- Neck muscle weakness (HP:0000467): Decreased strength of the neck musculature. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158)
- Clumsiness (HP:0002312): Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158)
- Acute encephalopathy (HP:0006846). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158)
- Bilateral tonic-clonic seizure with focal onset (HP:0007334): A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:158)
These phenotypes are associated with the disease Systemic primary carnitine deficiency (ORPHA:158).