213700.3.2

Egypt

Intellectual disability, severe; Abnormality of the face; Leukodystrophy

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000784.4:c.1420C>T	2		Cerebrotendinous Xanthomatosis

Relative of 213700.3.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
213700.3.1	Egypt	Intellectual disability, severe; Abnormality of the face; Leukodystrophy	Male	Yes	Yes