Human genes for autosomal recessive spinocerebellar ataxia 14
Autosomal recessive spinocerebellar ataxia 14 [DOID:0080058]
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.
Synonyms: autosomal recessive spinocerebellar ataxia 14, DOID:0080058