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hereditary spastic paraplegia 80
Summary
- Synonym
-
- SPG80
- spastic paraplegia 80 autosomal dominant
- Definition
- A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3.
- Super Class
- autosomal dominant disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0112341
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
