- Tall stature (HP:0000098, a Human Phenotype Ontology term): A height above that which is expected according to age and gender norms. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90024)
- Long face (HP:0000276, a Human Phenotype Ontology term): Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90024)
- Pointed chin (HP:0000307, a Human Phenotype Ontology term): A marked tapering of the lower face to the chin. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90024)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90024)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90024)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90024)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90024)
- Underdeveloped nasal alae (HP:0000430, a Human Phenotype Ontology term): Thinned, deficient, or excessively arched ala nasi. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90024)
- Wide nasal bridge (HP:0000431, a Human Phenotype Ontology term): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90024)
- Prominent nose (HP:0000448, a Human Phenotype Ontology term): Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90024)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90024)
- Downslanted palpebral fissures (HP:0000494, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90024)
- Synophrys (HP:0000664, a Human Phenotype Ontology term): Meeting of the medial eyebrows in the midline. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90024)
- Hypodontia (HP:0000668, a Human Phenotype Ontology term): The absence of five or less teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90024)
- Widely spaced teeth (HP:0000687, a Human Phenotype Ontology term): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90024)
- Microdontia (HP:0000691, a Human Phenotype Ontology term): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90024)
- Conical tooth (HP:0000698, a Human Phenotype Ontology term): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90024)
- Abnormal cranial nerve morphology (HP:0001291, a Human Phenotype Ontology term): Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90024)
- High hypermetropia (HP:0008499, a Human Phenotype Ontology term): A severe form of hypermetropia with over +5.00 diopters. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90024)
- Microtia (HP:0008551, a Human Phenotype Ontology term): Underdevelopment of the external ear. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90024)
- Skin tags (HP:0010609, a Human Phenotype Ontology term): 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: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90024)
- Supernumerary tooth (HP:0011069, a Human Phenotype Ontology term): The presence of one or more teeth additional to the normal number. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90024)
- Aplasia of the inner ear (HP:0011372, a Human Phenotype Ontology term): Absence of the inner ear due to a developmental defect. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90024)
These phenotypes are associated with the disease Deafness with labyrinthine aplasia, microtia, and microdontia (ORPHA:90024, an Orphanet rare-disease identifier).