_:vb50940311 . _:vb50940311 . _:vb50940311 "url:https://www.ncbi.nlm.nih.gov/pubmed/23236289"^^ . _:vb50940311 "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."^^ . _:vb50940311 . _:vb50940311 .