Version: 8.0.0
Date: Tue Jan 28 2025
hereditary spastic paraplegia 81
DOID:0112349
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

hereditary spastic paraplegia 81

Definition
A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3.
Synonyms
  • autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
  • autosomal recessive complex SPG due to Kennedy pathway dysfunction
Cross References
Parent Terms
Child Terms
None
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