Neonatal Diabetes Mellitus with Congenital Hypothyroidism [OMIM#610199] is characterized by neonatal diabetes mellitus, severe congenital hypothyroidism, hepatic fibrosis, polycystic kidneys and congenital glaucoma. Facial dysmorphism, intrauterine growth restriction and mild intellectual disability have also been reported.
Mutations in the GLIS3 [OMIM#610192] gene cause Neonatal Diabetes Mellitus with Congenital Hypothyroidism. To date frameshift mutations and gross deletions have been described. GLIS3 belongs to the GLIS subfamily of Kruppel-like zinc finger proteins and functions as an activator and repressor of transcription.