Friedreich ataxia 1
MONDO:0100340Mondo
Findings
No curated finding names Friedreich ataxia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
2 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.
- Decreased amplitude of sensory action potentialsHPOHP:0007078
- Decreased sensory nerve conduction velocityHPOHP:0003448
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.
- FXNHGNC:3951
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: Friedreich ataxia 1
- Also called
- FRDA1Friedreich ataxia type 1