Disease ID | Source | Name | Description |
617054 | OMIM | Striatonigral degeneration, childhood-onset (SNDC) | An autosomal recessive neurological disorder characterized by sudden childhood onset of developmental regression. Affected children develop impaired movements with dystonia, progressively become non-ambulatory and non-verbal, and exhibit striatal abnormalities on MRI. The disease is caused by variants affecting the gene represented in this entry. |