Conditions / Syndrome
autosomal dominant Wolfram syndrome
info · Syndrome
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.
Signs and symptoms
- Blind-spot enlargement
- Hearing impairment
- Reduced visual acuity
- Optic atrophy
- Sensorineural hearing impairment
- Optic disc pallor
- Impaired glucose tolerance
- Severely reduced visual acuity
- Depression
- Progressive hearing impairment