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DNA ligase IV deficiency
rareLIG4 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).
- Identifiers
- MONDO:0011686 OMIM:606593Orphanet:99812
- Causal genes
- LIG4
- Part of
- T-B- severe combined immunodeficiencyDisorder of development or morphogenesisSyndromic disease
- Also known as
- LIG4 syndrome · ligase 4 syndrome
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