- Progressive sensorineural hearing impairment (HP:0000408): A progressive form of sensorineural hearing impairment. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2791)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2791)
- Abnormal dental pulp morphology (HP:0006479): An abnormality of the dental pulp. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2791)
- Abnormal molar morphology (HP:0011070): An abnormality of morphology of molar tooth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2791)
- Abnormality of canine (HP:0011078): An abnormality of canine tooth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2791)
- Gingival overgrowth (HP:0000212): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2791)
- Long face (HP:0000276): 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). (ORPHA:2791)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2791)
- Abnormal maxilla morphology (HP:0000326): An abnormality of the Maxilla (upper jaw bone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2791)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2791)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2791)
- Taurodontia (HP:0000679): Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2791)
- Abnormal dental enamel morphology (HP:0000682): An abnormality of the dental enamel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2791)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2791)
- Periodontitis (HP:0000704): Inflammation of the periodontium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2791)
- High-frequency sensorineural hearing impairment (HP:0001757): A form of sensorineural hearing impairment that affects primarily the higher frequencies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2791)
- Pulp calcification (HP:0003771): Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2791)
- Agenesis of premolar (HP:0011051): Agenesis of premolar tooth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2791)
- Retinal coloboma (HP:0000480): A notch or cleft of the retina or choroid, located vertically below the optic disc. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2791)
- Microcornea (HP:0000482): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2791)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2791)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2791)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2791)
- Odontoma (HP:0011068): The presence of an odontoma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2791)
- Otitis media with effusion (HP:0031353): Otitis media characterized by thick or sticky fluid behind the tympanic membrane. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2791)
- Lens coloboma (HP:0100719): A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2791)
These phenotypes are associated with the disease Otodental syndrome (ORPHA:2791).