Term Name: | Wolfram syndrome 2 |
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Synonyms: | WFS2 |
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. |
Ontology: | Human Disease [DOID:0110630] ( DOID:0110630 ) |