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GTR Home > Conditions/Phenotypes > Hyperinsulinemic hypoglycemia, familial, 8

Hyperinsulinemic hypoglycemia, familial, 8

Summary

Familial hyperinsulinemic hypoglycemia-8 (HHF8) is an autosomal recessive disorder characterized by protein-related hypoglycemia and persistent mild hyperammonemia (summary by Shahroor et al., 2022). For a phenotypic description and a discussion of genetic heterogeneity of familial hyperinsulinemic hypoglycemia, see HHF1 (256450). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HHF8, PNC2, SLC25A36
    Summary: solute carrier family 25 member 36

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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