rs121908132, APTX

N. diseases: 4
Disease: Apraxia, oculomotor, Cogan type ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Apraxia, oculomotor, Cogan type
CUI: C0543874
Disease: Apraxia, oculomotor, Cogan type
0.010 GeneticVariation BEFREE In conclusion, patients with early onset ataxia with ocular motor apraxia and hypoalbuminaemia homozygous for the c.689_690insT mutation show a more severe phenotype than those with a p.Pro206Leu or p.Val263Gly mutation. 21486904 2011