604391.G.1

Saudi Arabia

Ataxia; Oculomotor apraxia

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005591.4:c.630G>C	20	NA	Ataxia-Telangiectasia-Like Disorder 1

10 patients (3 males; 7 females) from three unrelated families.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
604391.G.2	Saudi Arabia					Two out of 428 phenotypically normal individuals (312 males; 116 females).