# developmental malformations-deafness-dystonia syndrome

> Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome

**Wikidata**: [Q55783500](https://www.wikidata.org/wiki/Q55783500)  
**Source**: https://4ort.xyz/entity/developmental-malformations-deafness-dystonia-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000075624/MONDO_0011823)
5. UMLS 2023