Conditions / Genetic

visceral heterotaxy 12

info ยท Genetic

A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chr

A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11.

Signs and symptoms

  • Situs inversus totalis
  • Complete atrioventricular canal defect
  • Double outlet right ventricle
  • Dextrocardia
  • Abdominal situs ambiguus
  • Patent ductus arteriosus
  • Atrial septal defect
  • Single ventricle
  • Pulmonic stenosis
  • Ventricular septal defect