The exact impact of this variant will need to be confirmed through RNA studies, but RNA was not available for the patient; (3) A promoter variant that is located in a highly evolutionarily conserved position (PhyloP=7.426) 13 bp upstream of the TSS of ZBTB18 in a participant with Intellectual disability; (4) A 5′UTR splice-site variant in SETD5 in an individual originally suspected to have Silver Russell Syndrome (OMIM:180860). The gene discussed is ZBTB18; the disease is Silver-Russell syndrome.