SETBP1 and Schinzel-Giedion syndrome: Schinzel-Giedion syndrome (SGS; OMIM 269150) is a very rare congenital neurological disease caused by gain-of-function mutations in SETBP1 gene (SET-binding protein 1/SEB/MRD29) and has only 50 reported cases worldwide (Duis and van Bon, 1993; Disorders, 2022; Zheng et al., 2024).