autosomal dominant Wolfram syndrome

Term ID

DOID:0080584

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. https://www.ncbi.nlm.nih.gov/pubmed/18544103

References

• OMIM:614296

Ontology

Human Disease   ( DOID:0080584 )