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Here, the index case is an 18-year-old boy, who at 14 years of age had a decline in cognitive functioning over the course of a year and subsequently presented with catatonia, auditory and visual hallucinations, paranoia, aggression, mood dysregulation, and disorganized thoughts. Exome sequencing revealed a stop-gain mutation in <jats:italic>RCL1<\/jats:italic> (NM_005772.4:c.370\u2009C\u2009&gt;\u2009T, p.Gln124Ter), encoding an RNA 3\u2032-terminal phosphate cyclase-like protein that is highly conserved across eukaryotic species. Subsequent investigations across two academic medical centers identified eleven additional cases of <jats:italic>RCL1<\/jats:italic> copy number variations (CNVs) with varying neurodevelopmental or psychiatric phenotypes. 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JGH holds equity in and is founding head of the scientific advisory board for Mightier\/Neuromotion Labs, a company making emotional regulation training video games, and has received consulting income from Alkermes, Inc., a pharmaceutical company. The remaining authors declare no competing financial interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Informed consent was obtained for the proband and family whose results are reported in this study. The study was approved by the Institutional Review Board of Boston Children\u2019s Hospital under protocol # 10-02-0053.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics"}}]}}