- Episodic flaccid weakness (HP:0003752): Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. Evidence: PCS. Frequency: 2/2. (PMID:38344586;PMID:36733446)
- Intermediate young adult onset (HP:0025709): Onset of disease at an age of greater than or equal to 19 to under 25 years. Evidence: PCS. Frequency: 1/1. (PMID:36733446)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:38344586)
- Myotonia (HP:0002486): An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. Evidence: PCS. Frequency: 0/1. (PMID:36733446)
- Chest tightness (HP:0031352): An unpleasant sensation of tightness or pressure in the chest. Evidence: PCS. Frequency: 1/1. (PMID:38344586)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: PCS. Frequency: 1/1. (PMID:38344586)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:38344586;PMID:36733446)
- Periodic paralysis (HP:0003768): Episodes of muscle weakness. Evidence: PCS. Frequency: 1/1. (PMID:36733446)
- 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:38344586)
These phenotypes are associated with the disease hypokalemic periodic paralysis, type 2 (OMIM:613345).