Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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

Remark(s)