Search Ontology:
Human Disease

X-linked spinocerebellar ataxia 1

Term ID
DOID:0111829
Synonyms
  • SCAX1
  • X-linked progressive cerebellar ataxia
Definition
An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. (2)
References
Ontology
Human Disease   ( DOID:0111829 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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