Compound heterozygous RNU4ATAC variants have also been reported to cause Roifman syndrome (OMIM #300258) [10, 46], a rare congenital association of antibody deficiency, spondyloepiphyseal chondro-osseous dysplasia, retinal dystrophy, poor pre- and postnatal growth and cognitive delay, which is phenotypically quite different from MOPD1. Here, RNU4ATAC is linked to Global developmental delay.