OBO ID: DOID:0111829
Term Name: X-linked spinocerebellar ataxia 1 Search Ontology:
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 X-linked spinocerebellar ataxia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP2B3 ?Spinocerebellar ataxia, X-linked 1 302500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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