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last update : 11-05-2017
Symbol LCCS8
Location 12q13.12
Name lethal congenital contracture syndrome 8
Corresponding gene ADCY6
Main clinical features
  • characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period
  • transmission electron microscopic analysis of nerve showed no myelinated axons and some redundant basal lamina of Schwann cells
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease