Cataract-ataxia-deafness syndrome
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 April 2024
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Clinical Trials
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