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Human Disease

autosomal recessive spinocerebellar ataxia 14

Term ID
DOID:0080058
Synonyms
  • SCAR14
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
References
Ontology
Human Disease   ( DOID:0080058 )
Relationships
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Genes Involved
Zebrafish Models