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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.

ORPHA:1185

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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