In line with these findings, genetic mutations in several components of the PERK-eIF2α-ATF4 pathway were shown to result in rare autosomal recessive syndromes that include congenital microcephaly among their symptoms: PERK/EIF2AK3 deficiency that impairs eIF2α phosphorylation causes Wolcott-Rallison syndrome (#MIM226980) characterized by early-onset insulin-dependent diabetes associated with growth retardation, hepatic dysfunction, pancreas insufficiency and microcephaly with ID [77]. Here, EIF2AK3 is linked to Primary microcephaly.