Condition: Generalized hypotonia


rs121434578 in ABAT gene and Generalized hypotonia PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

rs1057516032 in ATP1A3 gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs867410737 in ATP5F1D gene and Generalized hypotonia PMID 29478781 2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

rs184953805 in ATRIP;TREX1;ATRIP-TREX1 gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1135401778 in BPTF gene and Generalized hypotonia PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs779027563 in CNTNAP1 gene and Generalized hypotonia PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs137854544 in CTSA gene and Generalized hypotonia PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.

PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.

rs1057524157 in DEAF1 gene and Generalized hypotonia PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

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

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

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

rs1057519389 in EBF3 gene and Generalized hypotonia PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs767961672 in FOXG1 gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1553654413 in ITPR1 gene and Generalized hypotonia PMID 29663667 2018 A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

rs1057516033 in KAT6B gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs672601368 in KIF1A gene and Generalized hypotonia PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs1034395178 in LZTR1 gene and Generalized hypotonia PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1057519566 in MDH2 gene and Generalized hypotonia PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

rs114638163 in MIPEP gene and Generalized hypotonia PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs1057516031 in MTM1 gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs587777893 in MTOR gene and Generalized hypotonia PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs1057516040 in NALCN gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs386834034 in POMGNT1;TSPAN1 gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs145999922 in SLC19A3 gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1561498701 in SMN1;SMN2 gene and Generalized hypotonia PMID 24498607 2013 A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.

PMID 17761649 2007 Spinal muscular atrophy diagnostics.

rs372949028 in TANGO2 gene and Generalized hypotonia PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

rs724159991 in TMEM186;ABAT gene and Generalized hypotonia PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs777593389 in VPS13B gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.