X-linked spinocerebellar ataxia 1

Term ID

DOID:0111829

Synonyms

• SCAX1
• X-linked progressive cerebellar ataxia

Definition

An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. (2)

References

• OMIM:302500
• ORDO:1175

Ontology

Human Disease   ( DOID:0111829 )