| Disease ID | Source | Name | Description |
| 618868 | OMIM | Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline (CONATOC) | An autosomal recessive neurodegenerative disease characterized by progressive ataxia, tremor, cognitive decline, dysphagia, optic atrophy, dysarthria, as well as urinary and bowel incontinence. Brain MRI demonstrates cerebellar atrophy and leukoencephalopathy. The disease is caused by variants affecting the gene represented in this entry. |