hypoinsulinemic hypoglycemia with hemihypertrophy

Term ID

DOID:0112263

Synonyms

• HIHGHH
• hypoinsulinemic hypoglycemia and body hemihypertrophy

Definition

An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2. https://pubmed.ncbi.nlm.nih.gov/21979934/

References

• MIM:240900
• ORDO:293964

Ontology

Human Disease   ( DOID:0112263 )