Phenotypes associated with the disease Hyperinsulinism-hyperammonemia syndrome (ORPHA:35878):
- Asymptomatic hyperammonemia (HP:0008162): An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:35878)
- Reactive hypoglycemia (HP:0012051): Hypoglycermia following a meal (or more generally, after intake of glucose). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:35878)
- Hyperinsulinemic hypoglycemia (HP:0000825): An increased concentration of insulin combined with a decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35878)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35878)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35878)
- Generalized non-motor (absence) seizure (HP:0002121): A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35878)
- Generalized-onset seizure (HP:0002197): A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35878)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35878)
- Attention deficit hyperactivity disorder (HP:0007018): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35878)
- 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: Frequent (HP:0040282). (ORPHA:35878)
- EEG with generalized epileptiform discharges (HP:0011198): EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35878)
- Increased urine alpha-ketoglutarate concentration (HP:0012402): A greater than normal concentration of 2-oxoglutaric acid in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35878)