Disease ID | Source | Name | Description |
604326 | OMIM | Spinocerebellar ataxia 12 (SCA12) | Spinocerebellar ataxia is 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. SCA12 is an autosomal dominant cerebellar ataxia (ADCA). The disease is caused by variants affecting the gene represented in this entry. |