Deletions at 2p16.3 have variable expressivity and incomplete penetrance and have been associated with susceptibility to developmental delay, ASD, schizophrenia, and dysmorphic features.[57] We previously reported a case with epilepsy and impaired respiratory drive leading to death and single nucleotide variants in both NRXN1 and NRXN2 categorized as VUS.[58] None of the characteristic facial dysmorphisms of NRXN1 deletion were noted in case 1, though they may not be well‐developed in a 3‐month‐old. This evidence concerns the gene NRXN1 and Global developmental delay.