- Weak cry (HP:0001612). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:141127)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141127)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141127)
- Abnormal tracheal morphology (HP:0002778): A structural anomaly of the trachea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141127)
- Abnormal tracheobronchial morphology (HP:0005607). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141127)
- Anomalous origin of left pulmonary artery from ascending aorta (HP:0011661): The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141127)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141127)
- Wheezing (HP:0030828): A high-pitched whistling sound associated with labored breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141127)
- 5-minute APGAR score of 3 (HP:0030923). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141127)
- Abnormality of the ureter (HP:0000069): An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Abnormality of the genitourinary system (HP:0000119): The presence of any abnormality of the genitourinary system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Abnormal earlobe morphology (HP:0000363): An abnormality of the lobule of pinna. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Fetal ascites (HP:0001791): Accumulation of fluid in the peritoneal cavity during the fetal period. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Abnormal lung morphology (HP:0002088): Any structural anomaly of the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Abnormal lung lobation (HP:0002101): A developmental defect in the formation of pulmonary lobes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Meckel diverticulum (HP:0002245): Meckel's diverticulum is a congenital diverticulum located in the distal ileum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Duodenal atresia (HP:0002247): A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Abnormal stomach morphology (HP:0002577): An abnormality of the stomach. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Pulmonary artery atresia (HP:0004935): A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Preductal coarctation of the aorta (HP:0005151): Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Abnormal gastrointestinal tract morphology (HP:0012718): Abnormal structure of the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Neonatal asphyxia (HP:0012768): Respiratory failure in the newborn. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Ascending aorta hypoplasia (HP:0031935): Significant luminal narrowing of a long segment of or the entire ascending aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Duodenal stenosis (HP:0100867): The narrowing or partial blockage of a portion of the duodenum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141127)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:141127)
- Upper airway obstruction (HP:0002781): Increased resistance to the passage of air in the upper airway. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:141127)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:141127)
- Abnormal bronchus morphology (HP:0025426): Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:141127)
These phenotypes are associated with the disease Congenital tracheal stenosis (ORPHA:141127).