TGFBI and cerebral creatine deficiency syndrome: In the current study, 17 pathogenic or likely pathogenic variants (including 4 novel variants) in TGFBI, CHST6, SLC4A11, and ZEB1 were detected in 30 of 37 families with CDs based on the systemic analysis of the exome sequencing data of the 15 genes related to CDs.