Version: 8.0.0
Date: Tue Jan 28 2025
Wolfram syndrome 2
DOID:0110630
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Wolfram syndrome 2

Definition
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. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24.
Synonyms
  • WFS2
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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