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GENATLAS PHENOTYPE
last update : 03-10-2019
Symbol DEL8Q13
Location 8q13.3
Name chromosome 8q13 microdeletion
Other name(s)
  • mesomelia-synostoses syndrome (MSS)
  • mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type
  • Corresponding gene SLCO5A1 , SULF1
    Other symbol(s) MSS
    Main clinical features
  • characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations
  • Genetic determination
    Function/system disorder osteo-articular
    Remark(s)