- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:243343)
- 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: Very frequent (HP:0040281). (ORPHA:243343)
- Increased muscle fatiguability (HP:0003750): An abnormal, increased fatiguability of the musculature. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:243343)
- Abnormal circulating enzyme concentration or activity (HP:0012379): Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:243343)
- Fish odor (HP:0410020): Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:243343)
These phenotypes are associated with the disease Dimethylglycine dehydrogenase deficiency (ORPHA:243343).