X-linked spinocerebellar ataxia type 3
Synonyms: SCAX3 | X-linked ataxia-deafness syndrome | X-linked ataxia-hearing loss syndrome
X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia ataxia sensorineural deafness developmental delay esotropia and optic atrophy and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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X-linked spinocerebellar ataxia type 3?
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National Ataxia Foundation
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