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About: autosomal recessive spinocerebellar ataxia 20     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
subClassOf
label
  • autosomal recessive spinocerebellar ataxia 20
described by
id
  • DOID:0080066
created_by
  • lschriml
creation_date
  • 2015-10-07T14:55:44Z
database_cross_reference
  • OMIM:616354
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14.
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