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

• MIM:615386

Ontology

Human Disease   ( DOID:0080058 )