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We herein describe a 11\u2010year\u2010old male patient carrying a novel de novo pathogenic variant in <jats:italic>KDM6B<\/jats:italic> exhibiting facial dysmorphisms, dysgraphia, behavioral traits relatable to oppositional defiant, autism spectrum, and attention deficit hyperactivity disorders, a single seizure episode, and a neuroimaging finding of a single cerebellar heterotopic nodule, never described to date in this genetic condition. These findings expand the phenotypic spectrum of this syndrome, highlighting the potential role for <jats:italic>KDM6B<\/jats:italic> in cerebellar development and providing valuable insights for genetic counseling.<\/jats:p>","DOI":"10.1002\/ajmg.a.63555","type":"journal-article","created":{"date-parts":[[2024,2,8]],"date-time":"2024-02-08T04:28:57Z","timestamp":1707366537000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Cerebellar heterotopia in an 11\u2010year\u2010old child with <scp><i>KDM6B<\/i><\/scp>\u2010related neurodevelopmental disorder: A case report and review of the literature"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3795-1972","authenticated-orcid":false,"given":"Davide","family":"Politano","sequence":"first","affiliation":[{"name":"Department of Brain and Behavior Neuroscience University of Pavia  Pavia Italy"},{"name":"Child Neurology and Psychiatry 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