PRKDC

protein kinase, DNA-activated, catalytic polypeptide
OMIM: 600899
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 26, with or without neurologic abnormalities, Immunodeficiency, with or without neurologic abnormalities, DNA Pkcs deficiency, Combined immunodeficiency, Severe combined immunodeficiency (SCID), Nl NK, radiation sensitive, microcephaly, Immunodeficiencies affecting cellular and humoral immunity