| Disease ID | Source | Name | Description |
| 618369 | OMIM | Spinocerebellar ataxia, autosomal recessive, 27 (SCAR27) | 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. SCAR27 is a progressive disease characterized by gait difficulties, eye movement abnormalities, dysarthria, and difficulty writing. Some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. The disease is caused by variants affecting the gene represented in this entry. |