277170.1.1

Country

Iraq

HPO Terms

Cleft lip; Abnormal oral frenulum morphology; Hamartoma of tongue; Abnormal facial shape; Brachydactyly; Syndactyly; Hypothalamic hamartoma; Agenesis of corpus callosum; Enlarged cisterna magna; Cubitus valgus; Short stature; Molar tooth sign on MRI

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001384732.1:c.3150-1G>T			Orofaciodigital Syndrome VI

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References

Bruel et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
277170.1.2	Iraq	Cleft lip; Abnormal oral frenulum morphology; Hamartoma of tongue; Abnormal facial shape; Brachydactyly; Syndactyly; Short stature; Molar tooth sign on MRI; Seizure; Microcephaly; Bifid tongue	Female	Yes	Yes	Relative of 277170.1.1