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