Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 25-06-2010
Symbol SGBS
Location Xq26.2
Name Simpson-Golabi-Behmel syndrome
Other name(s)
  • Bullog syndrome
  • dysplasia gigantism syndrome, x-linked
  • Golabi-Rosen syndrome
  • Simpson dysmorphia syndrome
  • Corresponding gene GPC3
    Other symbol(s) SGBS, SGBS1, DGSX, SDYS
    Main clinical features
  • characterized by pre and postnatal overgrowth, visceromegaly, omphalocele, polydactyly and mental retardation of variable degree, and rare Wilms tumor
  • Genetic determination sex linked
    Function/system disorder congenital malformation
    mental retardation
    Type disease
    Gene product
    Name glypican 3 (GPC3), ? and/or glypican 4 (GPC4)