Term Name: | autosomal recessive spinocerebellar ataxia 4 |
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Synonyms: | autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, SCA24, SCAR4, SCASI, spinocerebellar ataxia 24, spinocerebellar ataxia with saccadic intrusions |
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. |
Ontology: | Human Disease [DOID:0111611] ( DOID:0111611 ) |