| Disease ID | Source | Name | Description |
| 617282 | OMIM | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) | An autosomal recessive neurologic disorder characterized by childhood-onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation. The disease is caused by variants affecting the gene represented in this entry. |