| Disease ID | Source | Name | Description |
| 616719 | OMIM | Spinocerebellar ataxia, autosomal recessive, 21 (SCAR21) | 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. SCAR21 is characterized by cerebellar atrophy and ataxia with onset in early childhood. Patients also manifest recurrent episodes of liver failure, hepatic fibrosis and a peripheral neuropathy. The disease is caused by variants affecting the gene represented in this entry. |