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GENATLAS PHENOTYPE
last update : 17-11-2021
Symbol SPG83
Location 1p34.1
Name spastic paraplegia 83
Corresponding gene HPDL
Main clinical features
  • progressive lower limb spasticity resulting in gait instability; patients develop symptoms in the second decade, consistent with juvenile onset
  • also in any cases myalgia or mild dysarthria
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)