612918.1

United Arab Emirates

Macrocephaly; Abnormal facial shape; Nevus flammeus; Overgrowth

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006218.3:c.2740G>A	1		Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi

de novo mutation