Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 02-07-2009
Symbol MPTLT5
Location 4p16.2
Name multiple pterygium syndrome, lethal type 5
Corresponding gene DOK7
Other symbol(s) FADS
Main clinical features
  • fetal akinesia with hydrops, contractures, pterygia, and a fatal prognosis
  • early severe fetal akinesia deformation sequence
  • cystic hygroma and hydrops
  • multiple pterygia and arthrogryposis
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease