The two novel phenotypes, hypothermia and reduced umbilical flow has, to our knowledge, not been associated with any other conditions with affected translation initiation such as Vanishing White Matter disease (MIM# 606686, MIM# 606454, MIM# 606273, MIM# 606687, MIM# 603945; EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5), variants in PPP1R15B, Wolcott Rallisson syndrome (MIM# 226980; EIF2AK3), or MEDS syndrome (MIM# 614231; IER3IP1). Here, EIF2B2 is linked to leukoencephalopathy with vanishing white matter.