Version: 8.0.0
Date: Tue Jan 28 2025
hereditary spastic paraplegia 82
DOID:0112343
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

hereditary spastic paraplegia 82

Definition
A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.
Synonyms
  • spastic paraplegia 82 autosomal recessive
  • SPG82
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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