autosomal dominant Wolfram syndrome (Q66804102)
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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
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal dominant Wolfram syndrome |
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 |
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