In total, 17 pathogenic or likely pathogenic variants in 4 of the 15 genes were detected in 30 of 37 families with CDs, including 6 variants in TGFBI, 7 in CHST6, 3 in SLC4A11, and 1 in ZEB1 (Figure 1 and Table 1). The gene discussed is CHST6; the disease is cerebral creatine deficiency syndrome.