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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-11-2015
Symbol AMCN5
Location 15q11.2
Name arthrogryposis multiplex congenita, neurogenic 5
Corresponding gene MAGEL2
Main clinical features
  • severe fetal phenotype characterized by polyhydramnios, reduced fetal mobility and distal joint contractures
  • severe central hypotonia, club foot
  • fetopathological examination revealed severe microretrognathia associated with short palpebral fissures, hypertelorism, a short and large neck, bilateral club foot, flexion of elbows and knees, and camptodactyly of the fingers
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
  • paternal MAGEL2 mutations are responsible for lethal AMC (AMCN5) (PMID: 26365340))