We report a novel biallelic frameshift mutation p.Gly46AlafsTER19 [AHAE1] in the EIF2AK3 gene in a child with features of WRS, including neonatal diabetes, failure to thrive, recurrent hepatitis, exocrine pancreatic insufficiency, and primary hypothyroidism without any skeletal deformities. This evidence concerns the gene EIF2AK3 and exocrine pancreatic insufficiency.