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Aniridia-cerebellar ataxia-intellectual disability syndrome

What is Aniridia-cerebellar ataxia-intellectual disability syndrome?

A rare genetic developmental and neurological disorder characterized by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia.

Other condition names

  • Gillespie syndrome

Inheritance type

Autosomal dominant, Autosomal recessive, Not applicable

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.