- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:206599)
This phenotype is associated with the disease Isolated asymptomatic elevation of creatine phosphokinase (ORPHA:206599).
The following phenotypes are NOT associated with this disease:
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. (ORPHA:206599)
- Elevated creatine kinase after exercise (HP:0008331). Evidence: TAS. (ORPHA:206599)