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DOID:0111611 - autosomal recessive spinocerebellar ataxia 4
Disease Ontology Definition:An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21.
Synonyms: SCA24, SCAR4, SCASI, autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, spinocerebellar ataxia 24, spinocerebellar ataxia with saccadic intrusions,
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive cerebellar ataxia (is_a)