X-linked spinocerebellar ataxia 5

Term ID

DOID:0111833

Synonyms

• SCAX5
• Spinocerebellar Ataxia, X-Linked 5
• X-linked non progressive cerebellar ataxia

Definition

An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. https://www.ncbi.nlm.nih.gov/pubmed/18241076

References

• MESH:C567478
• OMIM:300703
• ORDO:314978
• UMLS_CUI:C2678048

Ontology

Human Disease   ( DOID:0111833 )