Fanconi anemia complementation group Q
Findings
No curated finding names Fanconi anemia complementation group Q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014108), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 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.
- Bone marrow hypocellularityHPOHP:0005528
- 2 of 2 reported patients
- Chromosome breakageHPOHP:0040012
- 2 of 2 reported patients
- Growth delayHPOHP:0001510
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Absent thumbHPOHP:0009777
- 1 of 2 reported patients
- Anteriorly placed anusHPOHP:0001545
- 1 of 2 reported patients
- Biliary atresiaHPOHP:0005912
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.
- ERCC4HGNC:3436
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
8 names
Resolves to: Fanconi anemia complementation group Q
- Also called
- ERCC4 Fanconi anaemiaERCC4 Fanconi anemiaFanconi anaemia caused by mutation in ERCC4Fanconi anaemia complementation group type QFanconi anemia caused by mutation in ERCC4Fanconi anemia complementation group type QFanconi Anemia, complementation group type QFANCQ