| Disease ID | Source | Name | Description |
| 617284 | OMIM | Dystonia 28, childhood-onset (DYT28) | A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. The disease is caused by variants affecting the gene represented in this entry. |