We report a novel heterozygous variant of a 4-nucleotide deletion (c.1302+4_1302+7del) in the donor splicing site of exon 3 of the GATA6 gene in a patient of the age of 8 with neonatal diabetes, exocrine pancreatic insufficiency, gallbladder atresia, and a congenital heart defect. This evidence concerns the gene GATA6 and exocrine pancreatic insufficiency.