMID 17357078 2007 Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.

rs1131690805 in H1-4;H2BC5 gene and Muscle hypotonia

PMID 25081361 2015 Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 23945933 2013 H1 histones: current perspectives and challenges.

rs1276519904 in H3-3A gene and Muscle hypotonia

PMID 16472024 2009 Recognition and classification of histones using support vector machine.

PMID 10556297 1999 A retroviral gene trap insertion into the histone 3.3A gene causes partial neonatal lethality, stunted growth, neuromuscular deficits and male sub-fertility in transgenic mice.

PMID 23415232 2013 Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer.

PMID 21782046 2011 The human histone H3 complement anno 2011.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 26139371 2015 Critical Role of Histone Turnover in Neuronal Transcription and Plasticity.

PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 9441765 1997 Localization of the human H3F3A histone gene to 1q41, outside of the normal histone gene clusters.

rs387906639 in HARS1;DND1 gene and Muscle hypotonia

PMID 26072516 2015 Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

PMID 22930593 2013 A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

rs334 in HBB gene and Muscle hypotonia

PMID 10602954 1999 Imaging features of thalassemia.

PMID 19958185 2009 Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population.

PMID 11545326 2001 Inherited haemoglobin disorders: an increasing global health problem.

PMID 21131035 2010 Sickle-cell disease.

PMID 49057 1975 Human globin gene analysis for a patient with beta-o/delta beta-thalassemia.

PMID 20492708 2010 Beta-thalassemia.

PMID 23729725 2013 Non-transfusion-dependent thalassemias.

rs397515417 in HDAC8 gene and Muscle hypotonia

PMID 22885700 2012 HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

PMID 24718998 2014 Autism traits in children and adolescents with Cornelia de Lange syndrome.

PMID 25209348 2015 Cornelia de Lange syndrome.

PMID 24038889 2013 Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

PMID 26671848 2016 Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

PMID 17640042 2007 Natural history of aging in Cornelia de Lange syndrome.

PMID 19886810 2009 Cohesin: its roles and mechanisms.

PMID 15146186 2004 Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

PMID 22889856 2012 X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

PMID 24403048 2014 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

PMID 15146185 2004 NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

rs1553629086 in HECW2 gene and Muscle hypotonia

PMID 24163370 2013 The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 25961944 2015 Excess of rare, inherited truncating mutations in autism.

PMID 25555806 2015 NEDL2 is an essential regulator of enteric neural development and GDNF/Ret signaling.

PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

PMID 27334371 2016 Mutations in HECW2 are associated with intellectual disability and epilepsy.

PMID 16179223 2005 The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

rs1057519463 in HEXA gene and Muscle hypotonia

PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 16088929 2005 Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

PMID 16199656 2005 ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease.

PMID 8230592 1993 Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.

PMID 17412732 2007 The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

PMID 22025593 2011 Natural history of infantile G(M2) gangliosidosis.

PMID 19330222 2009 Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.

PMID 12108829 2002 Tay-Sachs disease screening and counseling families at risk for metabolic disease.

PMID 15714079 2005 Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

PMID 19858779 2010 Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.

PMID 3754980 1986 Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.

PMID 9073025 1997 Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.

PMID 1532289 1992 Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.

PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

PMID 9150157 1997 Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

rs121918329 in HIBCH gene and Muscle hypotonia

PMID 26026795 2015 Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.

PMID 17160907 2007 Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

PMID 25251209 2014 HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

PMID 24299452 2013 HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

PMID 26163321 2015 Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.

PMID 21104317 2012 Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway.

PMID 25591832 2015 Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.

rs1554698878 in HNRNPK gene and Muscle hypotonia

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 28374925 2018 Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

PMID 24288371 2014 Pfam: the protein families database.

PMID 24990929 2014 Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons.

PMID 8833161 1996 Assignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12A.

PMID 24501764 2014 Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.

PMID 26173930 2015 GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

PMID 10817758 2000 Nucleolin and YB-1 are required for JNK-mediated interleukin-2 mRNA stabilization during T-cell activation.

PMID 26954065 2016 A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

PMID 9234727 1997 The product of the murine homolog of the Drosophila extra sex combs gene displays transcriptional repressor activity.

PMID 9218800 1997 The K nuclear shuttling domain: a novel signal for nuclear import and nuclear export in the hnRNP K protein.

PMID 23455423 2013 Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

PMID 22102872 2011 Heterogeneous nuclear ribonucleoprotein k interacts with Abi-1 at postsynaptic sites and modulates dendritic spine morphology.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 15364910 2004 Phylogenetically conserved binding of specific K homology domain proteins to the 3'-untranslated region of the vertebrate middle neurofilament mRNA.

PMID 10523673 1999 The levels of the bancal product, a Drosophila homologue of vertebrate hnRNP K protein, affect cell proliferation and apoptosis in imaginal disc cells.

PMID 12853611 2003 Transient recruitment of the hnRNP K protein to inducibly transcribed gene loci.

PMID 20116073 2010 Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 18054780 2008 Dynamic endogenous association of neurofilament mRNAs with K-homology domain ribonucleoproteins in developing cerebral cortex.

PMID 16488668 2006 Cell-type-specific and developmental regulation of heterogeneous nuclear ribonucleoprotein K mRNA in the rat nervous system.

PMID 11891683 2002 Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 10995551 2000 Localization and phosphorylation of Abl-interactor proteins, Abi-1 and Abi-2, in the developing nervous system.

PMID 11574481 2001 The major mRNA-associated protein YB-1 is a potent 5' cap-dependent mRNA stabilizer.

PMID 19170760 2009 hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.

PMID 15170860 2004 hnRNP K: one protein multiple processes.

PMID 12183465 2002 An RNA helicase, DDX1, interacting with poly(A) RNA and heterogeneous nuclear ribonucleoprotein K.

PMID 11867641 2002 Heterogeneous nuclear ribonucleoprotein (hnRNP) K is a component of an intronic splicing enhancer complex that activates the splicing of the alternative exon 6A from chicken beta-tropomyosin pre-mRNA.

rs1553153365 in HNRNPR gene and Muscle hypotonia

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 20167579 2010 The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal beta-actin mRNA translocation in spinal motor neurons.

PMID 16757948 2006 Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.

PMID 23756437 2014 Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

PMID 9421497 1998 Molecular definition of heterogeneous nuclear ribonucleoprotein R (hnRNP R) using autoimmune antibody: immunological relationship with hnRNP P.

PMID 22498899 2012 Axonal mRNA localization and local protein synthesis in nervous system assembly, maintenance and repair.

PMID 23734093 2013 RNA-binding proteins and translational regulation in axons and growth cones.

PMID 20795951 2010 Functional diversity of the hnRNPs: past, present and perspectives.

PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

PMID 15822126 2005 Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

PMID 15858414 2005 Cloning and expression of a novel isoform of heterogeneous nuclear ribonucleoprotein-R.

PMID 20584894 2010 Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: Focus on hnRNP E1's multifunctional regulatory roles.

PMID 14623865 2003 Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons.

PMID 11773003 2002 Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

PMID 25338097 2014 Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons.

PMID 19015982 2009 The expression pattern of heterogeneous nuclear ribonucleoprotein R in rat retina.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 17603806 2007 A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.

rs1556026984 in HPRT1 gene and Muscle hypotonia

PMID 25503620 2015 Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.

PMID 25612837 2015 New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

PMID 23975452 2014 Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

rs1555377234 in IRF2BPL gene and Muscle hypotonia

PMID 17627301 2007 Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.

PMID 11095982 2000 Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 21444724 2011 A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2.

rs1553666546 in ITPR1 gene and Muscle hypotonia

PMID 11445634 2001 A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

PMID 23495097 2013 Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15.

PMID 17030759 2006 The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.

PMID 21367767 2011 Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.

PMID 28488678 2017 A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

PMID 14981189 2004 Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.

PMID 18579805 2008 Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.

PMID 27108798 2016 A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

PMID 25574826 2015 CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

PMID 26770814 2016 ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.

PMID 25794864 2015 Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

PMID 22986007 2012 Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

PMID 17590087 2007 Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

PMID 12611586 2003 Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1.

rs786200952 in KAT6A gene and Muscle hypotonia

PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs786205232 in KCNA2 gene and Muscle hypotonia

PMID 25751627 2015 De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

PMID 8663992 1996 Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel.

PMID 8046438 1994 Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain.

PMID 8158277 1994 Contrasting subcellular localization of the Kv1.2 K+ channel subunit in different neurons of rat brain.

PMID 9525859 1998 The structure of the potassium channel: molecular basis of K+ conduction and selectivity.

PMID 25477152 2015 Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

PMID 8663993 1996 Contribution of the S4 segment to gating charge in the Shaker K+ channel.

PMID 27733563 2016 Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

PMID 28019717 2017 Reply.

PMID 27543892 2016 A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

PMID 27062609 2017 Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

PMID 28032718 2017 De novo KCNA2 mutations cause hereditary spastic paraplegia.

PMID 21044565 2010 Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2.

PMID 20696761 2010 A new Kv1.2 channelopathy underlying cerebellar ataxia.

PMID 16002581 2005 Crystal structure of a mammalian voltage-dependent Shaker family K+ channel.

PMID 27117551 2016 Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.

PMID 14765197 2004 A proton pore in a potassium channel voltage sensor reveals a focused electric field.

PMID 1706481 1991 Determination of the subunit stoichiometry of a voltage-activated potassium channel.

PMID 17634333 2007 Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons.

PMID 16704338 2006 How does voltage open an ion channel?

PMID 15694325 2005 Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores.

PMID 1377421 1992 An essential 'set' of K+ channels conserved in flies, mice and humans.

PMID 16075038 2005 The channelopathies: novel insights into molecular and genetic mechanisms of human disease.

PMID 16002579 2005 Voltage sensor of Kv1.2: structural basis of electromechanical coupling.

PMID 12214225 2002 The voltage-gated potassium channels and their relatives.

PMID 12127166 2002 Contributions of Kv1.2, Kv1.5 and Kv2.1 subunits to the native delayed rectifier K(+) current in rat mesenteric artery smooth muscle cells.

PMID 11331357 2001 Histidine scanning mutagenesis of basic residues of the S4 segment of the shaker k+ channel.

rs1553344875 in KCNH1 gene and Muscle hypotonia

PMID 18203178 2008 A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).

PMID 26264464 2015 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

PMID 25711872 2015 Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

PMID 25915598 2015 Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

PMID 9738473 1998 Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion.

PMID 26818738 2016 De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.

PMID 25420144 2015 Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

PMID 23424202 2013 Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice.

rs797044938 in KCNQ2 gene and Muscle hypotonia

PMID 10781098 2000 Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.

PMID 8327138 1993 Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 6965523 1980 Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone.

PMID 28602030 2017 Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

PMID 27861786 2017 Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 9430594 1998 A potassium channel mutation in neonatal human epilepsy.

PMID 29129156 2017 A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 10323247 1999 Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 15608631 2005 Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 17675531 2007 Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

PMID 17872363 2007 Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

PMID 18238816 2008 Nervous system KV7 disorders: breakdown of a subthreshold brake.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

rs1555873985 in KCNQ2;KCNQ2-AS1 gene and Muscle hypotonia

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 6965523 1980 Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone.

PMID 10781098 2000 Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.

PMID 9430594 1998 A potassium channel mutation in neonatal human epilepsy.

PMID 8327138 1993 Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

PMID 22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

PMID 17872363 2007 Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

PMID 17675531 2007 Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

PMID 10323247 1999 Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 18238816 2008 Nervous system KV7 disorders: breakdown of a subthreshold brake.

PMID 28602030 2017 Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 15608631 2005 Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

PMID 27861786 2017 Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 29129156 2017 A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

rs749205120 in KCNQ3 gene and Muscle hypotonia

PMID 25740509 2015 Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

PMID 10852552 2000 A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.

PMID 19298256 2009 Neural KCNQ (Kv7) channels.

PMID 23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

PMID 23596459 2013 Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 23146207 2013 Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.

PMID 24375629 2014 Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 26350515 2016 Novel genetic causes for cerebral visual impairment.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 9425900 1998 A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs672601370 in KIF1A gene and Muscle hypotonia

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 21487076 2011 Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.

PMID 25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

PMID 26125038 2015 De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

PMID 22258533 2012 KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

PMID 28332297 2017 Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.

PMID 21820098 2011 KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

PMID 28708278 2018 Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

PMID 25585697 2015 Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

PMID 28835676 2017 Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

PMID 27034427 2016 Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.

PMID 28362824 2017 Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

PMID 26410750 2015 Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

rs1555036394 in KMT2A gene and Muscle hypotonia

PMID 25810209 2016 Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

PMID 22795537 2012 De novo mutations in MLL cause Wiedemann-Steiner syndrome.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 24886118 2014 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

PMID 23457195 2013 Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.

PMID 25186178 2014 Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

PMID 7583381 1995 Abnormalities of chromosome band 11q23 and the MLL gene in pediatric myelomonocytic and monoblastic leukemias. Identification of the t(9;11) as an indicator of long survival.

PMID 7802037 1994 "Hypertrichosis ""cubiti"" with facial asymmetry."

PMID 27777327 2017 Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

PMID 25929198 2015 A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

PMID 2738900 1989 Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

PMID 25574841 2015 Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PMID 20541448 2010 Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemogenesis.

PMID 12453418 2002 MLL targets SET domain methyltransferase activity to Hox gene promoters.

PMID 27759909 2017 Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

PMID 8634439 1996 Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites.

PMID 8361504 1993 Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.

PMID 28359930 2017 Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

rs1555052879 in KMT2A;LOC101929089 gene and Muscle hypotonia

PMID 24886118 2014 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

PMID 25810209 2016 Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

PMID 7802037 1994 "Hypertrichosis ""cubiti"" with facial asymmetry."

PMID 23457195 2013 Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.

PMID 7583381 1995 Abnormalities of chromosome band 11q23 and the MLL gene in pediatric myelomonocytic and monoblastic leukemias. Identification of the t(9;11) as an indicator of long survival.

PMID 25574841 2015 Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

PMID 8361504 1993 Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 2738900 1989 Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 28359930 2017 Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

PMID 20541448 2010 Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemogenesis.

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

PMID 25186178 2014 Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

PMID 8634439 1996 Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites.

PMID 22795537 2012 De novo mutations in MLL cause Wiedemann-Steiner syndrome.

PMID 27759909 2017 Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

PMID 27777327 2017 Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PMID 25929198 2015 A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

PMID 12453418 2002 MLL targets SET domain methyltransferase activity to Hox gene promoters.

rs587783685 in KMT2D gene and Muscle hypotonia

PMID 28884922 2017 Congenital heart defects in molecularly proven Kabuki syndrome patients.

PMID 9285441 1997 Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

PMID 28295206 2017 Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

PMID 3067577 1988 Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

PMID 28884889 2017 Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

PMID 27573763 2016 A novel KMT2D mutation resulting in Kabuki syndrome: A case report.

PMID 27991736 2017 KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

PMID 28256057 2017 Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

PMID 26898171 2016 Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

PMID 27568880 2016 Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

PMID 22126750 2012 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

PMID 26194542 2016 Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

PMID 14608645 2003 Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

PMID 27778401 2017 Pilomatricoma Associated with Kabuki Syndrome.

PMID 23320472 2013 MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

PMID 22304445 2013 Multiple pilomatricomas in Kabuki syndrome.

PMID 12482968 2003 Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.

PMID 25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

PMID 26049589 2015 Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

PMID 16603732 2006 Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 14699623 2004 Hepatic fibrosis in Kabuki syndrome.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

rs1555028206 in KMT5B gene and Muscle hypotonia

PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 15145825 2004 A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin.

rs767889331 in LAMA1 gene and Muscle hypotonia

PMID 15102706 2004 Compositional and structural requirements for laminin and basement membranes during mouse embryo implantation and gastrulation.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 9151674 1997 The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform.

PMID 25105227 2014 Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

PMID 6795355 1981 Shapes, domain organizations and flexibility of laminin and fibronectin, two multifunctional proteins of the extracellular matrix.

PMID 27095636 2016 Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

PMID 20048158 2010 Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation.

PMID 23263632 2013 The laminin family.

PMID 10607917 1999 Restricted distribution of laminin alpha1 chain in normal adult mouse tissues.

PMID 2591971 1989 Human laminin A chain (LAMA) gene: chromosomal mapping to locus 18p11.3.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 23161681 2013 Update on activities at the Universal Protein Resource (UniProt) in 2013.

PMID 19553699 2009 Crystal structure of the LG1-3 region of the laminin alpha2 chain.

PMID 24013853 2014 Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

rs1209130981 in LAMA2 gene and Muscle hypotonia

PMID 24223650 2013 Merosin-deficient congenital muscular dystrophy type 1A: A case report.

PMID 21953594 2011 Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.

PMID 12552556 2003 Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.

PMID 26304763 2016 Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.

PMID 20207543 2010 Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.

PMID 18700894 2008 LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.

rs1426926688 in LAMC3 gene and Muscle hypotonia

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 21572413 2011 Recessive LAMC3 mutations cause malformations of occipital cortical development.

rs121434407 in LOC101929270;GLE1 gene and Muscle hypotonia

PMID 18204449 2008 Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

PMID 25343993 2015 Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

PMID 27684565 2017 Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

PMID 3993672 1985 A lethal autosomal recessive syndrome of multiple congenital contractures.

PMID 23421748 2013 Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences.

PMID 28884921 2017 Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

PMID 24961629 2015 An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

rs1555889114 in LOC105372649;KCNB1 gene and Muscle hypotonia

PMID 27928161 2017 Novel KCNB1 mutation associated with non-syndromic intellectual disability.

PMID 27652284 2016 Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

PMID 25164438 2014 De novo KCNB1 mutations in epileptic encephalopathy.

PMID 7751950 1995 Differential spatiotemporal expression of K+ channel polypeptides in rat hippocampal neurons developing in situ and in vitro.

PMID 26477325 2015 De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.

PMID 15950285 2005 Kv2.1: a voltage-gated k+ channel critical to dynamic control of neuronal excitability.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

rs869320713 in LOC107984190;ZMYND11 gene and Muscle hypotonia

PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

rs80358312 in LRP5 gene and Muscle hypotonia

PMID 15824851 2005 Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

PMID 20652025 2010 LRP5 is required for vascular development in deeper layers of the retina.

PMID 28111184 2017 LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia.

PMID 28677207 2017 New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss.

PMID 22487062 2012 Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

PMID 15346351 2004 Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

PMID 12054167 2002 Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13.

PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 12579474 2003 Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

rs104894229 in LRRC56;HRAS gene and Muscle hypotonia

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 19382114 2009 Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

PMID 22926243 2012 Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

PMID 21850009 2011 HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

rs1057516904 in MCOLN1 gene and Muscle hypotonia

PMID 9448310 1998 Constitutive achlorhydria in mucolipidosis type IV.

PMID 9710036 1998 Mucolipidosis type IV: characteristic MRI findings.

PMID 9680151 1998 Electroencephalographic findings in patients with mucolipidosis type IV.

PMID 11317355 2001 Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

PMID 11874766 2002 Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV.

PMID 11845410 2002 Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

PMID 27357649 2016 MCOLN1 is a ROS sensor in lysosomes that regulates autophagy.

PMID 25668017 2015 Lysosomal physiology.

PMID 12182165 2002 The neurogenetics of mucolipidosis type IV.

PMID 11461186 2001 Mucolipidosis type IV.

PMID 24332805 2014 Quantitative neuroimaging in mucolipidosis type IV.

rs1557136758 in MECP2 gene and Muscle hypotonia

PMID 24458799 2014 MECP2 duplication: possible cause of severe phenotype in females.

PMID 27354166 2016 Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

PMID 18337588 2008 Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

PMID 21154482 2010 Rett syndrome: revised diagnostic criteria and nomenclature.

PMID 23421866 2013 Using a large international sample to investigate epilepsy in Rett syndrome.

PMID 17351020 2007 MECP2 mutations in males.

PMID 8177735 1993 Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.

PMID 17236109 2006 Male Rett phenotypes in T158M and R294X MeCP2-mutations.

PMID 24399845 2014 Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

PMID 16832102 2006 Early progressive encephalopathy in boys and MECP2 mutations.

PMID 12615169 2003 Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

PMID 11227330 2001 Epilepsy in a representative series of Rett syndrome.

PMID 17267601 2007 Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

PMID 11058114 2000 Functional consequences of Rett syndrome mutations on human MeCP2.

PMID 15057977 2004 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

PMID 16169931 2006 Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

PMID 15558314 2005 Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.

PMID 11035019 2001 DNA recognition by the methyl-CpG binding domain of MeCP2.

PMID 10508514 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

rs1555239936 in MED13L gene and Muscle hypotonia

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 28588821 2017 Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

PMID 29159987 2018 MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

PMID 5167861 1971 [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis].

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 24781760 2015 Further confirmation of the MED13L haploinsufficiency syndrome.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25758992 2015 Redefining the MED13L syndrome.

PMID 25137640 2014 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

PMID 28645799 2017 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

PMID 25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

PMID 14638541 2003 Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

PMID 28371282 2017 MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

PMID 23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

rs1554139771 in MEF2C gene and Muscle hypotonia

PMID 19471318 2009 A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

PMID 19592390 2010 MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

PMID 17959722 2007 MEF2: a central regulator of diverse developmental programs.

PMID 27255693 2016 MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

PMID 20513142 2010 Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 18579729 2008 Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells.

PMID 22498567 2012 Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.

PMID 23389741 2013 MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

PMID 22670137 2012 The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.

rs1382444181 in METTL23 gene and Muscle hypotonia

PMID 24501276 2014 METTL23, a transcriptional partner of GABPA, is essential for human cognition.

PMID 24626631 2014 Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.

rs1553251507 in MINDY1;PRUNE1 gene and Muscle hypotonia

PMID 28334956 2017 PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 28211990 2017 Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.

PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

rs1553353206 in MIR4742;WDR26 gene and Muscle hypotonia

PMID 28686853 2017 WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

rs121918243 in MMACHC gene and Muscle hypotonia

PMID 26658511 2015 Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

PMID 26283149 2015 MMACHC gene mutation in familial hypogonadism with neurological symptoms.

PMID 21748409 2012 Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

PMID 19370762 2009 Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

PMID 25398587 2014 Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

PMID 16311595 2006 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

PMID 16714133 2006 Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

rs147334255 in MN1 gene and Muscle hypotonia

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 25549701 2014 Exome sequencing on malignant meningiomas identified mutations in neurofibromatosis type 2 (NF2) and meningioma 1 (MN1) genes.

PMID 11094079 2000 The MN1-TEL fusion protein, encoded by the translocation (12;22)(p13;q11) in myeloid leukemia, is a transcription factor with transforming activity.

PMID 11559848 2001 The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

PMID 15890672 2005 The 1,25(OH)2D3-regulated transcription factor MN1 stimulates vitamin D receptor-mediated transcription and inhibits osteoblastic cell proliferation.

PMID 7731706 1995 Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.

PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 22436304 2012 Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.

PMID 18948418 2008 The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.

PMID 15870292 2005 Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.

PMID 19919682 2009 BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources.

PMID 12569362 2003 The MN1 oncoprotein synergizes with coactivators RAC3 and p300 in RAR-RXR-mediated transcription.

PMID 7731705 1995 Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11.

PMID 19386590 2009 Meningioma 1 is required for appropriate osteoblast proliferation, motility, differentiation, and function.

rs1553259529 in MPZ gene and Muscle hypotonia

PMID 26310628 2015 Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

PMID 9595994 1998 Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.

PMID 23290023 2013 Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.

PMID 15004559 2004 Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 19293842 2009 Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.

PMID 17663472 2007 Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.

PMID 10553995 1999 The Roussy-Lévy family: from the original description to the gene.

PMID 10764043 2000 "Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible ""hotspot"" on Thr124Met."

PMID 10071056 1999 The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

PMID 14638973 2003 Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.

PMID 11080237 2000 An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

PMID 10406984 1999 Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

rs201337850 in MRPS22 gene and Muscle hypotonia

PMID 21189481 2011 Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.

PMID 28752220 2017 A patient with mitochondrial disorder due to a novel mutation in MRPS22.

PMID 25663021 2015 MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.

PMID 17873122 2007 Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.

PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.

rs1555907215 in MSL3 gene and Muscle hypotonia

PMID 16227571 2005 A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.

PMID 20943666 2010 Structural and biochemical studies on the chromo-barrel domain of male specific lethal 3 (MSL3) reveal a binding preference for mono- or dimethyllysine 20 on histone H4.

PMID 25900149 2015 The MSL complex: juggling RNA-protein interactions for dosage compensation and beyond.

PMID 24898753 2014 Mof-associated complexes have overlapping and unique roles in regulating pluripotency in embryonic stem cells and during differentiation.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 20657587 2010 Corecognition of DNA and a methylated histone tail by the MSL3 chromodomain.

PMID 15988010 2005 The MRG domain mediates the functional integration of MSL3 into the dosage compensation complex.

rs760048191 in MSMO1 gene and Muscle hypotonia

PMID 25896808 2015 Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.

PMID 22935719 2012 Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.

PMID 20929975 2011 Malformation syndromes caused by disorders of cholesterol synthesis.

PMID 23622407 2013 Cholesterol metabolism deficiency.

PMID 24144731 2014 The role of sterol-C4-methyl oxidase in epidermal biology.

PMID 21285510 2011 Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

PMID 8663358 1996 Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue.

PMID 25148791 2014 Personalized diagnosis and management of congenital cataract by next-generation sequencing.

rs977277400 in MYBPC3 gene and Muscle hypotonia

PMID 7493025 1995 Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.

PMID 23840593 2013 Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 10424815 1999 Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.

PMID 21492761 2011 Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

rs1553996876 in NAA15 gene and Muscle hypotonia

PMID 12888564 2003 An evolutionarily conserved N-terminal acetyltransferase complex associated with neuronal development.

PMID 28990276 2018 Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

rs1060505041 in NACC1 gene and Muscle hypotonia

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 28132692 2017 A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

rs1158141270 in NALCN gene and Muscle hypotonia

PMID 27214504 2016 Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.

PMID 27473021 2016 Muscle biopsy findings in a child with NALCN gene mutation.

PMID 23749988 2013 Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.

PMID 24075186 2013 Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

PMID 27633718 2016 A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis.

PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

PMID 27558372 2016 NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.

PMID 25683120 2015 De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

PMID 28133733 2017 Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.

rs137852863 in NDUFAF2 gene and Muscle hypotonia

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 22644603 2012 Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 20571988 2010 Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.

PMID 10649489 2000 Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.

PMID 19384974 2009 Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

PMID 18180188 2008 The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

PMID 16950771 2006 Bovine complex I is a complex of 45 different subunits.

PMID 16200211 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

rs1197561990 in NEB gene and Muscle hypotonia

PMID 10051637 1999 Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 15336686 2004 Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

PMID 12207937 2002 Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 15266303 2004 Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

PMID 17525139 2007 Distal myopathy caused by homozygous missense mutations in the nebulin gene.

PMID 21724397 2011 Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

PMID 2838409 1988 Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.

PMID 19805734 2009 Core-rod myopathy caused by mutations in the nebulin gene.

PMID 27933661 2017 Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

rs1556016642 in NEXMIF gene and Muscle hypotonia

PMID 27568816 2017 De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.

PMID 25900396 2015 Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

PMID 23352160 2013 Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

PMID 24307393 2014 Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

PMID 19524067 2009 Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

PMID 26290131 2015 X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.

PMID 26576034 2016 KIAA2022 nonsense mutation in a symptomatic female.

PMID 27358180 2016 De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

PMID 22531377 2012 Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth.

PMID 23615299 2013 Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

PMID 15466006 2004 Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.

rs137854562 in NF1 gene and Muscle hypotonia

PMID 23354915 2013 Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.

PMID 9375928 1997 Do NF1 gene deletions result in a characteristic phenotype?

PMID 23165953 2012 Increased risk of breast cancer in women with NF1.

PMID 23244495 2012 Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

PMID 26178382 2015 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

PMID 26758488 2016 Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

PMID 25951773 2016 Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.

PMID 23047742 2013 Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

PMID 27170677 2017 Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.

PMID 28213670 2017 Emerging genotype-phenotype relationships in patients with large NF1 deletions.

PMID 6025371 1967 Pulmonary stenosis, café-au-lait spots, and dull intelligence.

PMID 23812910 2013 Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

PMID 25324428 2015 Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.

PMID 16786042 2006 A prospective study of neurofibromatosis type 1 cancer incidence in the UK.

PMID 18172006 2008 Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.

PMID 17105749 2007 Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.

PMID 22041710 2011 Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.

PMID 23656349 2014 A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

PMID 21089071 2011 Legius syndrome in fourteen families.

PMID 27322474 2016 Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

PMID 1770531 1991 Watson syndrome: is it a subtype of type 1 neurofibromatosis?

PMID 25325900 2014 The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

PMID 24219125 2014 Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.

PMID 17369502 2007 Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening.

PMID 19117870 2009 Neurofibromatosis type 1 revisited.

PMID 10726756 2000 Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

PMID 20142468 2010 Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.

PMID 16835897 2006 Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

PMID 19539839 2009 Neurofibromatosis type 1.

PMID 22429592 2012 Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 16542390 2006 Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

rs1553666033 in NGLY1;OXSM gene and Muscle hypotonia

PMID 24651605 2014 Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

PMID 27388694 2017 Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

PMID 17088551 2006 Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module.

PMID 12711318 2003 Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 11562482 2001 Identification of proteins that interact with mammalian peptide:N-glycanase and implicate this hydrolase in the proteasome-dependent pathway for protein degradation.

rs1555349184 in NKX2-1-AS1;SFTA3;NKX2-1 gene and Muscle hypotonia

PMID 26196025 2015 Benign Hereditary Chorea: An Update.

PMID 23911641 2013 NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

PMID 24930029 2014 A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.

PMID 19336474 2009 Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

PMID 22832740 2012 Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.

PMID 7635972 1995 Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1.

PMID 21292530 2011 Benign hereditary chorea: an update.

PMID 28677170 2017 Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas.

PMID 24714694 2014 Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

PMID 12891678 2003 Benign hereditary chorea: clinical, genetic, and pathological findings.

PMID 15289765 2004 Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

PMID 11854319 2002 Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

rs1554728529 in NOTCH1 gene and Muscle hypotonia

PMID 19597493 2009 De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

PMID 10946361 2000 Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.

PMID 16729972 2006 Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.

PMID 18593716 2008 NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

PMID 22318994 2012 Human gene copy number spectra analysis in congenital heart malformations.

PMID 21457232 2012 Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.

PMID 10221902 1999 Notch signaling: cell fate control and signal integration in development.

PMID 23578328 2013 Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.

PMID 16025100 2005 Mutations in NOTCH1 cause aortic valve disease.

PMID 19610107 2009 The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

PMID 17662764 2007 Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.

PMID 22245843 2012 Disruption of Notch1 induces vascular remodeling, intussusceptive angiogenesis, and angiosarcomas in livers of mice.

PMID 23613382 2013 Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome.

PMID 24273032 2014 Nodular regenerative hyperplasia in a patient with generalized essential telangiectasia: endotheliopathy as a causal factor.

PMID 25963545 2015 Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

PMID 24862819 2014 Severe phenotype in two half-sibs with Adams Oliver syndrome.

PMID 28160419 2017 Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

PMID 25132448 2014 Mutations in NOTCH1 cause Adams-Oliver syndrome.

PMID 25914885 2019 Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.

rs80358252 in NPC1 gene and Muscle hypotonia

PMID 9425535 1997 Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease.

PMID 19744920 2010 The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

PMID 15459971 2004 A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.

PMID 22572546 2012 Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

PMID 10521297 1999 Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.

PMID 20525256 2010 Niemann-Pick disease type C.

PMID 12974729 2003 Niemann-Pick disease type C.

rs1554074684 in NR2F1;NR2F1-AS1 gene and Muscle hypotonia

PMID 28654857 2017 Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation.

PMID 26138355 2016 Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

PMID 26986877 2016 The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

PMID 25877686 2015 Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 11511537 2001 COUP-TFI: an intrinsic factor for early regionalization of the neocortex.

PMID 24462372 2014 NR2F1 mutations cause optic atrophy with intellectual disability.

PMID 23300014 2013 NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.

PMID 14738874 2004 The nuclear orphan receptor COUP-TFI is important for differentiation of oligodendrocytes.

PMID 20147377 2010 COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis.

PMID 10624948 1999 The nuclear orphan receptor COUP-TFI is required for differentiation of subplate neurons and guidance of thalamocortical axons.

PMID 19812316 2009 The spatial patterning of mouse cone opsin expression is regulated by bone morphogenetic protein signaling through downstream effector COUP-TF nuclear receptors.

rs397515440 in NUBPL gene and Muscle hypotonia

PMID 23828044 2013 Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model.

PMID 12805096 2003 Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

PMID 22826544 2012 Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

PMID 22072591 2012 Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.

PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 10214753 1999 Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder.

PMID 18497740 2008 The iron-sulphur protein Ind1 is required for effective complex I assembly.

PMID 21766414 2011 The molecular basis of human complex I deficiency.

PMID 22499348 2012 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

PMID 19336460 2009 Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

PMID 23553477 2013 NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

PMID 22972949 2012 Complex I deficiency: clinical features, biochemistry and molecular genetics.

PMID 19752196 2009 Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.

rs121918166 in OCA2 gene and Muscle hypotonia

PMID 12469324 2003 A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.

PMID 21085994 2011 High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.

PMID 10094567 1999 Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

PMID 11310796 2001 The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.

PMID 21292473 2011 Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PMID 15712365 2005 P gene mutations associated with oculocutaneous albinism type II (OCA2).

PMID 25093188 2014 Mutational analysis of oculocutaneous albinism: a compact review.

PMID 11464238 2001 The spectrum of Familial Mediterranean Fever (FMF) mutations.

PMID 15889046 2005 Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.

PMID 26818737 2016 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

PMID 8421497 1993 A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.

rs1555907034 in OFD1 gene and Muscle hypotonia

PMID 27081566 2016 Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

PMID 24884629 2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

PMID 25238977 2014 Simpson-Golabi-Behmel syndrome types I and II.

PMID 16783569 2006 A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

PMID 10892847 2000 Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

PMID 19876934 2009 The molecular basis of oral-facial-digital syndrome, type 1.

PMID 22353940 2012 Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

PMID 15466260 2004 OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

PMID 22619378 2012 Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

PMID 16311594 2006 Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.

PMID 23033313 2013 Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

PMID 19396822 2009 Are the oral-facial-digital syndromes ciliopathies?

PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

PMID 19800048 2009 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

rs794727804 in OPA1 gene and Muscle hypotonia

PMID 14644237 2003 The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

PMID 20157015 2010 Multi-system neurological disease is common in patients with OPA1 mutations.

PMID 16158427 2005 Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

PMID 12566046 2003 A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

PMID 26561570 2016 Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

PMID 23384603 2013 Sensorineural hearing loss in OPA1-linked disorders.

PMID 22857269 2012 Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

PMID 23387428 2013 Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

PMID 14961560 2003 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

PMID 27656661 2016 A multiple sclerosis-like disorder in patients with OPA1 mutations.

PMID 28841713 2017 Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

PMID 26385429 2015 Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.

PMID 27150940 2016 Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

rs773157352 in OTX2 gene and Muscle hypotonia

PMID 22577225 2012 OTX2 mutations contribute to the otocephaly-dysgnathia complex.

PMID 18728160 2008 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

PMID 24167467 2013 Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

rs398123009 in PACS1 gene and Muscle hypotonia

PMID 23159249 2012 Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

PMID 25522177 2015 Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.

PMID 28975623 2018 A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.

PMID 9695949 1998 PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization.

PMID 28111752 2017 Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.

PMID 26842493 2016 Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

rs62514895 in PAH gene and Muscle hypotonia

PMID 11328945 2001 Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study.

PMID 17410469 2007 Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU.

PMID 20188615 2010 Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.

PMID 17443661 2007 The PAH gene, phenylketonuria, and a paradigm shift.

PMID 17935162 2008 Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

PMID 22965559 2013 Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings.

PMID 15665165 2005 Maternal phenylketonuria: report from the United Kingdom Registry 1978-97.

PMID 11581453 2001 National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.

PMID 15171997 2004 The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

PMID 8406445 1993 Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

PMID 14760268 2004 Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: the importance of strict dietary control preconception and throughout pregnancy.

PMID 18566668 2008 Phenylketonuria: an inborn error of phenylalanine metabolism.

PMID 25596310 2015 Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.

PMID 11043162 2000 Mutation analysis anticipates dietary requirements in phenylketonuria.

PMID 23792259 2013 Mutation analysis in hyperphenylalaninemia patients from South Italy.

PMID 23514811 2013 Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

PMID 9399896 1997 Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

rs1553183771 in PARS2 gene and Muscle hypotonia

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 25385316 2015 Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

PMID 25629079 2015 Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.

PMID 28077841 2017 PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.

PMID 24639874 2014 The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

PMID 15779907 2005 Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.

rs1555985372 in PCDH19 gene and Muscle hypotonia

PMID 26765483 2016 PCDH19-related epilepsy in two mosaic male patients.

PMID 28669061 2017 Male patients affected by mosaic PCDH19 mutations: five new cases.

PMID 18469813 2008 X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

PMID 21519002 2011 Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

PMID 22050978 2012 PCDH19 mutation in Japanese females with epilepsy.

PMID 28462982 2017 Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.

PMID 19752159 2010 Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.

PMID 21480887 2011 Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

PMID 22267240 2012 PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.

PMID 18234694 2008 Epilepsy and mental retardation limited to females: an under-recognized disorder.

PMID 21053371 2011 Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

PMID 20713952 2010 Protocadherin 19 mutations in girls with infantile-onset epilepsy.

PMID 27016041 2016 PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.

PMID 19214208 2009 Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

PMID 21463275 2011 The genetics of Dravet syndrome.

PMID 22946748 2012 Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.

rs137853252 in PDHA1 gene and Muscle hypotonia

PMID 15384102 2004 Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

PMID 7887408 1995 Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

PMID 26008863 2015 Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

PMID 25526709 2015 The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

PMID 27144126 2016 Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

PMID 27896109 2014 Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

PMID 26944031 2016 Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

PMID 21914562 2011 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

PMID 10679936 2000 Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

PMID 23021068 2012 Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

rs267608247 in PEX6 gene and Muscle hypotonia

PMID 22871920 2012 Genetics and molecular basis of human peroxisome biogenesis disorders.

PMID 17055079 2006 Peroxisome biogenesis disorders.

PMID 8670792 1996 The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

PMID 11873320 2002 A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

PMID 15098231 2004 Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

PMID 26593283 2016 PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

PMID 15098234 2004 Metabolic and molecular basis of peroxisomal disorders: a review.

rs1556019107 in PHF6 gene and Muscle hypotonia

PMID 24092917 2013 A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

PMID 27633282 2016 Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

PMID 14756673 2004 The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

PMID 27094817 2016 Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

PMID 12415272 2002 Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

PMID 13871358 1962 An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.

rs1557099144 in PHF8 gene and Muscle hypotonia

PMID 17594395 2007 A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

PMID 20622853 2010 Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 19843542 2010 PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.

PMID 18498374 2008 Autism-associated familial microdeletion of Xp11.22.

PMID 17661819 2007 Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

PMID 16199551 2005 Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

rs1555682938 in PIGN gene and Muscle hypotonia

PMID 26879448 2016 Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

PMID 24852103 2014 Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

PMID 26364997 2016 A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.

PMID 21493957 2011 Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

PMID 18635593 2008 Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress.

PMID 26394714 2016 Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

PMID 27038415 2016 Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

PMID 10574991 1999 Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol.

PMID 26419326 2016 A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.

PMID 24253414 2014 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.

PMID 25920937 2015 The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

rs747661902 in PIGQ gene and Muscle hypotonia

PMID 9729469 1998 Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.

PMID 22265715 2012 GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics.

PMID 9463366 1998 The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.

PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

PMID 24852103 2014 Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

PMID 11418246 2001 The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis.

PMID 10373468 1999 GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.

PMID 25851949 2015 PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

rs763243200 in PKDCC gene and Muscle hypotonia

PMID 19097194 2009 Short limbs, cleft palate, and delayed formation of flat proliferative chondrocytes in mice with targeted disruption of a putative protein kinase gene, Pkdcc (AW548124).

PMID 23559552 2013 A morpholino-based screen to identify novel genes involved in craniofacial morphogenesis.

PMID 23792766 2013 The hedgehog target Vlk genetically interacts with Gli3 to regulate chondrocyte differentiation during mouse long bone development.

PMID 25171405 2014 A secreted tyrosine kinase acts in the extracellular environment.

PMID 19465597 2009 The novel protein kinase Vlk is essential for stromal function of mesenchymal cells.

rs397514481 in PLCB4 gene and Muscle hypotonia

PMID 23315542 2013 Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

PMID 18314001 2008 Question mark ears and post-auricular tags.

PMID 27007857 2016 Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

PMID 16114046 2005 Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.

PMID 28328130 2017 Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

rs80338701 in PMM2 gene and Muscle hypotonia

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 10854097 2000 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

PMID 11343337 2001 Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 28373276 2017 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

rs80338708 in PMM2;LOC100130283 gene and Muscle hypotonia

PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 11343337 2001 Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 10854097 2000 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 28373276 2017 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

rs104894621 in PMP22 gene and Muscle hypotonia

PMID 18698610 2008 Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

PMID 11523566 2001 EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.

PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PMID 10369870 1999 Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

PMID 12439896 2002 Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 18592125 2008 A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.

PMID 10211478 1999 Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.

PMID 1523566 1992 [The reflexotherapy of patients with respiratory allergoses].

PMID 24646194 2014 PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

PMID 23781966 2013 Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.

PMID 23224996 2013 The PMP22 gene and its related diseases.

PMID 26076881 2015 Molecular and clinical features of inherited neuropathies due to PMP22 duplication.

PMID 24726093 2014 Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience.

PMID 24534835 2014 Charcot-Marie-Tooth disease variants-classification, clinical, and genetic features and rational diagnostic evaluation.

PMID 8275092 1993 Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.

PMID 24668782 2014 Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.

PMID 9004143 1996 Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.

PMID 7728152 1995 Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.

PMID 9543325 1998 Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.

rs963172852 in PMPCA gene and Muscle hypotonia

PMID 11020385 2000 Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates.

PMID 27148589 2016 Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.

PMID 25808372 2015 PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

PMID 26657514 2016 Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

PMID 22495024 2013 Processing peptidases in mitochondria and chloroplasts.

PMID 9700204 1998 Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.

rs1313319892 in POGZ gene and Muscle hypotonia

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 24463507 2014 De novo mutations in schizophrenia implicate synaptic networks.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 23375656 2013 Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

PMID 28480548 2017 Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

PMID 27148570 2015 De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.

PMID 26942287 2016 Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

PMID 26739615 2016 POGZ truncating alleles cause syndromic intellectual disability.

PMID 9862965 1999 Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.

PMID 25694107 2015 A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

rs747947002 in PPM1D gene and Muscle hypotonia

PMID 26847329 2016 Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.

PMID 23242139 2013 Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.

PMID 24911145 2014 Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 26823519 2016 PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 28343630 2017 De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

PMID 18265945 2008 The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.

PMID 22065775 2012 Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents.

rs863225082 in PPP2R5D;MEA1 gene and Muscle hypotonia

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 8703017 1996 The B56 family of protein phosphatase 2A (PP2A) regulatory subunits encodes differentiation-induced phosphoproteins that target PP2A to both nucleus and cytoplasm.

PMID 20017541 2010 Molecular determinants for PP2A substrate specificity: charged residues mediate dephosphorylation of tyrosine hydroxylase by the PP2A/B' regulatory subunit.

PMID 26576547 2016 De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

PMID 26168268 2015 B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

PMID 25972378 2015 Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

rs1557084120 in PRAF2;WDR45 gene and Muscle hypotonia

PMID 24847269 2014 Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

PMID 26173968 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

PMID 24621584 2014 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

PMID 25263061 2014 Early manifestations of BPAN in a pediatric patient.

PMID 20562859 2010 Network organization of the human autophagy system.

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

rs137852540 in PRPS1 gene and Muscle hypotonia

PMID 8968763 1996 Mapping of DFN2 to Xq22.

PMID 25785835 2015 Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

PMID 26089585 2015 Association of PRPS1 Mutations with Disease Phenotypes.

PMID 8498830 1993 X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

PMID 25491489 2014 Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

PMID 20021999 2010 Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

PMID 15955956 2005 A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

PMID 24528855 2014 X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

PMID 17701896 2007 Arts syndrome is caused by loss-of-function mutations in PRPS1.

PMID 20380929 2010 PRPS1 mutations: four distinct syndromes and potential treatment.

PMID 24285972 2013 Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

PMID 12847698 2003 Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.

rs1553253812 in PRUNE1 gene and Muscle hypotonia

PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 28334956 2017 PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.

PMID 28211990 2017 Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.

rs1554708787 in PTCH1 gene and Muscle hypotonia

PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

PMID 26604511 2015 Gorlin-Goltz Syndrome: Case report and literature review.

PMID 26356331 2016 Basal cell nevus syndrome: clinical and molecular review and case report.

PMID 24529220 2014 Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome.

PMID 15545745 2005 Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

PMID 25403219 2014 Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.

PMID 12879481 2003 Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature.

PMID 24204797 2013 PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

PMID 8840969 1996 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.

PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

PMID 9096761 1997 Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.

PMID 9231911 1997 The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.

rs1555912049 in PTCHD1 gene and Muscle hypotonia

PMID 23871722 2013 XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

PMID 25131214 2015 Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

PMID 21091464 2011 Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.

PMID 20844286 2010 Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

PMID 25782667 2015 Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.

rs121909231 in PTEN gene and Muscle hypotonia

PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.

PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.

PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.

PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

rs797044884 in PTRH2;CLTC gene and Muscle hypotonia

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 23911319 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

PMID 20206336 2010 Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

PMID 22831640 2012 Diversity of clathrin function: new tricks for an old protein.

PMID 24234437 2014 ClinVar: public archive of relationships among sequence variation and human phenotype.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 24870542 2014 A draft map of the human proteome.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 22511880 2012 Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

PMID 8375651 1993 The Drosophila clathrin heavy chain gene: clathrin function is essential in a multicellular organism.

PMID 9147638 1997 Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

PMID 9671304 1998 Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins.

PMID 26822784 2016 CLTC as a clinically novel gene associated with multiple malformations and developmental delay.

PMID 16618797 2006 Requirement of clathrin heavy chain for p53-mediated transcription.

PMID 11955450 2002 Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release.

PMID 18762582 2008 Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 16982422 2006 Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 1063406 1976 Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles.

PMID 15217342 2004 The synaptic vesicle cycle.

PMID 15858577 2005 Clathrin is required for the function of the mitotic spindle.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

rs1554128999 in PURA gene and Muscle hypotonia

PMID 26582469 2015 Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

PMID 23950017 2013 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

PMID 25342064 2014 Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

PMID 22711443 2012 Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

PMID 27148565 2015 De novo mutations in PURA are associated with hypotonia and developmental delay.

PMID 25439098 2014 Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

PMID 29150892 2018 Expanding the neurodevelopmental phenotype of PURA syndrome.

PMID 29097605 2018 PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

PMID 28164378 2017 Patient with a novel purine-rich element binding protein A mutation.

PMID 28486374 2017 Premature Thelarche and the PURA Syndrome.

PMID 19182532 2009 Multiple roles for Puralpha in cellular and viral regulation.

PMID 1706516 1991 Dendritic location of neural BC1 RNA.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 17698009 2007 Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

PMID 21594995 2011 A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.

PMID 12972605 2003 Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.

PMID 18266931 2008 Proteomic analysis of nuclear factors binding to an intronic enhancer in the myelin proteolipid protein gene.

rs864622194 in RAB9B;PLP1 gene and Muscle hypotonia

PMID 27179222 2016 Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.

PMID 11761472 2001 Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.

PMID 8780101 1996 Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.

PMID 17568416 2007 Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations.

PMID 16778599 2006 Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.

PMID 16130097 2005 Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.

PMID 2479017 1989 Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

PMID 7541901 1995 The proteolipid protein gene.

PMID 9418954 1997 Redefining the lipophilin family of proteolipid proteins.

PMID 15627202 2005 PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

PMID 8520726 1995 Neuropathology and genetics of Pelizaeus-Merzbacher disease.

PMID 11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

rs80338796 in RAF1 gene and Muscle hypotonia

PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 26903553 2016 Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

PMID 24777450 2014 RAF1 mutations in childhood-onset dilated cardiomyopathy.

PMID 26446362 2016 Recent advances in RASopathies.

PMID 22826437 2012 Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.

PMID 23613113 2013 A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.

PMID 22389993 2012 Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

PMID 23877478 2014 Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 19437094 2009 Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 20052757 2010 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

rs397518483 in RARB gene and Muscle hypotonia

PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 22318625 2012 Retinoic acid signalling during development.

PMID 27120018 2016 Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

PMID 25457163 2015 Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

PMID 17506106 2007 The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.

rs1555902810 in RBFOX2 gene and Muscle hypotonia

PMID 27211866 2016 RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes.

PMID 16260614 2005 Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.

PMID 27485310 2016 Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.

PMID 25205790 2014 Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 25753418 2015 Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure.

rs1556779417 in RBM10 gene and Muscle hypotonia

PMID 5410571 1970 Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect.

PMID 20451169 2010 Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.

PMID 28577551 2017 Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.

PMID 21910224 2011 Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.

PMID 24530524 2014 RBM10 regulates alternative splicing.

PMID 24259342 2014 Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

rs1554818540 in RET gene and Muscle hypotonia

PMID 9067749 1997 Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease.

PMID 7906417 1994 Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.

PMID 22429592 2012 Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

PMID 8918855 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.

PMID 7881414 1994 Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

PMID 22429913 2012 Multiple endocrine neoplasias type 2B and RET proto-oncogene.

PMID 22041710 2011 Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.

PMID 19469690 2009 Medullary thyroid cancer: management guidelines of the American Thyroid Association.

PMID 18063059 2007 Pheochromocytoma penetrance varies by RET mutation in MEN 2A.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 20087666 2010 Update multiple endocrine neoplasia type 2.

PMID 17965226 2008 Hirschsprung disease, associated syndromes and genetics: a review.

rs115079861 in RMND1 gene and Muscle hypotonia

PMID 26395190 2016 Hearing impairment and renal failure associated with RMND1 mutations.

PMID 23022098 2012 An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

PMID 18835491 2008 Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis.

PMID 27412952 2016 The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 23022099 2012 Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

PMID 25604853 2015 RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

PMID 26238252 2016 Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

rs886039763 in RPL36A-HNRNPH2;HNRNPH2 gene and Muscle hypotonia

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 27545675 2016 Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

rs1555939377 in RPS6KA3 gene and Muscle hypotonia

PMID 15668050 2005 RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

PMID 11180593 2001 Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

PMID 20637903 2011 Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 12030896 2002 Cognitive function in Coffin-Lowry syndrome.

PMID 17100996 2006 Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

PMID 25044551 2014 The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

PMID 24859339 2014 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

PMID 24311527 2014 Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

PMID 26043507 2015 A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.

rs1248355799 in RYR1 gene and Muscle hypotonia

PMID 23553484 2013 Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.

PMID 23394784 2013 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

PMID 20839240 2010 RYR1 mutations are a common cause of congenital myopathies with central nuclei.

PMID 16163667 2005 Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

PMID 16380615 2005 Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

PMID 4149045 1973 Anesthetic-induced malignant hyperpyrexia in children.

PMID 23919265 2013 Genotype-phenotype correlations in recessive RYR1-related myopathies.

PMID 16917943 2006 Mutations in RYR1 in malignant hyperthermia and central core disease.

PMID 20583297 2010 Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

PMID 18765655 2008 King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.

PMID 9199552 1997 Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

PMID 8661021 1996 The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

rs1555254256 in SACS gene and Muscle hypotonia

PMID 18465152 2008 ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

PMID 19208651 2009 The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.

PMID 16961075 2006 Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 11788093 2001 Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 12873855 2003 Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.

PMID 17846221 2007 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.

PMID 17683082 2008 Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.

PMID 10655055 2000 ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.

PMID 16007637 2005 Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.

PMID 15985586 2005 A phenotype without spasticity in sacsin-related ataxia.

PMID 25401298 2015 A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

PMID 14718708 2004 Identification of a SACS gene missense mutation in ARSACS.

PMID 23497566 2013 Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

PMID 27871429 2016 Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

PMID 23280630 2013 Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

PMID 22751902 2012 Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.

PMID 22441213 2012 Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.

PMID 26288984 2015 New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 20876471 2010 Mutations in SACS cause atypical and late-onset forms of ARSACS.

PMID 8472930 1993 Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.

PMID 21450511 2011 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.

rs1057518496 in SATB2 gene and Muscle hypotonia

PMID 17377962 2007 Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

PMID 16960803 2006 Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.

PMID 10417281 1999 A locus for isolated cleft palate, located on human chromosome 2q32.

PMID 16751105 2006 SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.

PMID 19576302 2010 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.

PMID 12915443 2003 Identification of SATB2 as the cleft palate gene on 2q32-q33.

PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.

PMID 19668335 2009 Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

PMID 28170089 2017 DEPDC5 mutations in familial and sporadic focal epilepsy.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 24301056 2014 Further delineation of the SATB2 phenotype.

PMID 24363063 2014 Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

PMID 28211976 2017 A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.

PMID 23925499 2013 Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

PMID 2918541 1989 Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

PMID 27668656 2016 TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 27409069 2016 Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.

PMID 25885067 2015 Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

PMID 28151491 2017 Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

rs1553583712 in SCN2A gene and Muscle hypotonia

PMID 1325650 1992 Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.

PMID 20351042 2010 Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.

PMID 17386050 2007 SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 1658783 1991 Brain and heart sodium channel subtype mRNA expression in rat cerebral cortex.

PMID 18809926 2008 Disulfide locking a sodium channel voltage sensor reveals ion pair formation during activation.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 18479388 2008 Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.

PMID 26645390 2016 Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 28379373 2017 Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

PMID 28256214 2017 Opposing Effects on Na_V1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.

PMID 20346423 2010 Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.

PMID 23827426 2013 SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 26291284 2015 SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.

PMID 15249644 2004 Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A.

PMID 20006674 2010 Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 22029951 2012 Clinical spectrum of SCN2A mutations.

PMID 23935176 2013 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

PMID 25163687 2014 Genotype phenotype associations across the voltage-gated sodium channel family.

PMID 24579881 2014 Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 15101391 2004 Evolutionary convergence of alternative splicing in ion channels.

PMID 17467289 2007 A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 19786696 2009 De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 11245985 2001 Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.

PMID 15048894 2004 Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 1658739 1991 Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs.

PMID 10198179 1999 Evolution and diversity of mammalian sodium channel genes.

rs867587467 in SCN4A gene and Muscle hypotonia

PMID 15482957 2004 Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.

PMID 26700687 2016 Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

PMID 10944223 2000 Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

PMID 25839108 2015 Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

PMID 26427606 2015 SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.

PMID 26484179 2015 Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing.

PMID 19118277 2009 Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

rs1555226081 in SCN8A gene and Muscle hypotonia

PMID 25785782 2015 SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

PMID 25725044 2015 De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

PMID 25239001 2014 Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.

PMID 9295353 1997 Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells.

PMID 26252990 2016 Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.

PMID 27270488 2016 SCN8A encephalopathy: Research progress and prospects.

PMID 26220391 2015 Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

PMID 26677014 2016 Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

PMID 26029160 2015 Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

PMID 28702509 2017 Loss-of-function variants of SCN8A in intellectual disability without seizures.

PMID 9828131 1998 Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 26900580 2016 Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

PMID 25799905 2015 Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.

PMID 7751906 1995 A novel, abundant sodium channel expressed in neurons and glia.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 24352161 2014 De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 24874546 2014 A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

PMID 25914188 2015 Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PMID 16236810 2006 Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

PMID 24888894 2014 Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

PMID 22365152 2012 De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

PMID 10745221 2000 Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

rs1553881510 in SEPSECS gene and Muscle hypotonia

PMID 26115735 2015 Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

PMID 26805434 2016 Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.

PMID 20920667 2010 Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.

PMID 12920088 2003 Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

PMID 26888482 2016 Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.

PMID 25044680 2014 Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

rs1554776342 in SET gene and Muscle hypotonia

PMID 27775603 2016 Zinc Finger and X-Linked Factor (ZFX) Binds to Human SET Transcript 2 Promoter and Transactivates SET Expression.

PMID 11231286 2001 Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

rs1555706391 in SETBP1 gene and Muscle hypotonia

PMID 18398855 2008 Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.

PMID 20436468 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

PMID 21037274 2011 Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.

PMID 23832012 2013 Somatic SETBP1 mutations in myeloid malignancies.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 25028416 2015 West syndrome in a patient with Schinzel-Giedion syndrome.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 25663181 2015 Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 28346496 2017 Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

rs797044953 in SETD5 gene and Muscle hypotonia

PMID 28881385 2018 Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

PMID 16919862 2007 The control of histone lysine methylation in epigenetic regulation.

PMID 17100993 2006 Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.

PMID 15774718 2005 Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9.

PMID 17151600 2007 Genome-wide atlas of gene expression in the adult mouse brain.

PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 7477409 1995 Altered Hox expression and segmental identity in Mll-mutant mice.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 22965684 2012 Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.

PMID 21082655 2010 Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1.

PMID 27375234 2016 SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

PMID 28866611 2018 Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

PMID 22986149 2013 Like a rolling histone: epigenetic regulation of neural stem cells and brain development by factors controlling histone acetylation and methylation.

PMID 27334371 2016 Mutations in HECW2 are associated with intellectual disability and epilepsy.

PMID 16086857 2005 The SET-domain protein superfamily: protein lysine methyltransferases.

PMID 19760623 2009 Microarray based analysis of 3p25-p26 deletions (3p- syndrome).

PMID 14681479 2004 GenePaint.org: an atlas of gene expression patterns in the mouse embryo.

PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

PMID 17013555 2006 SET domain protein lysine methyltransferases: Structure, specificity and catalysis.

PMID 23613140 2013 Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.

PMID 24680889 2014 De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

PMID 11390661 2001 The polycomb-group gene Ezh2 is required for early mouse development.

PMID 12805229 2003 NSD1 is essential for early post-implantation development and has a catalytically active SET domain.

PMID 12540855 2003 Structure and catalytic mechanism of the human histone methyltransferase SET7/9.

PMID 12130538 2002 G9a histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis.

rs267607048 in SHOC2 gene and Muscle hypotonia

PMID 21548061 2011 Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

PMID 23918763 2013 Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

PMID 25137548 2014 A Novel SHOC2 Variant in Rasopathy.

PMID 25331583 2014 Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.

PMID 25846317 2015 Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

rs1555444885 in SIN3A gene and Muscle hypotonia

PMID 27399968 2016 Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

PMID 24189169 2014 Sin3: insight into its transcription regulatory functions.

PMID 16055712 2005 The mSin3A chromatin-modifying complex is essential for embryogenesis and T-cell development.

PMID 25527279 2015 Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability.

PMID 15998811 2005 mSin3A corepressor regulates diverse transcriptional networks governing normal and neoplastic growth and survival.

PMID 19505602 2009 Sin3: master scaffold and transcriptional corepressor.

PMID 9620804 1998 Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex.

PMID 22180641 2012 Further clinical and molecular delineation of the 15q24 microdeletion syndrome.

PMID 10801981 2000 The O-GlcNAc transferase gene resides on the X chromosome and is essential for embryonic stem cell viability and mouse ontogeny.

PMID 12150998 2002 Recruitment of O-GlcNAc transferase to promoters by corepressor mSin3A: coupling protein O-GlcNAcylation to transcriptional repression.

PMID 10734093 2000 The co-repressor mSin3A is a functional component of the REST-CoREST repressor complex.

PMID 10022921 1999 A new member of the Sin3 family of corepressors is essential for cell viability and required for retroelement propagation in fission yeast.

PMID 9799435 1998 The Drosophila Sin3 gene encodes a widely distributed transcription factor essential for embryonic viability.

rs387907306 in SKI gene and Muscle hypotonia

PMID 23023332 2012 Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

PMID 15884042 2005 Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

PMID 27146836 2016 Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

PMID 23103230 2012 In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

PMID 24736733 2015 The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

rs587784384 in SLC16A2 gene and Muscle hypotonia

PMID 15889350 2005 Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

PMID 21896621 2011 A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment.

PMID 21098685 2011 Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

PMID 20628049 2010 Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.

PMID 18398436 2008 MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

PMID 23550058 2013 Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.

PMID 24629861 2014 Inherited defects in thyroid hormone cell-membrane transport and metabolism.

PMID 22805248 2013 MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

PMID 27672545 2016 Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.

PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

PMID 14661163 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

PMID 2393019 1990 Allan-Herndon syndrome. I. Clinical studies.

PMID 24665922 2014 Genetic disorders of thyroid metabolism and brain development.

PMID 12871948 2003 Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.

rs1293033867 in SLC18A2 gene and Muscle hypotonia

PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

PMID 23911319 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

PMID 26497564 2016 Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

PMID 23363473 2013 Brain dopamine-serotonin vesicular transport disease and its treatment.

rs886041081 in SLC25A4 gene and Muscle hypotonia

PMID 27693233 2016 Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

rs1557043622 in SLC35A2 gene and Muscle hypotonia

PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs148234606 in SLC52A2 gene and Muscle hypotonia

PMID 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

PMID 27702554 2016 SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.

PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

rs1167512470 in SLC52A3 gene and Muscle hypotonia

PMID 26976849 2016 SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.

PMID 25462087 2015 Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.

PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

PMID 22740598 2012 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

PMID 22824638 2012 Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

rs1553689580 in SLC6A1 gene and Muscle hypotonia

PMID 12451126 2002 Number, density, and surface/cytoplasmic distribution of GABA transporters at presynaptic structures of knock-in mice carrying GABA transporter subtype 1-green fluorescent protein fusions.

PMID 25865495 2015 Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 26716362 2016 Mosaic mutations in early-onset genetic diseases.

PMID 9623887 1998 Neuronal and glial localization of GAT-1, a high-affinity gamma-aminobutyric acid plasma membrane transporter, in human cerebral cortex: with a note on its distribution in monkey cortex.

rs122453113 in SLC6A8 gene and Muscle hypotonia

PMID 15234334 2004 Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

PMID 16738945 2006 X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

PMID 28065824 2017 Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.

PMID 24137762 2010 The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

PMID 23644449 2013 Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

PMID 24190795 2014 A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.

PMID 20846889 2010 Treatment of intractable epilepsy in a female with SLC6A8 deficiency.

PMID 15154114 2004 High prevalence of SLC6A8 deficiency in X-linked mental retardation.

PMID 20528887 2011 Clinical features and X-inactivation in females heterozygous for creatine transporter defect.

PMID 10893433 2000 Creatine and creatinine metabolism.

PMID 27081545 2015 A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.

rs1556886034 in SMC1A gene and Muscle hypotonia

PMID 7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

PMID 26354354 2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PMID 28548707 2017 Phenotypes and genotypes in individuals with SMC1A variants.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 22106055 2012 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

PMID 23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

PMID 28102598 2017 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

PMID 26752331 2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

PMID 25537356 2015 Clinical utility gene card for: Cornelia de Lange syndrome.

PMID 26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 19842212 2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

rs1556889640 in SMC1A;MIR6857 gene and Muscle hypotonia

PMID 26752331 2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

PMID 7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

PMID 25537356 2015 Clinical utility gene card for: Cornelia de Lange syndrome.

PMID 28102598 2017 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 22106055 2012 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

PMID 26354354 2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

PMID 28548707 2017 Phenotypes and genotypes in individuals with SMC1A variants.

PMID 23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

PMID 19842212 2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

rs1382415023 in SON gene and Muscle hypotonia

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

PMID 23001566 2012 An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

PMID 25782155 2015 Accurate splicing of HDAC6 pre-mRNA requires SON.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 20581448 2010 SON is a spliceosome-associated factor required for mitotic progression.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 20053686 2010 Son is essential for nuclear speckle organization and cell cycle progression.

PMID 24013217 2013 SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 22193954 2011 Son maintains accurate splicing for a subset of human pre-mRNAs.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 21504830 2011 SON controls cell-cycle progression by coordinated regulation of RNA splicing.

PMID 19961433 2010 Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 11306577 2001 Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON.

PMID 1944255 1991 [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells].

PMID 22948023 2013 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

PMID 9185665 1997 Molecular cloning of Fyn-associated molecules in the mouse central nervous system.

PMID 3054499 1988 [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins].

PMID 10509013 1999 A selection system for human apoptosis inhibitors using yeast.

PMID 23416452 2013 mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.

PMID 10950926 2000 Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes.

PMID 12606581 2003 HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo.

PMID 27545680 2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

PMID 16033648 2005 A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain.

rs1555301854 in SOX5 gene and Muscle hypotonia

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 26111154 2015 Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.

PMID 23220431 2013 Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 29214085 2017 SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.

PMID 22290657 2012 Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

rs797044850 in SPAST gene and Muscle hypotonia

PMID 22554690 2012 Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

PMID 17101632 2006 A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

PMID 18190593 2008 Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.

PMID 14681884 2003 Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.

PMID 23122959 2012 Normal spastin gene dosage is specifically required for axon regeneration.

PMID 10610178 1999 Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

PMID 15326248 2004 Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.

PMID 11309678 2001 Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

PMID 19453301 2009 Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.

PMID 20562464 2010 Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.

PMID 17100993 2006 Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.

PMID 25065914 2014 The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

PMID 24478365 2014 Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.

PMID 25315759 2014 A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.

PMID 26208798 2015 Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 26374131 2016 Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

PMID 26671083 2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

PMID 23438842 2014 Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

PMID 26094131 2015 Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

rs1555537637 in SPNS2 gene and Muscle hypotonia

PMID 25356849 2014 Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.

PMID 19074308 2009 The sphingolipid transporter spns2 functions in migration of zebrafish myocardial precursors.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

rs1555392032 in SPRED1 gene and Muscle hypotonia

PMID 20339110 2010 Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)?

PMID 20179001 2010 SPRED 1 mutations in a neurofibromatosis clinic.

PMID 11493923 2001 Spred is a Sprouty-related suppressor of Ras signalling.

PMID 17704776 2007 Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

PMID 19443465 2009 SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

PMID 19366998 2009 SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 21089071 2011 Legius syndrome in fourteen families.

PMID 21548021 2011 Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

PMID 21495177 2011 Observations on intelligence and behavior in 15 patients with Legius syndrome.

PMID 21649642 2011 Identification of five novel SPRED1 germline mutations in Legius syndrome.

PMID 24334617 2013 Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

PMID 3128965 1988 Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

PMID 22753041 2012 Review and update of SPRED1 mutations causing Legius syndrome.

rs769987150 in SPTBN2 gene and Muscle hypotonia

PMID 22090485 2011 β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis.

PMID 20603325 2010 Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.

PMID 16429157 2006 Spectrin mutations cause spinocerebellar ataxia type 5.

PMID 20371805 2010 Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.

PMID 23838597 2014 Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

PMID 22914369 2013 Case of infantile onset spinocerebellar ataxia type 5.

PMID 28636205 2017 Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

PMID 23236289 2012 Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

rs1555815437 in SPTBN4 gene and Muscle hypotonia

PMID 11404407 2001 Drosophila alpha- and beta-spectrin mutations disrupt presynaptic neurotransmitter release.

PMID 11807096 2002 [Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier.

PMID 16429157 2006 Spectrin mutations cause spinocerebellar ataxia type 5.

PMID 11528393 2001 Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice.

PMID 11086001 2000 betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system.

PMID 23673272 2014 Spectrins: a structural platform for stabilization and activation of membrane channels, receptors and transporters.

PMID 28940097 2017 Expanding the genetic heterogeneity of intellectual disability.

PMID 23838597 2014 Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

PMID 10811832 2000 Mutations in beta-spectrin disrupt axon outgrowth and sarcomere structure.

PMID 22843192 2013 A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat.

PMID 10997877 2000 Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PMID 20493457 2010 Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.

PMID 23236289 2012 Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

rs765191836 in SRD5A3-AS1;SRD5A3 gene and Muscle hypotonia

PMID 24433453 2014 Adult phenotype and further phenotypic variability in SRD5A3-CDG.

PMID 27480077 2016 SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.

PMID 20852264 2010 A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

PMID 28253385 2017 Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

PMID 20637498 2010 SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

PMID 20700148 2011 Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.

PMID 26219881 2016 Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.

rs1555494259 in STX1B gene and Muscle hypotonia

PMID 25362483 2014 Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

PMID 27781031 2016 Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

PMID 8105537 1993 Characterization of a presynaptic glutamate receptor.

rs1554777375 in STXBP1 gene and Muscle hypotonia

PMID 20887364 2010 STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.

PMID 20876469 2010 Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 21062273 2011 Paternal mosaicism of an STXBP1 mutation in OS.

PMID 21770924 2011 Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 17301226 2007 Munc18-1 binds directly to the neuronal SNARE complex.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 21204804 2010 STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.

PMID 21762454 2011 STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

PMID 19557857 2009 De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

PMID 18469812 2008 De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

PMID 27184330 2016 Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.

PMID 26537360 2016 Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.

PMID 22722545 2012 Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

PMID 16806828 2006 A new paradigm for West syndrome based on molecular and cell biology.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 9545644 1998 Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.

PMID 21364700 2011 Intellectual disability without epilepsy associated with STXBP1 disruption.

PMID 25621899 2015 Whole-genome sequencing of quartet families with autism spectrum disorder.

PMID 24836964 2014 Dravet syndrome--from epileptic encephalopathy to channelopathy.

PMID 26865513 2016 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

PMID 26514728 2015 Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

PMID 23409955 2013 Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.

PMID 25914188 2015 Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PMID 25714420 2015 A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

rs782316919 in SURF1 gene and Muscle hypotonia

PMID 26443249 2015 Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

PMID 16225813 2005 Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

PMID 19780766 2009 SURF1 missense mutations promote a mild Leigh phenotype.

PMID 26762927 2016 Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.

rs1131692154 in SYNGAP1 gene and Muscle hypotonia

PMID 15312654 2004 SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.

PMID 28576131 2017 Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

PMID 26989088 2016 Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 27827368 2016 Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.

PMID 19196676 2009 Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

PMID 23141534 2012 Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.

PMID 20531469 2010 Functional impact of global rare copy number variation in autism spectrum disorders.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 21237447 2011 De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

PMID 26079862 2015 De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 23161826 2013 Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

rs1554121353 in SYNGAP1;MIR5004 gene and Muscle hypotonia

PMID 28576131 2017 Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

PMID 15312654 2004 SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.

PMID 26079862 2015 De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

PMID 26989088 2016 Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 21237447 2011 De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

PMID 19196676 2009 Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 23161826 2013 Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 23141534 2012 Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 20531469 2010 Functional impact of global rare copy number variation in autism spectrum disorders.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 27827368 2016 Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

rs1555226395 in SYT1 gene and Muscle hypotonia

PMID 27476655 2016 ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

PMID 18275379 2008 How does synaptotagmin trigger neurotransmitter release?

PMID 12110842 2002 The C(2)B Ca(2+)-binding motif of synaptotagmin is required for synaptic transmission in vivo.

PMID 14715137 2004 N-glycosylation is essential for vesicular targeting of synaptotagmin 1.

PMID 7477324 1995 Defective recycling of synaptic vesicles in synaptotagmin mutants of Caenorhabditis elegans.

PMID 21307261 2011 Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo.

PMID 15456828 2004 Dual roles of the C2B domain of synaptotagmin I in synchronizing Ca2+-dependent neurotransmitter release.

PMID 25775572 2015 Transmembrane tethering of synaptotagmin to synaptic vesicles controls multiple modes of neurotransmitter release.

PMID 7954835 1994 Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse.

PMID 23283333 2013 Genetic analysis of synaptotagmin C2 domain specificity in regulating spontaneous and evoked neurotransmitter release.

PMID 26030874 2015 Dynamic binding mode of a Synaptotagmin-1-SNARE complex in solution.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 15492212 2004 Kinetic efficiency of endocytosis at mammalian CNS synapses requires synaptotagmin I.

PMID 11668675 2001 Drosophila synaptotagmin I null mutants survive to early adulthood.

PMID 25698934 2015 Bruchpilot and Synaptotagmin collaborate to drive rapid glutamate release and active zone differentiation.

PMID 19926819 2010 Cyclic AMP-mediated endocytosis of intestinal epithelial NHE3 requires binding to synaptotagmin 1.

PMID 25705886 2015 Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

PMID 24183019 2013 Neurotransmitter release: the last millisecond in the life of a synaptic vesicle.

rs1553810244 in TBL1XR1 gene and Muscle hypotonia

PMID 26740553 2016 Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.

PMID 28687524 2017 Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

PMID 28588275 2017 De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.

PMID 28562391 2017 Pierpont syndrome: report of a new patient.

PMID 26769062 2016 A specific mutation in TBL1XR1 causes Pierpont syndrome.

PMID 25425123 2015 A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.

PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 24891185 2014 De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

PMID 25102098 2014 A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

rs1555923822 in TCF20 gene and Muscle hypotonia

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 18351660 2008 Discovery of transcription factors and other candidate regulators of neural crest development.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 27436265 2016 De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.

PMID 25228304 2014 De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

PMID 17151600 2007 Genome-wide atlas of gene expression in the adult mouse brain.

rs1057521070 in TCF4 gene and Muscle hypotonia

PMID 19938247 2009 Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.

PMID 21533127 2011 Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

PMID 21671391 2011 The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

PMID 19235238 2009 Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

PMID 18728071 2008 Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

PMID 17478476 2007 Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

PMID 27072915 2016 Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.

PMID 18081026 2008 A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.

PMID 22335494 2013 Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.

PMID 20825314 2010 E2-2 protein and Fuchs's corneal dystrophy.

PMID 18627065 2008 Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.

PMID 22712893 2012 Development, cognition, and behaviour in Pitt-Hopkins syndrome.

PMID 23185296 2012 A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.

PMID 26087656 2015 Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.

PMID 22678594 2012 Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 21245398 2011 Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.

PMID 22045651 2012 Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.

PMID 17436255 2007 Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

PMID 17436254 2007 Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

PMID 22460224 2012 Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.

PMID 28807867 2017 Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

PMID 24077912 2014 The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

rs1553292105 in TGFB2;TGFB2-AS1 gene and Muscle hypotonia

PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

PMID 22772368 2012 Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

PMID 25163805 2014 Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

PMID 24193348 2014 A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

PMID 22772371 2012 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

PMID 26017485 2015 First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.

PMID 24577266 2014 Loeys-Dietz syndrome: a primer for diagnosis and management.

rs1553630221 in TGFBR2 gene and Muscle hypotonia

PMID 24793577 2014 The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

PMID 21098638 2010 Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 21593863 2011 Lessons on the pathogenesis of aneurysm from heritable conditions.

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 26724507 2016 A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease.

rs150940923 in THOC6 gene and Muscle hypotonia

PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).

PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.

PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.

PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.

PMID 15998806 2005 Recruitment of the human TREX complex to mRNA during splicing.

PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

rs200426926 in THOC6;BICDL2 gene and Muscle hypotonia

PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.

PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

PMID 15998806 2005 Recruitment of the human TREX complex to mRNA during splicing.

PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).

PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.

PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.

PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

rs138632121 in THOC6;HCFC1R1 gene and Muscle hypotonia

PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).

PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.

PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.

PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

PMID 15998806 2005 Recruitment of the human TREX complex to mRNA during splicing.

PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.

rs746765465 in THRA gene and Muscle hypotonia

PMID 24969835 2014 Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

PMID 27144938 2016 Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.

PMID 22168587 2012 A mutation in the thyroid hormone receptor alpha gene.

PMID 23633213 2013 Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 25670821 2015 Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

PMID 26037512 2015 A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.

PMID 22494134 2012 Clinical phenotype and mutant TRα1.

PMID 23940126 2013 An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.

rs797044891 in TIMM50 gene and Muscle hypotonia

PMID 17435247 2007 Involvement of the mitochondrial protein translocator component tim50 in growth, cell proliferation and the modulation of respiration in Drosophila.

PMID 12437925 2002 Tim50 is a subunit of the TIM23 complex that links protein translocation across the outer and inner mitochondrial membranes.

PMID 14517234 2003 Tim14, a novel key component of the import motor of the TIM23 protein translocase of mitochondria.

PMID 16763150 2006 Tim50 maintains the permeability barrier of the mitochondrial inner membrane.

PMID 12191765 2002 Protein import into and across the mitochondrial inner membrane: role of the TIM23 and TIM22 translocons.

PMID 15044455 2004 Tim50, a component of the mitochondrial translocator, regulates mitochondrial integrity and cell death.

PMID 16008839 2005 Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts with proteins involved in snRNP biogenesis.

PMID 27573165 2017 Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

PMID 12437924 2002 The mitochondrial presequence translocase: an essential role of Tim50 in directing preproteins to the import channel.

PMID 16055927 2006 Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

PMID 19111522 2009 Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.

PMID 11114504 2000 The rotary mechanism of ATP synthase.

rs1555661506 in TLK2 gene and Muscle hypotonia

PMID 25849321 2016 Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.

PMID 23869254 2012 The Tousled-Like Kinases as Guardians of Genome Integrity.

PMID 10523312 1999 Mammalian homologues of the plant Tousled gene code for cell-cycle-regulated kinases with maximal activities linked to ongoing DNA replication.

PMID 23911319 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

rs1247427997 in TMCO1 gene and Muscle hypotonia

PMID 24424126 2014 Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

PMID 20018682 2010 Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

PMID 24194475 2014 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

PMID 23320496 2013 Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

rs201893408 in TMEM67 gene and Muscle hypotonia

PMID 20232449 2010 Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

PMID 25920555 2016 Joubert syndrome: genotyping a Northern European patient cohort.

PMID 27491411 2016 Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 25729630 2014 Unraveling the genetics of Joubert and Meckel-Gruber syndromes.

PMID 19778711 2009 Joubert syndrome: insights into brain development, cilium biology, and complex disease.

PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

PMID 10508989 1999 Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.

rs1553704696 in TRIP12 gene and Muscle hypotonia

PMID 22884692 2012 TRIP12 and UBR5 suppress spreading of chromatin ubiquitylation at damaged chromosomes.

PMID 17940072 2008 The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.

PMID 18252223 2008 Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

PMID 24265227 2014 The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes.

PMID 20676075 2010 MutationTaster evaluates disease-causing potential of sequence alterations.

PMID 20208519 2010 Transcription-independent ARF regulation in oncogenic stress-mediated p53 responses.

PMID 22511880 2012 Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

PMID 18822396 2009 Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 19028681 2009 The HECT domain of TRIP12 ubiquitinates substrates of the ubiquitin fusion degradation pathway.

PMID 26777411 2016 Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications.

PMID 22028794 2011 The E3 ubiquitin ligase activity of Trip12 is essential for mouse embryogenesis.

PMID 25418537 2014 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

PMID 27848077 2017 Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

PMID 21784246 2011 FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 24265389 2013 Response to comment on: Draznin et al. Pathways to quality inpatient management of hyperglycemia and diabetes: a call to action. Diabetes Care 2013;36:1807-1814.

PMID 28251352 2017 Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

PMID 9759494 1998 The ubiquitin system.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

rs587777744 in TRMT10A gene and Muscle hypotonia

PMID 25053765 2014 TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.

PMID 24204302 2013 tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.

PMID 26297882 2015 Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus.

PMID 26535115 2015 Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.

PMID 26526202 2016 tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.

rs387906905 in TRPV4 gene and Muscle hypotonia

PMID 21288981 2011 TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.

rs878854324 in TTN;TTN-AS1 gene and Muscle hypotonia

PMID 21810661 2011 Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.

PMID 21617319 2011 Contribution of genetic factors to the pathogenesis of dilated cardiomyopathy: the cause of dilated cardiomyopathy: genetic or acquired? (genetic-side).

PMID 17444505 2007 C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

PMID 12669942 2003 Left ventricular systolic dysfunction and ischemic cardiomyopathy.

PMID 18948003 2008 Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

PMID 1745277 1991 Muscular dystrophy with separate clinical phenotypes in a large family.

PMID 11717165 2001 The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system.

PMID 12145747 2002 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

PMID 10462489 1999 Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.

PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 23418287 2013 Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

PMID 24105469 2014 Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

PMID 24395473 2014 Atypical phenotypes in titinopathies explained by second titin mutations.

PMID 23518707 2013 Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.

rs1057517858 in TUBA1A gene and Muscle hypotonia

PMID 17584854 2007 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

PMID 25008804 2015 Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

PMID 23361065 2013 Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

PMID 23528852 2014 A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

PMID 24860126 2014 The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

PMID 18669490 2008 Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 18728072 2008 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

PMID 22264709 2012 TUBA1A mutation-associated lissencephaly: case report and review of the literature.

PMID 18954413 2008 Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

PMID 20466733 2010 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

rs587777357 in TUBB gene and Muscle hypotonia

PMID 23246003 2012 Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

PMID 24833723 2014 TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons.

PMID 26637975 2015 Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

rs587777429 in TUBB4A gene and Muscle hypotonia

PMID 21956287 2011 Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.

PMID 23582646 2013 A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 20191564 2010 Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 12372733 2002 New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 25085639 2014 TUBB4A de novo mutations cause isolated hypomyelination.

PMID 24526230 2014 Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.

PMID 24742798 2014 Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.

PMID 25168210 2015 TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 24850488 2014 Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

PMID 24706558 2014 Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

PMID 27188707 2016 Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.

PMID 26318963 2015 Large-scale TUBB4A mutational screening in isolated dystonia and controls.

PMID 28655586 2017 Screening study of TUBB4A in isolated dystonia.

PMID 26643067 2016 TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

PMID 28592043 2017 [A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A) gene and literature review].

PMID 24974158 2015 A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.

PMID 25545912 2015 H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs1556235119 in UBE2A gene and Muscle hypotonia

PMID 16909393 2006 UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.

PMID 21108393 2010 UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

PMID 24053514 2013 X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.

PMID 23685073 2013 Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.

PMID 20412111 2010 Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

PMID 28611923 2017 A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

PMID 25287747 2015 UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.

rs1304422857 in UBE3B gene and Muscle hypotonia

PMID 28003643 2017 Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

PMID 12837265 2003 Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.

PMID 23687348 2013 Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

PMID 24615390 2014 Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

PMID 23200864 2012 Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

PMID 28003368 2017 UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.

PMID 29160006 2018 Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

PMID 25691420 2015 Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

rs1555922391 in USP9X gene and Muscle hypotonia

PMID 24607389 2014 Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.

PMID 25763846 2015 Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

PMID 26833328 2016 De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

PMID 28688840 2017 Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

PMID 24690944 2014 Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

rs120074152 in VPS13B gene and Muscle hypotonia

PMID 15498460 2004 Analysis of the human VPS13 gene family.

PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

PMID 17990063 2007 Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

PMID 16648375 2006 Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

PMID 11477603 2001 Cohen syndrome: essential features, natural history, and heterogeneity.

PMID 12730828 2003 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

PMID 26104215 2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

PMID 9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PMID 21418059 2011 Clinical variability of genetic isolates of Cohen syndrome.

PMID 20656880 2010 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.

rs864321692 in WAC gene and Muscle hypotonia

PMID 26757981 2016 De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

PMID 21522184 2011 Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

PMID 26325558 2015 Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 26264232 2015 WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

rs387907329 in WDR45;PRAF2 gene and Muscle hypotonia

PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

PMID 24621584 2014 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 25263061 2014 Early manifestations of BPAN in a pediatric patient.

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

PMID 20562859 2010 Network organization of the human autophagy system.

PMID 26173968 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

PMID 24847269 2014 Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

rs1006898944 in WDR62 gene and Muscle hypotonia

PMID 28386937 2018 A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.

PMID 21834044 2011 Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

PMID 20890279 2010 WDR62 is associated with the spindle pole and is mutated in human microcephaly.

PMID 20729831 2010 Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

PMID 20890278 2010 Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.

rs121908119 in WNT10A;LOC107984111 gene and Muscle hypotonia

PMID 19559398 2009 WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

PMID 17847007 2007 Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 28105635 2017 Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study.

PMID 24700731 2014 The WNT10A gene in ectodermal dysplasias and selective tooth agenesis.

PMID 24043634 2014 WNT10A variants are associated with non-syndromic tooth agenesis in the general population.

rs1553270522 in ZBTB18 gene and Muscle hypotonia

PMID 25131622 2014 Clinical whole exome sequencing in child neurology practice.

PMID 27598823 2017 Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.

PMID 9756912 1998 RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression.

PMID 22095278 2012 RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.

PMID 23494996 2013 Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

PMID 19409883 2009 The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex.

PMID 9568537 1997 C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain.

PMID 20672375 2010 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

PMID 11179890 2001 Zinc finger proteins: new insights into structural and functional diversity.

PMID 17668379 2007 Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

PMID 22513377 2012 Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development.

PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

PMID 24193349 2014 A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PMID 20059953 2009 A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.

PMID 17447250 2007 Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain.

PMID 22234186 2012 RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex.

PMID 22678713 2012 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

PMID 21934713 2012 Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.

PMID 11350943 2001 Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription.

PMID 14681759 2003 Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 10567577 1999 The zinc finger-associated SCAN box is a conserved oligomerization domain.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 11854316 2002 Transcription factor haploinsufficiency: when half a loaf is not enough.

rs797044863 in ZC4H2 gene and Muscle hypotonia

PMID 23623388 2013 ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

PMID 26056227 2015 ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

rs1556004813 in ZDHHC9 gene and Muscle hypotonia

PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

PMID 24357419 2014 Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

PMID 17436253 2007 Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 25649377 2015 Next-generation sequencing in X-linked intellectual disability.

rs1553961516 in ZEB2 gene and Muscle hypotonia

PMID 17958891 2007 Mowat-Wilson syndrome.

PMID 16053902 2005 Clinical and mutational spectrum of Mowat-Wilson syndrome.

PMID 19764019 2009 Mandibuloacral dysplasia type A in childhood.

PMID 26721324 2016 Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

PMID 27831545 2017 Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

PMID 19842203 2009 Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.

PMID 21343952 2011 Clinical utility gene card for: Mowat-Wilson syndrome.

PMID 26809768 2016 A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.

rs797044854 in ZMYND11 gene and Muscle hypotonia

PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

PMID 25281490 2015 A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

PMID 24963723 2014 ZMYND11: an H3.3-specific reader of H3K36me3.

PMID 23372760 2013 Structural and functional analysis of the DEAF-1 and BS69 MYND domains.

PMID 22847950 2012 Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

PMID 16565076 2006 New insights into BS69 functions.

PMID 24590075 2014 ZMYND11 links histone H3.3K36me3 to transcription elongation and tumour suppression.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

rs1350201776 in ZNF335 gene and Muscle hypotonia

PMID 27540107 2016 Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report.

PMID 19131338 2009 Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 23178126 2012 Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs587777695 in ZSWIM6 gene and Muscle hypotonia

PMID 25105228 2014 Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.

PMID 29198722 2017 A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

PMID 26706854 2016 Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.