601559.G.2

Oman; United Arab Emirates; Yemen

Bowing of the long bones; Flared lower limb metaphysis; Feeding difficulties; Respiratory distress

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001127671.2:c.653dup	2		Stuve-Wiedemann Syndrome

50 patients from 28 Emirati families belonging to two tribes; one originally from Yemen, the other from Oman