Human genes for Wolfram syndrome 2
Wolfram syndrome 2 [DOID:0110630]
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: Wolfram syndrome 2, DOID:0110630, WFS2