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Wolfram syndrome 2

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Description

Wolfram syndrome-2 is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding (summary by Mozzillo et al., 2014). For a discussion of genetic heterogeneity of Wolfram syndrome, see WFS1 (222300).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

2

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Genes

External Links

  • OMIM

    604928

  • Orphanet
  • HPO
  • Medgen

    C1858028

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