Phenotypes associated with the disease Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome (ORPHA:163727):
- Horizontal nystagmus (HP:0000666): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163727)
- 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:163727)
- Writer's cramp (HP:0002356): A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163727)
- Prolonged somatosensory evoked potentials (HP:0007104). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163727)
- Focal hemifacial clonic seizure (HP:0007332): Focal seizure characterized at onset by clonic movements affecting half of the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163727)
- EEG with parietal sharp waves (HP:0011295): EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163727)
- EEG with parietal focal spike waves (HP:0012012): EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163727)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163727)