- Hyperinsulinemic hypoglycemia (HP:0000825): An increased concentration of insulin combined with a decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79299)
- Hypoketotic hypoglycemia (HP:0001985): A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79299)
- Recurrent hypoglycemia (HP:0001988): Recurrent episodes of decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79299)
- Fasting hyperinsulinemia (HP:0008283): An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79299)
- Abnormal circulating C-peptide concentration (HP:0030794): Any deviation from the normal concentration of C-peptide in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79299)
- 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: Frequent (HP:0040282). (ORPHA:79299)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79299)
- Hand tremor (HP:0002378): An unintentional, oscillating to-and-fro muscle movement affecting the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79299)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79299)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79299)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79299)
- Abnormality of the autonomic nervous system (HP:0002270): An abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79299)
- Abnormal nervous system physiology (HP:0012638): A functional anomaly of the nervous system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79299)
These phenotypes are associated with the disease Congenital glucokinase-related hyperinsulinism (ORPHA:79299).