Pathogenic variants in NOTCH1 are associated with Adams-Oliver syndrome, a third of whom have intellectual disability [31] and loss-of-function mutation in the FIBP gene underlies an autosomal recessive syndromic overgrowth (mainly in height) associated with macrosomia, learning disabilities/developmental delay, and other congenital defects [32]. This evidence concerns the gene NOTCH1 and Adams-Oliver syndrome.