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In males, hemizygous partial loss of function variants in <jats:italic>USP9X<\/jats:italic> lead to a clinical phenotype primarily characterized by intellectual disability, hypotonia, speech and language impairment, behavioral disturbances accompanied by additional clinical features with variable expressivity. Structural brain abnormalities are reported in all cases where neuro\u2010imaging was performed. The most common radiological features described include hypoplasia\/agenesis of the corpus callosum, widened ventricles, white matter disturbances, and cerebellar hypoplasia. Here we report a child harboring a missense variant in <jats:italic>USP9X<\/jats:italic> presenting with the classical neurodevelopmental phenotype and a previously unreported radiological picture of periventricular heterotopia. This case expands the phenotypic landscape of this emergent condition and supports the critical role of <jats:italic>USP9X<\/jats:italic> in neuronal migration processes.<\/jats:p>","DOI":"10.1002\/ajmg.a.63123","type":"journal-article","created":{"date-parts":[[2023,1,21]],"date-time":"2023-01-21T11:39:49Z","timestamp":1674301189000},"page":"1350-1354","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Periventricular heterotopia in a male child with <scp><i>USP9X<\/i><\/scp> missense variant"],"prefix":"10.1002","volume":"191","author":[{"given":"Arianna","family":"De Laurentiis","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurosciences Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"},{"name":"University of Milan  Milan 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