Conditions / Genetic

visceral heterotaxy 10

info ยท Genetic

A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 g

A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13.

Signs and symptoms

  • Situs inversus totalis
  • Abdominal situs inversus
  • Male infertility
  • Recurrent otitis media
  • Cough
  • Chronic sinusitis
  • Dextrocardia
  • Decreased nasal nitric oxide