Search Ontology:
Human Disease
X-linked spinocerebellar ataxia 3
- Term ID
- DOID:0111831
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/3614654
- References
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- GARD:9981
- MESH:C537315
- MIM:301790
- ORDO:85297
- SNOMEDCT_US_2021_09_01:719817002
- Ontology
- Human Disease ( DOID:0111831 )
- is a type of
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Genes Involved
Zebrafish Models