SETBP1-HD with a much less severe phenotype than SGS, also known as the Autosomal Dominant Mental Retardation type 29 (MRD29), was characterized by broad clinical spectrum, such as mild motor developmental delay, hypotonia, intellectual abilities ranging from normal to severe disability, speech and language delay, behavioral problems (attention deficits and hyperactivity, impulsivity), congenital anomalies (ankyloglossia and undescended testicles), subtle facial features and vision impairment (refractive errors and strabismus) [9, 10]. This evidence concerns the gene SETBP1 and Schinzel-Giedion syndrome.