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GENATLAS PHENOTYPE
last update : 12/03/08
Symbol MPTLT3
Location 2q24-q32
Name multiple pterygium syndrome, lethal type 3
Corresponding gene CHRNA1
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