rs587779766 in AHDC1 gene and Poor school performance

PMID 24791903 2014 De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

rs1064795945 in ASPM gene and Poor school performance

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.

rs1555693714 in BPTF gene and Poor school performance

PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs786200962 in CACNA1A gene and Poor school performance

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

rs113331868 in CAMK2A gene and Poor school performance

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

rs1554385305 in CAMK2B gene and Poor school performance

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

rs1566446604 in CHD8 gene and Poor school performance

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

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

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

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

rs1555313219 in CHD8;SNORD9 gene and Poor school performance

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

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

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

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

rs587777161 in CLCN4 gene and Poor school performance

PMID 27550844 2018 De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

rs1555682265 in DCC gene and Poor school performance

PMID 28250456 2017 Biallelic mutations in human DCC cause developmental split-brain syndrome.

rs1057519565 in DEAF1 gene and Poor school performance

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

rs1555031372 in DPF2 gene and Poor school performance

PMID 29429572 2018 Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

rs797044519 in DYRK1A gene and Poor school performance

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs797044525 in DYRK1A;LOC105372797 gene and Poor school performance

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs1057519389 in EBF3 gene and Poor school performance

PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1555883505 in EEF1A2 gene and Poor school performance

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

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

PMID 23647072 2013 Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

rs1064795104 in EXOC6B gene and Poor school performance

PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.

rs558269137 in FLG;FLG-AS1 gene and Poor school performance

PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

rs1064793829 in GATAD2B gene and Poor school performance

PMID 28077840 2017 Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

rs869312821 in GNB1 gene and Poor school performance

PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs34002892 in GNPTAB gene and Poor school performance

PMID 20880125 2011 Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

PMID 16465621 2006 Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.

PMID 25606425 2014 Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.

rs797045141 in HERC1 gene and Poor school performance

PMID 27108999 2016 A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.

rs776679653 in ISCA1 gene and Poor school performance

PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

rs786200952 in KAT6A gene and Poor school performance

PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs749205120 in KCNQ3 gene and Poor school performance

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.

rs1064796738 in KIF11 gene and Poor school performance

PMID 25115524 2014 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.

PMID 25124931 2014 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

rs724159949 in LOC105372797;DYRK1A gene and Poor school performance

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs876661308 in MEF2C gene and Poor school performance

PMID 27255693 2016 MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

rs527656756 in MTA3;HAAO gene and Poor school performance

PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs765211108 in NGLY1 gene and Poor school performance

PMID 25220016 2015 NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

rs1553794304 in PIGX;CEP19 gene and Poor school performance

PMID 29127258 2018 Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

rs1057515572 in PMS2 gene and Poor school performance

PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

rs1563686762 in RAD21;UTP23 gene and Poor school performance

PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1567499068 in SCAPER gene and Poor school performance

PMID 30723319 2019 SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

rs1567368243 in SIN3A gene and Poor school performance

PMID 30267900 2019 Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.

rs864309676 in STX7 gene and Poor school performance

PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

rs752298579 in TANGO2 gene and Poor school performance

PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

rs201257588 in TBC1D24 gene and Poor school performance

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

rs267607116 in TMEM67 gene and Poor school performance

PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

rs1555582065 in UBTF;LOC101926967 gene and Poor school performance

PMID 29300972 2018 A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

rs1562159088 in WASF1 gene and Poor school performance

PMID 29961568 2018 De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

rs864309661 in WDR45 gene and Poor school performance

PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

rs1447313633 in ZNF142 gene and Poor school performance

PMID 31036918 2019 Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.