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Hypoinsulinemic hypoglycemia and body hemihypertrophy

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Description

Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.

ORDO

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

25

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Genes

External Links

  • OMIM

    240900

  • Orphanet

    293964

  • HPO
  • Medgen

    C3278384

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