autosomal recessive spinocerebellar ataxia 4

Summary

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: autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, SCAR4, SCASI, SCA24, spinocerebellar ataxia with saccadic intrusions, spinocerebellar ataxia 24

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

: vps13d

MIM:

MIM:607317 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4

MIM:607317 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4

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

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

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