Term Name: | hypoinsulinemic hypoglycemia with hemihypertrophy |
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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. |
Ontology: | Human Disease [DOID:0112263] ( DOID:0112263 ) |