300853.1

United Arab Emirates

Intellectual disability; Recurrent infections; Constipation; Increased susceptibility to fractures; Abnormal facial shape

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NC_000023.11:g.76992100_77014098dup	1		Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia

Father has recurrent skin infections