Hyperinsulinemic hypoglycemia with polycystic kidney disease is an autosomal recessive disorder caused by homozygous promotor mutations or compound heterozygous promotor mutation with a coding mutation of the PMM2 gene. The disease manifests early in childhood.
17 such cases in 11 families are described yet.[Error: Macro 'ref' doesn't exist]
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OMIM.ORG article Omim 601785
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