Panel | Mode of inheritance | Details |
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1 panel | ||
R-numbers: R15 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyper-IgE recurrent infection syndrome 4, autosomal recessive 618523, Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response., Hyper-IgE syndrome, autosomal dominant |