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References OMIM Gene GeneReviews HGMD HGNC
last update : 30-06-2012
Symbol BOPS
Location 20q11.1
Name Bohring-Opitz syndrome
Other name(s)
  • Opitz trigonocephaly -like syndrome
  • Corresponding gene ASXL1
    Main clinical features
  • severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, microcephaly, micro/retrognathia
  • flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    Type disease