# Arts syndrome

> Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy

**Wikidata**: [Q11852863](https://www.wikidata.org/wiki/Q11852863)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Arts_syndrome)  
**Source**: https://4ort.xyz/entity/arts-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Arts syndrome is caused by loss-of-function mutations in PRPS1
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000147224/MONDO_0010533)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)