| Disease ID | Source | Name | Description |
| 302500 | OMIM | Spinocerebellar ataxia, X-linked 1 (SCAX1) | 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. SCAX1 is characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia. The disease is caused by variants affecting the gene represented in this entry. |