Panel | Mode of inheritance | Details |
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1 panel | ||
R-numbers: R15 Signed-off version 6.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Early-onset inflammatory bowel disease, Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome, Inflammatory bowel disease (IBD) Folliculitis, recurrent respiratory diseases, arthritis,, Diseases of Immune Dysregulation |