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DO Term : Cayman type cerebellar ataxia [DOID:0060694] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3.
  • synonyms:
  • OMIM:601238,
  • Cayman cerebellar ataxia,
  • ORDO:94122,
  • MESH:C563363,
  • ICD10CM:G11.0,
  • 601238
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