In contrast, heterozygous de novo germline loss-of-function (LoF) variants (truncating and SETBP1-specific microdeletions) lead to SETBP1-haploinsufficiency disorder (MIM #616078, OMIM 606078) which is a milder neurodevelopmental disorder showing a broad range of symptoms with variable severity7. This evidence concerns the gene SETBP1 and neurodevelopmental disorder.