De novo gain-of-function variants of SETBP1 are associated with Schinzel-Giedion midface retraction syndrome (MIM #269150), while haploinsufficiency of SETBP1 caused by loss-of-function (LoF) variant or a heterozygous gene deletion is related to DD, autosomal dominant 29 (MIM #616078). Here, SETBP1 is linked to Schinzel-Giedion syndrome.