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autosomal dominant Wolfram syndrome
Summary
- Definition
- A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16.
- Super Class
- Wolfram syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0080584
- Mondo Disease Ontology
- OMIM
Related Genes
