- 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: Very frequent (HP:0040281). (ORPHA:998)
- Hypopigmented skin patches (HP:0001053). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:998)
- Heterochromia iridis (HP:0001100): Heterochromia iridis is a difference in the color of the iris in the two eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:998)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:998)
- Irregular hyperpigmentation (HP:0007400). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:998)
- Partial albinism (HP:0007443): Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:998)
- Piebald skin depigmentation (HP:0007544): Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:998)
These phenotypes are associated with the disease Albinism-deafness syndrome (ORPHA:998).