DNA ligase IV deficiency
Findings
No curated finding names DNA ligase IV deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0011686), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
48 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Acute lymphoblastic leukemiaHPOHP:0006721
- 1 of 1 reported patient
- AsthmaHPOHP:0002099
- 1 of 1 reported patient
- AstigmatismHPOHP:0000483
- 1 of 1 reported patient
- BrachycephalyHPOHP:0000248
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- Occasional (5% to 29% of cases)
Show the remaining 36
- Prominent noseHPOHP:0000448
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 1 of 1 reported patient
- Upslanted palpebral fissureHPOHP:0000582
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Wide nasal bridgeHPOHP:0000431
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Abnormality of chromosome stabilityHPOHP:0003220
- Very frequent (80% to 99% of cases)
- Bird-like faciesHPOHP:0000320
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LIG4HGNC:6601
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: DNA ligase IV deficiency
- Also called
- LIG4 syndromeligase 4 syndrome