| Disease ID | Source | Name | Description |
| 617931 | OMIM | Spinocerebellar ataxia 47 (SCA47) | A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA47 is an autosomal dominant disease with a highly variable phenotype and incomplete penetrance. Clinical features include developmental disability, ataxia, and seizures. The disease is caused by variants affecting the gene represented in this entry. |