611432.1.2

Lebanon

Eczema; Otitis media; Increased circulating IgE level;

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_203447.3:c.1498C>T	2

First cousin of 611432.1.1. Diagnosed with IPEX-like disorder

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
611432.1.1	Lebanon	Eczema; Colitis; Increased circulating IgE level; Diarrhea;	Male	Yes	Yes	Diagnosed with IPEX-like disorder