Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 12/03/2008
Symbol MPTLT4
Location 2q33-q34
Name multiple pterygium syndrome, lethal type 4
Corresponding gene CHRND
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
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   abnormal protein/loss of function homozygous nonsense mutations