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Spinocerebellar ataxia-dysmorphism syndrome

Disease definition

Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G11.8
  • OMIM: 271270
  • UMLS: C1849088
  • MeSH: -
  • GARD: 4958
  • MedDRA: -
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