Cerebellar ataxia-ectodermal dysplasia syndrome

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Cerebellar ataxia-ectodermal dysplasia syndrome?

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