Panel | Mode of inheritance | Details |
---|---|---|
1 panel | ||
R-numbers: R15 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyper-IgE syndrome, Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth, Combined immunodeficiencies with associated or syndromic features |