FLVCR1-related retinopathy with or without ataxia
MONDO:0100449Mondo
Findings
No curated finding names FLVCR1-related retinopathy with or without ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.
Definition from the Mondo Disease Ontology (MONDO:0100449), read 2026-09-29. CC BY 4.0.
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.
- FLVCR1HGNC:24682
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: FLVCR1-related retinopathy with or without ataxia
- Also called
- FLVCR1 retinopathy with or without ataxia