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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)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory