X-linked spinocerebellar ataxia 3

Term ID

DOID:0111831

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. https://www.ncbi.nlm.nih.gov/pubmed/3614654

References

• GARD:9981
• MESH:C537315
• MIM:301790
• ORDO:85297
• SNOMEDCT_US_2021_09_01:719817002

Ontology

Human Disease   ( DOID:0111831 )