rs121908132, APTX

N. diseases: 4
Disease: Oculomotor apraxia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Oculomotor apraxia
CUI: C3489733
Disease: Oculomotor apraxia
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