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Namespace Prefixes

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Statements

Subject Item
_:vb50940311
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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.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/23236289