130650.1

United Arab Emirates

Omphalocele; Midface retrusion; Infra-orbital crease; Nevus flammeus; Macroglossia; Posterior helix pit; Bilateral cryptorchidism

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001122630.2:c.670C>T	1		Beckwith-Wiedemann Syndrome