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Diabetes mellitus, permanent neonatal 3

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Description

Permanent neonatal diabetes mellitus-3 (PNDM3) is characterized by the onset of mild to severe hyperglycemia within the first months of life, and requires lifelong therapy (summary by Babenko et al., 2006). Some patients also have neurologic features, including developmental delay and epilepsy (Proks et al., 2006; Babenko et al., 2006). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND. For a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 (606176).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Autosomal recessive inheritance

VARIANTS

24

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Genes

External Links

  • OMIM

    618857

  • Orphanet
  • HPO
  • Medgen

    C5394303

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