Orphanet: Spinocerebellar ataxia dysmorphism syndrome
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Spinocerebellar ataxia-dysmorphism syndrome

Disease definition

A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.

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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