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.