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Wolfram syndrome 2

Summary

Wolfram syndrome-2 (WFS2) 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). [from OMIM]

Available tests

41 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (41 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ERIS, Miner1, NAF-1, WFS2, ZCD2, CISD2
    Summary: CDGSH iron sulfur domain 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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