605130.4

Saudi Arabia

Skeletal dysplasia; Rib fusion; Abnormal ear morphology; Cleft palate; Aplasia of the uterus; Choanal atresia

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001197104.2:c.3248G>A	1		Wiedemann-Steiner Syndrome