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autosomal recessive spinocerebellar ataxia 4
Summary
- Synonym
-
- SCA24
- SCAR4
- SCASI
- autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
- 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.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0111611
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
