- Torsion dystonia (HP:0001304): Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:41)
- Macular hypopigmentation (HP:0007988): Decreased amount of pigmentation in the macula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:41)
- Macular hyperpigmentation (HP:0011509): Increased amount of pigmentation in the macula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:41)
- Macule (HP:0012733): A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:41)
These phenotypes are associated with the disease Dyschromatosis symmetrica hereditaria (ORPHA:41).