SYNGAP1 and neurodevelopmental disorder: A limitation of our study is that for differentially spliced Orphanet genes, the identification of the precise AS event and its association with an NMD transcript were less clear than with SYNGAP1. For example, GRIN1 (associated with a spectrum of neurodevelopmental disorders) demonstrates PTBP2 binding and alternative splicing proximal to NMD-associated events, as well as differential gene expression upon PTBP2 KD.