This variant was inherited from her mother, who did not have any medical complaints.<h4>Discussion</h4>This is the first detailed report of a loss-of-function variant in <i>NRXN3</i> causing an identical phenotype, as reported for heterozygous large-scale deletions in the same genomic region, thereby confirming <i>NRXN3</i> as a novel gene for neurodevelopmental disorders with autism. This evidence concerns the gene NRXN3 and neurodevelopmental disorder.