Disease ID | Source | Name | Description |
618800 | OMIM | Spinocerebellar ataxia, autosomal recessive, 28 (SCAR28) | 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. SCAR28 patients manifest mild motor developmental delay, gait ataxia, and dysarthria. Some patients show mildly impaired intellectual development. Disease onset is in early childhood. The disease is caused by variants affecting the gene represented in this entry. |