Term Name: hereditary spastic paraplegia 84
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 )

Relationships
is a type of: autosomal recessive disease hereditary spastic paraplegia