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Spinocerebellar degeneration-corneal dystrophy syndrome

Disease definition

Corneal cerebellar syndrome is characterised by the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of whom had only minor spinocerebellar signs without ocular involvement.

ORPHA:3177

  • Synonym(s):
    • Der Kaloustian-Jarudi-Khoury syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G11.1
  • OMIM: 271310
  • UMLS: C1849087
  • MeSH: C535472
  • GARD: 1525
  • MedDRA: -

Additional information

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