Search Ontology:
Human Disease

X-linked spinocerebellar ataxia 5

Term ID
DOID:0111833
Synonyms
  • SCAX5
  • Spinocerebellar Ataxia, X-Linked 5
  • X-linked non progressive cerebellar ataxia
Definition
An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. https://www.ncbi.nlm.nih.gov/pubmed/18241076
References
Ontology
Human Disease   ( DOID:0111833 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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