Description of the disease * EnglishPolish Pobierz sekcję do PDF 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). Disease data Classification Disease Synonyms DNA ligase IV deficiency Niedobór ligazy DNA IV Zespół ligazy 4 Ligase 4 syndrome ORPHA code 99812 OMIM code 606593 ICD10 code D81.1 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl