Variants
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Maturity-onset diabetes of the young type 6

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Description

Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes.

NCI

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

51

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Genes

External Links

  • OMIM

    606394

  • Orphanet
  • HPO
  • Medgen

    C1853371

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