Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.

"the wes raw data of patient 1 is available in the sequence read archive public database ( https://www ncbi nlm nih gov/sra ) under data series accession number prjna719957."

"Declaration of interests The authors declare no competing interests."

"We are deeply grateful to the patients and their families for participating in this study. This study was supported by the National Key Research and Development Program of China (2020YFA0804000, 2022YFC2705200), 10.13039/501100001809National Natural Science Foundation of China (82071660, 81900722), the Program of Innovative Research Team of High-Level Local Universities in Shanghai (SHSMU-ZDCX20212200), the Project of 10.13039/501100003399Shanghai Municipal Science and Technology Commission (20MC1920400), Shanghai “Rising Stars of Medical Talents” Youth Development Program, and a grant from King Saud University (RSP-2021/181). We also acknowledge the support of King Salman Center for Disability Research through Research Group (RG-2022-010). Authors thank KFMC Research Centre for partial support."