- Focal dystonia (HP:0004373): A type of dystonia that is localized to a specific part of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98807)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98807)
- Generalized dystonia (HP:0007325): A type of dystonia that affects all or most of the body. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98807)
- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98807)
- Motor stereotypy (HP:0000733): Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98807)
- Torsion dystonia (HP:0001304): Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98807)
- Postural instability (HP:0002172): A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98807)
- Involuntary movements (HP:0004305): Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98807)
- 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: Frequent (HP:0040282). (ORPHA:98807)
- 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: Frequent (HP:0040282). (ORPHA:98807)
- Jerky head movements (HP:0006961). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98807)
- Craniofacial dystonia (HP:0012179): A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98807)
- Postural tremor (HP:0002174): A type of tremors that is triggered by holding a limb in a fixed position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98807)
- Action tremor (HP:0002345): A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98807)
These phenotypes are associated with the disease Primary dystonia, DYT13 type (ORPHA:98807).