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References OMIM Gene GeneReviews HGMD HGNC
last update : 10-01-2023
Symbol STHAP
Location 21q22.11
Name spastic tetraplegia and axial hypotonia, progressive
Corresponding gene SOD1
Main clinical features
  • neurologic disorder characterized by onset of severe and progressive motor dysfunction in the first year of life
  • severe axial hypotonia combined with spastic tetraplegia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement
  • variable cognitive development
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease