rs1057517686, ATAD3A

N. diseases: 7
Disease: Global developmental delay ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.710 GeneticVariation BEFREE We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.710 GeneticVariation CLINVAR We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307 2016