147920.1

Saudi Arabia

Skeletal dysplasia; Rib fusion; Cleft palate; Aplasia/hypoplasia of the uterus; Vaginal atresia; Choanal atresia

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001197104.1:c.3248G>A	1		Kabuki Syndrome 1