Panel | Mode of inheritance | Details |
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1 panel | ||
R-numbers: R15 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Immunodeficiency 54, 609981, Natural killer cell and glucocorticoid deficiency with DNA repair defect, Predisposition to several viral infection, MCM4 deficiency, NK cells: low number and function. Viral infections (EBV, HSV, VZV), short stature, B cell lymphoma, adrenal failure, Combined immunodeficiencies with associated or syndromic features |