| Disease ID | Source | Name | Description |
| 612067 | OMIM | Dystonia 16 (DYT16) | An early-onset dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT16 patients have progressive, generalized dystonia with axial muscle involvement, oro-mandibular (sardonic smile) and laryngeal dystonia and, in some cases, parkinsonian features. The disease is caused by variants affecting the gene represented in this entry. |