To date, variants in at least 15 genes have been reported to cause Mendelian inheritance of CDs, including TGFBI [4], CHST6 [5], SLC4A11 [6], TACSTD2 [7], ZEB1 [8], UBIAD1 [9], KRT12 [10], COL8A2 [11], OVOL2 [12], PIKFYVE [13], COL17A1 [14], GRHL2 [15], AGBL1 [16], DCN [17], and KRT3 [10]. The gene discussed is SLC4A11; the disease is cerebral creatine deficiency syndrome.