Term Name: | hereditary spastic paraplegia 84 |
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Synonyms: | spastic paraplegia 84 autosomal recessive, SPG84 |
Definition: | A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21. |
Ontology: | Human Disease [DOID:0112347] ( DOID:0112347 ) |