311300.1

Lebanon

Prominent supraorbital ridges; High palate; Polydactyly; Hearing impairment; Abnormality of cardiovascular system morphology

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001110556.1:c.2411T>A	1		Otopalatodigital Syndrome, Type I

de novo mutation