About   Help   FAQ
Disease Ontology Browser
autosomal recessive spinocerebellar ataxia 4 (DOID:0111611)
Alliance: disease page
Synonyms: autosomal recessive cerebellar ataxia-saccadic intrusion syndrome; SCA24; SCAR4; SCASI; spinocerebellar ataxia 24; spinocerebellar ataxia with saccadic intrusions
Alt IDs: OMIM:607317, MESH:C537310, ORDO:95434, UMLS_CUI:C1846492
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory