604391.G.2

Saudi Arabia

Back to search Result

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005591.4:c.630G>C	2	0.005

Two out of 428 phenotypically normal individuals (312 males; 116 females).

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
604391.G.1	Saudi Arabia	Ataxia; Oculomotor apraxia		Yes	Yes	10 patients (3 males; 7 females) from three unrelated families.

Back to search Result