Panel | Mode of inheritance | Details |
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1 panel | ||
R-numbers: R15 Signed-off version 5.3 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Inflammatory bowel disease, Mucosal inflammation, Fever, Ulcers, Behcet-like disease, X-linked hypogammaglobulinemia with isolated growth hormone deficiency |