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LIG4 syndrome

Disease Export to PDF
Name:
LIG4 syndrome
Description:
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).
ORPHAcode:
99812
Synonyms:
DNA ligase IV deficiency
Ligase 4 syndrome
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
XRCC4
LIG4
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14