- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:660)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:660)
- Fetal ultrasound soft marker (HP:0011425): An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:660)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:660)
- Elevated maternal circulating alpha-fetoprotein concentration (HP:0011432): Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:660)
These phenotypes are associated with the disease Omphalocele (ORPHA:660).