Panel | Mode of inheritance | Details |
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1 panel | ||
R-numbers: R15 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759, ALPS-like disease, functional hyposplenism, invasive pneumococcal disease, para-infectious encephalopathy and hepatopathy, cardiovascular malformations, Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction, Diseases of Immune Dysregulation |