615948.1.1

Country

Lebanon

HPO Terms

Microcephaly; Abnormal facial shape; Bifid tongue; Lobulated tongue; Hamartoma of tongue; Cleft palate; Aplasia of the epiglottis; Supernumerary tooth; Postaxial hand polydactyly; Broad hallux; Retinopathy; Intellectual disability; Micropenis; Cerebellar vermis hypoplasia

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001286577.1:c.184C>T	2		Orofaciodigital Syndrome XIV

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Remarks

Proband

References

Thauvin-Robinet et al, 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615948.1.2	Lebanon	Microcephaly; Abnormal facial shape; Abnormality of the cardiovascular system; Death in infancy	Female	Yes	Yes	Sister of 615948.1.1
615948.1.3	Lebanon		Male	Yes		Father of 615948.1.1
615948.1.4	Lebanon		Male	Yes		Mother of 615948.1.1