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Human Disease

spinocerebellar ataxia type 28

Term ID
DOID:0050977
Synonyms
Definition
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28
References
Ontology
Human Disease   ( DOID:0050977 )
Relationships
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Genes Involved
Zebrafish Models