rs386833583, GLDC

N. diseases: 3
Disease: Choreoathetosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Choreoathetosis
CUI: C0085583
Disease: Choreoathetosis
0.010 GeneticVariation BEFREE A 9-year-old boy with learning disability and intermittent choreoathetosis during febrile illnesses had elevated plasma glycine level and CSF/plasma glycine ratio (0.044) and a novel homozygous missense mutation (c.605C>T; p.Ala202Val) in the GLDC gene, confirming the diagnosis of NKH. 21411353 2011