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| Term | X-linked spinocerebellar ataxia 3 | ID (Ontology) | DOID:0111831 (Human Disease) |
| 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. | ||
| Also Known As | "SCAX3" ; "X-linked ataxia-deafness syndrome" ; "X-linked spinocerebellar ataxia type 3" | ||
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X-linked hereditary ataxia |__X-linked cerebellar ataxia |__X-linked spinocerebellar ataxia 3 |
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| Is a | X-linked cerebellar ataxia | ||
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External Crossreferences & Linkouts
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GARD:9981 MESH:C537315 MIM:301790 ORDO:85297 SNOMEDCT_US_2021_09_01:719817002 |
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