NHEJ1

non-homologous end joining factor 1
OMIM: 611290
PanelMode of inheritanceDetails
3 panels
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291, T-B- SCID, T-B+ SCID, Combined immunodeficiency, Cernunnos/XLF deficiency, Nl NK, radiation sensitive, microcephaly, Immunodeficiencies affecting cellular and humoral immunity
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291