- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: TAS. (OMIM:118800)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: IEA. (OMIM:118800)
- Myokymia (HP:0002411): Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle. Evidence: IEA. (OMIM:118800)
- 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: IEA. (OMIM:118800)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: IEA. (OMIM:118800)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. (PMID:15262732)
- Paroxysmal choreoathetosis (HP:0007098): Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. Evidence: PCS. Frequency: 12/12. (PMID:15262732)
- Facial grimacing (HP:0000273). Evidence: IEA. (OMIM:118800)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: TAS. (OMIM:118800)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:15262732)
These phenotypes are associated with the disease paroxysmal nonkinesigenic dyskinesia 1 (OMIM:118800).