Orphanet: Aniridia cerebellar ataxia intellectual disability syndrome

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.


  • 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

Article for general public

Additional information

Further information on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.