DNA ligase IV deficiency
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
MONDO:0018814
non-SCID combined immunodeficiency
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0017855
T-B- severe combined immunodeficiency
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
DNA ligase IV deficiency
exact
LIG4 syndrome
exact
ligase 4 syndrome
exact
SPCC1183.05c