LIG1

PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined immunodeficiencies with associated or syndromic features, Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity, DNA-ligase 1 ATP-dependent deficiency (LIG1), DNA ligase I deficiency