Fanconi anemia, complementation group S
MONDO:0054748Mondo
Findings
No curated finding names Fanconi anemia, complementation group S yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 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.
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Low anterior hairlineHPOHP:0000294
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Ovarian carcinomaHPOHP:0025318
- 1 of 1 reported patient
- Prominent nasal bridgeHPOHP:0000426
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Underdeveloped nasal alaeHPOHP:0000430
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 0 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.
- BRCA1HGNC:1100
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
- A kind of