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. The gene discussed is EIF2AK3; the disease is Primary hypothyroidism.