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.