236250.2.1

Egypt

Intellectual disability, severe; Microcephaly; EEG abnormality; Cerebral atrophy; Leukodystrophy; Abnormal optic nerve morphology

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005957.5:c.199C>T	2		Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
236250.2.2	Egypt	Intellectual disability, severe; Microcephaly; EEG abnormality; Cerebral atrophy; Leukodystrophy; Abnormal optic nerve morphology	Female	Yes	Yes	Relative of 236250.2.2