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Browse result for Hypoinsulinemic hypoglycemia with hemihypertrophy

※ introduction

    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.

Reference
DiseaseOntology: Hypoinsulinemic hypoglycemia with hemihypertrophy



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00241P31751208
AKT2
RAC-beta serine/threonine-protein kinase
Homo sapiens