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Aniridia-cerebellar ataxia-intellectual disability syndrome

Disease definition

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ORPHA:1065

  • Synonym(s):
    • Gillespie syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Autosomal dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G11.0
  • OMIM: 206700
  • UMLS: C0431401
  • MeSH: -
  • GARD: 13
  • MedDRA: -

Detailed information

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Additional information

Further information on this disease

Specialised Social Services

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