Disease ID | Source | Name | Description |
615705 | OMIM | Spinocerebellar ataxia, autosomal recessive, 15 (SCAR15) | 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. SCAR15 patients manifest cerebellar ataxia in early childhood and delayed motor development with delayed walking. Additional features include dysarthria, upper limb involvement, abnormal eye movements, and hyporeflexia. The disease is caused by variants affecting the gene represented in this entry. |