# deafness dystonia syndrome

> mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems

**Wikidata**: [Q3508677](https://www.wikidata.org/wiki/Q3508677)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Mohr–Tranebjærg_syndrome)  
**Source**: https://4ort.xyz/entity/deafness-dystonia-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/a21d3842-b39e-4f98-860a-61a9aa4e2d2b--2017-12-19T05:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a21d3842-b39e-4f98-860a-61a9aa4e2d2b-2017-12-19T050000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000126953/Orphanet_52368)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)