Term Name:	autosomal recessive spinocerebellar ataxia 14
Synonyms:	SCAR14
Definition:	An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13.
Ontology:	Human Disease [DOID:0080058]   ( DOID:0080058 )