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Human Disease

X-linked spinocerebellar ataxia 3

Term ID
DOID:0111831
Synonyms
  • SCAX3
  • X-linked ataxia-deafness syndrome
  • X-linked spinocerebellar ataxia type 3
Definition
An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. https://www.ncbi.nlm.nih.gov/pubmed/3614654
References
Ontology
Human Disease   ( DOID:0111831 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations