OBO ID: DOID:0111833
Term Name: X-linked spinocerebellar ataxia 5 Search Ontology:
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 )
OTHER X-linked spinocerebellar ataxia 5 PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None