| Disease ID | Source | Name | Description |
| 618857 | OMIM | Diabetes mellitus, permanent neonatal, 3 (PNDM3) | A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM3 patients may also have developmental delay, muscle weakness, and epilepsy. PNDM3 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry. |
| 256450 | OMIM | Familial hyperinsulinemic hypoglycemia 1 (HHF1) | Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. The disease is caused by variants affecting the gene represented in this entry. |
| 240800 | OMIM | Leucine-induced hypoglycemia (LIH) | Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine. The disease is caused by variants affecting the gene represented in this entry. |
| 610374 | OMIM | Transient neonatal diabetes mellitus 2 (TNDM2) | Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence. The disease is caused by variants affecting the gene represented in this entry. |
| 602485 | OMIM | Familial hyperinsulinemic hypoglycemia 3 (HHF3) | Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. |