visceral heterotaxy 11

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 or compound heterozygous

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 or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23.

Signs and symptoms

• Situs inversus totalis
• Chronic sinusitis
• Asthenopia
• Reduced progressive sperm motility
• Chronic otitis media
• Primum atrial septal defect
• Partial atrioventricular canal defect
• Polysplenia
• Duodenal atresia
• Intestinal malrotation