Term Name: | X-linked spinocerebellar ataxia 3 |
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Synonyms: | SCAX3, X-linked ataxia-deafness syndrome, X-linked spinocerebellar ataxia type 3 |
Definition: | An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. |
Ontology: | Human Disease [DOID:0111831] ( DOID:0111831 ) |