Term Name: | familial hyperinsulinemic hypoglycemia 4 |
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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 |
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. |
Ontology: | Human Disease [DOID:0070215] ( DOID:0070215 ) |