DNA ligase IV deficiency
DNA ligase IV deficiency
Definition
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).
Also known as DNA ligase IV deficiency, LIG4 syndrome, ligase 4 syndrome — per MONDO