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Cerebellar ataxia-ectodermal dysplasia syndrome

What is Cerebellar ataxia-ectodermal dysplasia syndrome?

A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.

Inheritance type

Autosomal recessive

Age of Onset

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