familial hyperinsulinemic hypoglycemia 4 (DOID:0070215)
Alliance: disease page
Synonyms: HHF4; hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; hyperinsulinism due to glutamodehydrogenase deficiency; hyperinsulinism due to SCHAD deficiency; hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Alt IDs: OMIM:609975, ORDO:71212
Definition: A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25.