# autosomal recessive dopa-responsive dystonia

> Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy

**Wikidata**: [Q55783410](https://www.wikidata.org/wiki/Q55783410)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-dopa-responsive-dystonia


## References

1. Monarch Disease Ontology release 2018-06-29
2. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000180176/MONDO_0011551)
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000180176/Orphanet_101150)
5. UMLS 2023