Fanconi anemia, complementation group W
MONDO:0044325Mondo
Findings
No curated finding names Fanconi anemia, complementation group W yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
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.
- Absent thumbHPOHP:0009777
- 1 of 1 reported patient
- Chiari malformationHPOHP:0002308
- 1 of 1 reported patient
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 1 of 1 reported patient
- Duodenal atresiaHPOHP:0002247
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Hypoplasia of the radiusHPOHP:0002984
- 1 of 1 reported patient
- Megakaryocyte dysplasiaHPOHP:0031689
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- MyelodysplasiaHPOHP:0002863
- 1 of 1 reported patient
- PolyspleniaHPOHP:0001748
- 1 of 1 reported patient
- Radial ray deficiencyHPOHP:0006433
- 1 of 1 reported patient
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.
- RFWD3HGNC:25539
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of