Term Name: | hereditary spastic paraplegia 83 |
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Synonyms: | spastic paraplegia 83 autosomal recessive, SPG83 |
Definition: | A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. |
Ontology: | Human Disease [DOID:0112346] ( DOID:0112346 ) |