We describe two brothers with a truncating variant in EIF2S3 and expand
the phenotypic description of MEHMO. Our cases had the previously
described facial dysmorphic features, severe microcephaly,
hypoglycaemia, hypothyreosis, epilepsy, hypertonus, obesity, micropenis
and death due to multiorgan failure. Additionally, we describe
hypothermia and reduced umbilical blood flow.