| Disease ID | Source | Name | Description |
| 616354 | OMIM | Spinocerebellar ataxia, autosomal recessive, 20 (SCAR20) | A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry. |