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Metadata
ID	DOID:0080058
Name	autosomal recessive spinocerebellar ataxia 14
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. https://www.ncbi.nlm.nih.gov/pubmed/23236289
Xrefs	OMIM:615386
Synonyms	SCAR14 [EXACT]
Parent Relationships	is_a autosomal recessive cerebellar ataxia