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GENATLAS PHENOTYPE
last update : 29-08-2016
Symbol SPG63
Location 1p13.3
Name spastic paraplegia 63
Corresponding gene AMPD2
Main clinical features
  • delayed walking and a scissors gait, hypertonia, with abnormal gait; increased deep tendon reflexes and normal cognition
  • at brain MRI, periventricular deep white matter changes in the corpus callosum brain
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)