Version: 8.0.0
Date: Tue Jan 28 2025
hereditary spastic paraplegia 84
DOID:0112347
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

hereditary spastic paraplegia 84

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.
Synonyms
  • spastic paraplegia 84 autosomal recessive
  • SPG84
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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