Panel | Mode of inheritance | Details |
---|---|---|
1 panel | ||
R-numbers: R15 Signed-off version 6.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia, Predominantly Antibody Deficiencies, B cell deficiency, Agammaglobulinemia |