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spinocerebellar ataxia with epilepsy

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description An autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases.
Mondo Term and Equivalent IDs
MONDO:0016809:  spinocerebellar ataxia with epilepsy
Orphanet:254881: 
UMLS:C1843852: 
UMLS:CN202060: