Ataxia-deafness-intellectual disability syndrome

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Ataxia-deafness-intellectual disability syndrome

Synonyms: Ataxia-hearing loss-intellectual disability syndrome | Reardon-Baraitser syndrome

A rare genetic syndromic intellectual disability characterized by global developmental delay intellectual disability infantile or childhood onset of progressive ataxia and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease peripheral neuropathy myopathic facies lower limb muscle wasting and heel contractures. There have been no further descriptions in the literature since 1993.

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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