- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:35701)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:35701)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:35701)
These phenotypes are associated with the disease 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (ORPHA:35701).