Term Name: | hereditary spastic paraplegia 78 |
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Synonyms: | spastic paraplegia 78 autosomal recessive, SPG78 |
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. |
Ontology: | Human Disease [DOID:0112348] ( DOID:0112348 ) |