GLIS3 GENE ANALYSIS IN NEONATAL DIABETES MELLITUS AND CONGENITAL HYPOTHYROIDISM (NDH SYNDROME)
Neonatal diabetes mellitus and congenital hypothyroidism (OMIM: 610192) (also known as NDH syndrome) is an autosomal recessive disorder characterised by early onset diabetes mellitus requiring insulin treatment and congenital hypothyroidism. Facial anomalies, congenital glaucoma, hepatic fibrosis, polycystic kidneys and mental retardation are additional reported features. The syndrome results from disease-causing variants in the transcription factor GLIS3 (Senee et al. 2006 Nature Genet. 38: 682-687).
Please follow the link below to the relevant diabetesgenes website page for Neonatal Diabetes information and forms: