# torsion dystonia 6

> characterized by autosomal dominant inheritance of early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has material basis in heterozygous mutation in the THAP1 gene on chromosome 8p11

**Wikidata**: [Q32038792](https://www.wikidata.org/wiki/Q32038792)  
**Source**: https://4ort.xyz/entity/torsion-dystonia-6


## References

1. Disease Ontology
2. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000131931/Orphanet_98806)
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. UMLS 2023