A novel <i>CTBP1</i> variant in a Chinese pediatric patient with a phenotype distinct from hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.

"the data are deposited in the ncbi sequence read archive repository accession number prjna1019228 ( https://www ncbi nlm nih gov/sra/ prjna1019228 ). data availability statement the original contributions presented in the study are publicly available. the data are deposited in the ncbi sequence read archive repository accession number prjna1019228"

"Conflict of interest The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest."

"The author(s) declare financial support was received for the research, authorship, and/or publication of this article. The research received financial support from the Guangxi Zhuang Region Health Department (Z20190311, Z-A 20230305, Z20220256.) and Liaoning Province Applied Basic Research Program Project (2023JH2/101300044)."