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Metadata
ID DOID:0050882
Name spinocerebellar ataxia type 5
Definition An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has material basis in mutation in the SPTBN2 gene.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766, https://www.ncbi.nlm.nih.gov/pubmed/20368622
Xrefs

GARD:4953

OMIM:600224

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is_a autosomal dominant cerebellar ataxia

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