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GENATLAS PHENOTYPE
last update : 28-11-2009
Symbol WMSL
Location 15q26.3
Name Weill-Marchesani-like syndrome
Corresponding gene ADAMTS17
Main clinical features
  • characterized by short stature, brachydactyly, joint stiffness and eye abnormalities (ectopia lentis, glaucoma, microspherophakia)
  • associated to brachydactyly and decreased joint flexibility
  • Genetic determination autosomal recessive
    Function/system disorder eye
    osteo-articular
    Type disease
    Remark(s)