autosomal recessive spinocerebellar ataxia 14 (DOID:0080058)
Alliance: disease page
Synonyms: SCAR14
Alt IDs: OMIM:615386
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.