has characteristic has characteristic syndromic disease congenital neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts 2019-01-23T23:06:10Z https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/582 https://github.com/monarch-initiative/mondo/issues/7700 MONDO:0100072 Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients. This phenotype has been found in association with de novo heterozygous variants in WFS1. The mechanism for disease has been proposed as gain-of-function by De Franco et al 2017 (PMID:28468959). The mechanism for disease and severity of phenotype distinguish these affected individuals from Wolfram-like syndrome patients, which have also been linked to heterozygous WFS1 variants (non-de novo).