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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-05-2017
Symbol SPG81
Location 9p13.2
Name spastic paraplegia 81
Corresponding gene EXOSC3
Main clinical features
  • delayed motor milestones, early-onset spastic paraplegia, variable cognitive disability, and cerebellar signs
  • cerebral imaging demonstrated enlarged cisterna magna and mild hypoplasia and atrophy of the lower vermis with a normal pons
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease