- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3216)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3216)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3216)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3216)
- Preauricular skin tag (HP:0000384): A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3216)
- Overfolded helix (HP:0000396): A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3216)
- Stenosis of the external auditory canal (HP:0000402): An abnormal narrowing of the external auditory canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3216)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3216)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3216)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3216)
- Hernia of the abdominal wall (HP:0004299): The presence of a hernia in the abdominal wall. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3216)
- Abnormality of the middle ear ossicles (HP:0004452): An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3216)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3216)
These phenotypes are associated with the disease Conductive deafness-malformed external ear syndrome (ORPHA:3216).