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hereditary spastic paraplegia 78
Summary
- Synonym
-
- SPG78
- spastic paraplegia 78 autosomal recessive
- Definition
- A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0112348
- Mondo Disease Ontology
- ORDO
- OMIM
