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GENATLAS PHENOTYPE
last update : 29-11-2016
Symbol LCCS6
Location 14q32.33
Name lethal congenital contracture syndrome 6
Corresponding gene ZBTB42
Main clinical features
  • reduced fetal movements, and antenatal ultrasound showed severe polyhydramnios, absent stomach, and multiple contracture deformities
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Remark(s)