Term Name: X-linked spinocerebellar ataxia 1
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.
Ontology: Human Disease [DOID:0111829]   ( DOID:0111829 )

Relationships
is a type of: X-linked cerebellar ataxia X-linked recessive disease