Preferred Label : DNA-ligase IV deficiency;
ICD-11 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).;
ICD-11 synonym : Ligase 4 syndrome; LIG4 deficiency;
Origin ID : 969767034;
Currated CISMeF NLP mapping
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).
