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References OMIM Gene GeneReviews HGMD HGNC
last update : 08-07-2015
Symbol FADSL
Location 9q31.3
Name fetal akinesia deformation sequence lethal
Corresponding gene MUSK
Main clinical features
  • congenital malformations related to impaired fetal movement
  • fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism
  • fetal myopathy was accompanied by impaired acetylcholine receptor clustering and reduced tyrosine kinase activity at motor nerve endings
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease