606854.1.1

Jordan

Intellectual disability, severe; Cerebral atrophy; Hypotonia; EEG abnormality; Leukodystrophy

Male

Yes

Variant Name	Allele Count	Associated Disease
NM_201525.4:c.1952G>A	2	Polymicrogyria, Bilateral Frontoparietal

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
606854.1.2	Jordan	Intellectual disability, severe; Cerebral atrophy; Hypotonia; EEG abnormality; Leukodystrophy	Male	Yes	Yes	Relative of 606854.1.1