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neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0100072:  neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts