123790.1

Saudi Arabia

Abnormality of the face; Caudal appendage; Syndactyly; Natal tooth; Choanal atresia

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000141.5:c.870G>C	1	NA	Beare-Stevenson Cutis Gyrata Syndrome

De novo mutation