Disease - Spinocerebellar ataxia, autosomal recessive, 25
- DefinitionA 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. SCAR25 patients manifest delayed psychomotor development with delayed walking, truncal ataxia, dysmetria, and nystagmus, Cerebellar hypoplasia is seen on brain imaging.
- AcronymSCAR25
- Keywords
- Cross references
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Browse 1 entry- Autophagy protein 5 · Gene: ATG5 (APG5L, ASP) · Homo sapiens (Human) · 275 amino acids · Evidence at protein level · Annotation score: 5/5