- Ophthalmoparesis (HP:0000597): Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99736)
- Ophthalmoplegia (HP:0000602): Paralysis of one or more extraocular muscles that are responsible for eye movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99736)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99736)
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99736)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99736)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99736)
- Myotonia (HP:0002486): An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99736)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99736)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99736)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99736)
- Skeletal muscle hypertrophy (HP:0003712): Abnormal increase in muscle size and mass not due to training. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99736)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99736)
These phenotypes are associated with the disease Acetazolamide-responsive myotonia (ORPHA:99736).