311200.2

Country

United Arab Emirates

HPO Terms

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

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Sex

Female

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003611.3:c.2757+1del	1		Orofaciodigital Syndrome I

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Remarks

Patient's parents are from the same tribe in UAE

References

Ben-Salem et al. 2015

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
311200.1	United Arab Emirates	Cleft palate; Lobulated tongue; Seizure; Hypoplasia of the corpus callosum	Female			Patient's parents are from the same tribe.