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 April 2026
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Ataxia-deafness-intellectual disability syndrome?
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Advocacy Organizations
Ataxia and me
To relieve the needs of sufferers of Ataxia or other neurological disorders, their families and carers for the public benefit by providing patient led support and by raising awareness of such conditions."
National Ataxia Foundation
To accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.