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spastic ataxia 3
Summary
- Definition
- A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.
- Super Class
- autosomal recessive disease spastic ataxia
External Links
- Disease Ontology
- DOID:0050942
- Mondo Disease Ontology
- OMIM
