Panel | Mode of inheritance | Details |
---|---|---|
1 panel | ||
R-numbers: R15 Signed-off version 6.0 | 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 |