Catalog

DNA-ligase IV deficiency

No MMS code

Link to WHO Definition

DNA-ligase IV deficiency – http://id.who.int/icd/entity/969767034

LIG4 syndrome is a hereditary disorder associated with impaired DNA double strand break repair mechanisms and characterised by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).