autosomal recessive spinocerebellar ataxia 14

Summary

DOID:0080058 - autosomal recessive spinocerebellar ataxia 14

Disease Ontology 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.

Synonyms: SCAR14

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sptbn2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014159 - autosomal recessive spinocerebellar ataxia 14

MONDO:0014159 - autosomal recessive spinocerebellar ataxia 14

MIM:

MIM:615386 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14

MIM:615386 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive cerebellar ataxia (is_a)