In this study, we have identified several autosomal recessive disorders associated with PNDM, including isolated pancreatic agenesis (OMIM 615935) due to pancreas associated transcription factor 1a (PTF1A) mutation, Fanconi–Bickel syndrome (FBS) due to solute carrier family 2 member 2 (SLC2A2) mutation (OMIM 227810), Wollcot–Ralison Syndrome (WRS) due to eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) mutation (OMIM 226980), and homozygous recessive glucokinase (GCK, OMIM 138079) and insulin (INS, OMIM 176730) mutations. The gene discussed is PTF1A; the disease is Wolcott-Rallison syndrome.