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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 29/06/2006
Symbol EXT2
Location 11p11.2
Name exostoses, multiple, 2
Corresponding gene EXT2
Main clinical features
  • congenital, associated with foramina parietalia permagma, craniosynostosis, micropenis, mental retardation in a contiguous gene syndrome with 11p-deletion (DEF11S)
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name putative suppressor gene, 82 kD, mostly loss of function mutations