Fanconi anemia complementation group B
Findings
No curated finding names Fanconi anemia complementation group B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.
Definition from the Mondo Disease Ontology (MONDO:0010351), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
30 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.
- Abnormality of chromosome stabilityHPOHP:0003220
- 3 of 3 reported patients
- Growth delayHPOHP:0001510
- 6 of 6 reported patients
- HypogonadismHPOHP:0000135
- 4 of 4 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 4 of 4 reported patients · Fetal onset
- VentriculomegalyHPOHP:0002119
- 6 of 6 reported patients
- Absent thumbHPOHP:0009777
- 5 of 6 reported patients
- Bilateral radial aplasiaHPO
Show the remaining 18
- Duodenal atresiaHPOHP:0002247
- 2 of 6 reported patients
- HydrocephalusHPOHP:0000238
- 2 of 6 reported patients
- MicropenisHPOHP:0000054
- 2 of 6 reported patients
- Optic disc hypoplasiaHPOHP:0007766
- 2 of 6 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 2 of 6 reported patients
- Short neckHPOHP:0000470
- 2 of 6 reported patients
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.
- FANCBHGNC:3583
- Definitive · ClinGen · X-linked · 2022
- Definitive · G2P · X-linked · 2024
- Definitive · Natera · X-linked recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
7 names
Resolves to: Fanconi anemia complementation group B
- Also called
- FA2FACBFANCBFanconi anaemia complementation group type BFanconi anemia complementation group type BFanconi anemia, complementation group B, X-linked recessiveFanconi Anemia, complementation group type B