- Asymptomatic hyperammonemia (HP:0008162): An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. Evidence: PCS. Frequency: 5/5. (PMID:10636977)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 4/5. (PMID:10636977)
- Hyperinsulinemic hypoglycemia (HP:0000825): An increased concentration of insulin combined with a decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 5/5. (PMID:10636977)
- Hypoglycemic seizures (HP:0002173). Evidence: PCS. (PMID:10636977)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/5. (PMID:10636977)
- Abnormality of the pancreatic islet cells (HP:0006476): An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. Evidence: PCS. Frequency: 0/5. (PMID:10636977)
- 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:10636977)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. (PMID:10636977)
- Hypoglycemic coma (HP:0001325): Coma induced by low blood sugar. Evidence: PCS. (PMID:10636977)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/5. (PMID:10636977)
These phenotypes are associated with the disease hyperinsulinism-hyperammonemia syndrome (OMIM:606762).