Cataract-ataxia-deafness syndrome

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Synonyms: Cataract-ataxia-hearing loss syndrome

A rare genetic disease characterized by mild intellectual deficit congenital cataract progressive sensorineural hearing impairment ataxia peripheral neuropathy and short stature. There have been no further descriptions in the literature since 1991.

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 May 2024

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Cataract-ataxia-deafness syndrome?

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Advocacy Organizations

National Ataxia Foundation

Ataxia is a rare neurological disease affecting tens of thousands of people in the US and many thousands more around the world. It is progressive, affecting a person’s ability to walk, talk, and use fine motor skills. The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure

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Clinical Trials

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