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References OMIM Gene GeneReviews HGMD HGNC
last update : 23-01-2009
Symbol EDS2
Location 9q34.3
Name Ehlers-Danlos syndrome, type II
Other name(s)
  • Ehlers-Danlos syndrome, mitis type
  • Ehlers-Danlos syndrome, mild classical type
  • Corresponding gene COL5A1 , COL5A2
    Other symbol(s) EDSII
    Main clinical features
  • characterized by joint hyperextensibility, joint hypermobility, widened atrophic scars, velvety skin and mild propensity for bruising, abnormally thin and steep corneas with floppy eyelids
  • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name collagen type V, alpha 1 (COL5A1) or alpha 2 (COL5A2)