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

No

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_003611.3:c.2757+1del1

Remarks

Patient's parents are from the same tribe in UAE

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
311200.1United Arab EmiratesCleft palate; Lobulated tongue; Seizure; Hypoplasia of the corpus callosumFemalePatient's parents are from the same tribe.
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