- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306734)
- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306734)
- Blepharospasm (HP:0000643): A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306734)
- Paroxysmal dystonia (HP:0002268): A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306734)
- Focal dystonia (HP:0004373): A type of dystonia that is localized to a specific part of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306734)
- Generalized dystonia (HP:0007325): A type of dystonia that affects all or most of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306734)
- Limb dystonia (HP:0002451): A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306734)
- Axial dystonia (HP:0002530): A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306734)
- Laryngeal dystonia (HP:0012049): A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306734)
These phenotypes are associated with the disease Primary dystonia, DYT21 type (ORPHA:306734).