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References OMIM Gene GeneReviews HGMD HGNC
last update : 21-09-2015
Symbol WMS3
Location 14q24.3
Name Weill-Marchesani syndrome 3
Corresponding gene LTBP2
Main clinical features
  • rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and megalocornea and microspherophakia with early ectopia lentis probably secondary to the small round lens appears to be the most specific findings
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
  • mutations leading to disruptions of the microfibrillar network in the ECM of the proband skin (PMID: 22539340))