125310.3

United Arab Emirates

Global developmental delay; Recurrent cerebral hemorrhage; Delayed speech and language development; Leukodystrophy

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000435.3:c.4581_4594del	2		Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy

Similarly affected cousins

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
125310.2	United Arab Emirates	Global developmental delay; Hypotonia; Abnormal facial shape; Seizure; Gait ataxia; Cerebellar hypoplasia	Female	No	Yes	De novo mutation