612782.1.1

United Arab Emirates

History of congenital CMV infection; Hypotonia; History of bone marrow transplant

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_032790.3:c.493dup	2		Immunodeficiency 9

The patient also had two deceased siblings and a deceased cousin with a history of recurrent infections and hypotonia.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
612782.1.2	United Arab Emirates	Hypotonia; Recurrent infections; History of bone marrow transplant	Female	Yes	Yes	Sister of 612782.1.1
612782.1.G.1	United Arab Emirates					Group of unaffected relatives of 612782.1.1 which includes his parents and sibling as well as the parents of his affected deceased cousin.