An exception to this observed associated between autosomal dominant variants and milder clinical phenotypes has been documented in a subset of patients with heterozygous missense variants in WFS1 who present with onset of diabetes in the first year of life as well as hypotonia, congenital sensorineural deafness and cataracts (De Franco et al., 2017). Here, WFS1 is linked to Congenital sensorineural hearing impairment.