Recessive homozygote mutations in the eIF2α kinase domain of the PERK (EIF2AK3) gene results in Wolcott-Rallison syndrome, characterized by infantile non-autoimmune insulin-dependent diabetes, multiple epiphyseal dysplasia, defects in exocrine pancreas, hepatic steatosis, microcephaly, intellectual disability and growth retardation (Delepine et al., 2000; Senee et al., 2004). Here, EIF2AK3 is linked to multiple epiphyseal dysplasia.