# spinocerebellar ataxia type 5

> autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has material basis in mutation in the SPTBN2 gene

**Wikidata**: [Q18553532](https://www.wikidata.org/wiki/Q18553532)  
**Source**: https://4ort.xyz/entity/spinocerebellar-ataxia-type-5


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Spectrin mutations cause spinocerebellar ataxia type 5.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000173898/MONDO_0010848)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)