Term Name: X-linked spinocerebellar ataxia 3
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.
Ontology: Human Disease [DOID:0111831]   ( DOID:0111831 )

Relationships
is a type of: X-linked cerebellar ataxia