- Median cleft upper lip (HP:0000161): A type of cleft lip presenting as a midline (median) gap in the upper lip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1993)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1993)
- Abnormal oral frenulum morphology (HP:0000190): An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1993)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1993)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1993)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1993)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1993)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1993)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1993)
- Encephalocele (HP:0002084): A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1993)
- Midline defect of the nose (HP:0004122): This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1993)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1993)
- Midline central nervous system lipomas (HP:0006866). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1993)
- Aplasia/Hypoplasia of the corpus callosum (HP:0007370): Absence or underdevelopment of the corpus callosum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1993)
- Skin tags (HP:0010609): Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1993)
- Nasal polyposis (HP:0100582): Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1993)
These phenotypes are associated with the disease Pai syndrome (ORPHA:1993).