311200.1

Saudi Arabia

Cleft palate; Lobulated tongue; Seizure; Hypoplasia of the corpus callosum

Female

Variant Name	Allele Count	Associated Disease
NM_003611.3:c.1193_1196del	1	Orofaciodigital Syndrome I

Patient's parents are from the same tribe.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
311200.2	Saudi Arabia	Partial agenesis of the corpus callosum; Cerebellar vermis hypoplasia; Hypertelorism; Tented upper lip vermilion; Thin upper lip vermilion; Bifid tongue; Lobulated tongue; Median cleft palate; Hypotonia; Persistent head lag	Female	No	No	Patient's parents are from the same tribe in UAE