272750.3.G.1

Saudi Arabia

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000405.5:c.164C>T

Father, mother, 2 sisters and a brother of 272750.3.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
272750.3.G.2	Saudi Arabia	Psychomotor deterioration; Neurodegeneration		Yes	Yes	Extended multiplex family with several affected members