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Pathogenic microdeletions, duplications and single nucleotide variants in numerous genes were previously linked with neurodevelopmental disorders (NDDs). Amongst them,\n                    <jats:italic>SET<\/jats:italic>\n                    has recently been implicated in a rare NDD with speech delay and facial dysmorphism. This study reports a female with a heterozygous\n                    <jats:italic>de novo<\/jats:italic>\n                    deletion impacting\n                    <jats:italic>SET<\/jats:italic>\n                    but not other NDD\u2010associated genes at 9q34.11. The proband was initially diagnosed with atypical Rett syndrome with overlapping clinical features of\n                    <jats:italic>SET<\/jats:italic>\n                    haploinsufficiency. The deletion was confirmed using microarray and long\u2010read sequencing. Subsequent quantitative proteomic evaluation identified a significant decrease of SET protein in patient\u2010derived fibroblasts compared to control lines. This study provides insights into the proband's clinical course over their 28 year diagnostic odyssey, and emphasises the benefits of early speech therapy interventions. The proband had no functional speech, but regained the capacity to meaningfully communicate and articulate a limited vocabulary in adulthood, concordant with other reported non\u2010paediatric cases of\n                    <jats:italic>SET<\/jats:italic>\n                    \u2010NDD. This study expands current knowledge on the genotypic and phenotypic spectra of\n                    <jats:italic>SET<\/jats:italic>\n                    \u2010NDD, and pinpoints a smaller 9q34.11 critical region excluding upstream NDD\u2010associated genes,\n                    <jats:italic>STXBP1<\/jats:italic>\n                    and\n                    <jats:italic>SPTAN1<\/jats:italic>\n                    , implicating\n                    <jats:italic>SET<\/jats:italic>\n                    as a significant NDD\u2010associated gene.\n                  <\/jats:p>","DOI":"10.1111\/cge.70213","type":"journal-article","created":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T03:11:02Z","timestamp":1783739462000},"page":"438-448","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval"],"prefix":"10.1111","volume":"110","author":[{"given":"Angelo","family":"Condell","sequence":"first","affiliation":[{"name":"Brain and Mitochondrial Research Group Murdoch Children's Research Institute  Melbourne Victoria Australia"},{"name":"Canberra Clinical Genomics The Australian National University, Canberra Health Services  Canberra Australian Capital Territory Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-8126-3190","authenticated-orcid":false,"given":"Elaine","family":"Zhang","sequence":"additional","affiliation":[{"name":"Brain and Mitochondrial Research Group Murdoch Children's Research Institute  Melbourne Victoria Australia"},{"name":"Murdoch Children's Research Institute, Royal Children's Hospital  Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Sikora","sequence":"additional","affiliation":[{"name":"Brain and Mitochondrial Research Group Murdoch Children's Research Institute  Melbourne Victoria Australia"},{"name":"Murdoch Children's Research Institute, Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"Massey","sequence":"additional","affiliation":[{"name":"Brain and Mitochondrial Research Group Murdoch Children's Research Institute  Melbourne Victoria Australia"},{"name":"Murdoch Children's Research Institute, Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole J.","family":"Van Bergen","sequence":"additional","affiliation":[{"name":"Brain and Mitochondrial Research Group Murdoch Children's Research Institute  Melbourne Victoria Australia"},{"name":"Murdoch Children's Research 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