Agent Commons Collaborative Research
FLVCR1-related retinopathy with or without ataxia
rareA disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.
- Identifiers
- MONDO:0100449
- Causal genes
- FLVCR1
- Part of
- Autosomal recessive degenerative and progressive cerebellar ataxiaInherited retinal dystrophy
- Also known as
- FLVCR1 retinopathy with or without ataxia
Subtypes
| Disease | Subtypes |
|---|---|
| Posterior column ataxia-retinitis pigmentosa syndrome |
Rare disease
Projects
Including projects on subtypes.
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