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We report a male individual with a 2.0\u00a0Mb deletion within 9q34.11, involving <jats:italic>SET<\/jats:italic> and <jats:italic>SPTAN1<\/jats:italic>, but not <jats:italic>STXBP1<\/jats:italic>. Among the genes with a high probability of being loss\u2010of\u2010function intolerant in the deletion interval, only <jats:italic>SPTAN1<\/jats:italic> and <jats:italic>SET<\/jats:italic> had haploinsufficiency score (%HI) &lt;10, indicating a high likelihood of haploinsufficiency. Pathogenic variants in <jats:italic>SPTAN1<\/jats:italic> are responsible for early\u2010onset epileptic encephalopathy by exerting a dominant\u2010negative effect. However, whether haploinsufficiency of <jats:italic>SPTAN1<\/jats:italic> alone also causes the severe phenotype remained unknown. SET is a regulator of cell differentiation in early human development and a component of the inhibitor of histone acetyltransferases complex. Therefore, combining the previously reported patients, our patient delineated the phenotypic spectrum of <jats:italic>SET<\/jats:italic>\u2010related nonsyndromic intellectual disability with mild facial dysmorphism.<\/jats:p>","DOI":"10.1002\/ajmg.a.62681","type":"journal-article","created":{"date-parts":[[2022,2,5]],"date-time":"2022-02-05T15:09:37Z","timestamp":1644073777000},"page":"1595-1599","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Further delineation of <scp><i>SET<\/i><\/scp>\u2010related intellectual disability syndrome"],"prefix":"10.1002","volume":"188","author":[{"given":"Kenta","family":"Shono","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"Enomoto","sequence":"additional","affiliation":[{"name":"Clinical Research Institute Kanagawa 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