- Abnormal periauricular region morphology (HP:0000383). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3232)
- 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:3232)
- Abnormal stapes morphology (HP:0008628): An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3232)
- Abnormal antihelix morphology (HP:0009738): An abnormality of the antihelix. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3232)
- Hypoplasia of the antihelix (HP:0009739): Developmental hypoplasia of the antihelix. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3232)
- Aplasia/Hypoplasia of the earlobes (HP:0009906): Absence or underdevelopment of the ear lobes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3232)
- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3232)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3232)
These phenotypes are associated with the disease Deafness-ear malformation-facial palsy syndrome (ORPHA:3232).