Disease ID | Source | Name | Description |
616949 | OMIM | Spinocerebellar ataxia, autosomal recessive, 23 (SCAR23) | 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. SCAR23 patients manifest epilepsy, intellectual disability, and gait ataxia. The disease is caused by variants affecting the gene represented in this entry. |