601559.G.1

United Arab Emirates

Micromelia; Bowing of the long bones; Talipes; Camptodactyly; Oligohydramnios; Intrauterine growth retardation;

Unknown

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001127671.2:c.653dup	20		Stuve-Wiedemann Syndrome

10 patients; 6 pre-natal diagnoses