Wolfram syndrome 2 (DOID:0110630)
Alliance: disease page
Synonyms: WFS2
Alt IDs: OMIM:604928, ICD10CM:E13.8, MESH:C565733
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.