Panel | Mode of inheritance | Details |
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1 panel | ||
R-numbers: R15 Signed-off version 6.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections, OMIM:618282, Hyper-IgE syndrome, Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth, Combined immunodeficiencies with associated or syndromic features |