OBSL1 and 3M syndrome: Among them, CUL7 appears to be the most predominant pathogenic gene, and the proportion of 3‐M syndrome cases with CUL7 variants is 77.5%, while OBSL1 accounts for a relatively small proportion of 16.3%.3, 11 Most variants in these three genes result in a truncated protein, suggesting that loss‐of‐function variants are responsible for this disease.12 It is worth noting that some patients with similar phenotypes do not carry variants in the three genes, indicating that there may be other genes that are responsible for 3‐M syndrome.