- Pancreatic islet-cell hyperplasia (HP:0004510): Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. Evidence: PCS. (PMID:1358043)
- Hyperinsulinemic hypoglycemia (HP:0000825): An increased concentration of insulin combined with a decreased concentration of glucose in the blood. Evidence: PCS. (PMID:17701893)
- Hypoglycemic seizures (HP:0002173). Evidence: PCS. (PMID:11207177)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: PCS. (PMID:17701893)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:17701893)
- Hyperinsulinemia (HP:0000842): An increased concentration of insulin in the blood. Evidence: PCS. (PMID:17701893)
These phenotypes are associated with the disease exercise-induced hyperinsulinism (OMIM:610021).