Term Name: | autosomal dominant Wolfram syndrome |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080584] ( DOID:0080584 ) |