Panel | Mode of inheritance | Details |
---|---|---|
1 panel | ||
R-numbers: R15 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Immunodeficiency 87 and autoimmunity, OMIM:619573, Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections |