- Laryngeal cleft (HP:0008751): Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2004)
- 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: Frequent (HP:0040282). (ORPHA:2004)
- Laryngomalacia (HP:0001601): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2004)
- Abnormality of the voice (HP:0001608). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2004)
- Hoarse cry (HP:0001615). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2004)
- 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: Frequent (HP:0040282). (ORPHA:2004)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2004)
- Aspiration (HP:0002835): Inspiration of a foreign object into the airway. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2004)
- Stridor (HP:0010307): Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2004)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2004)
- Choking episodes (HP:0030842): Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2004)
- Impaired oropharyngeal swallow response (HP:0031162): Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2004)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2004)
These phenotypes are associated with the disease Laryngotracheoesophageal cleft (ORPHA:2004).