{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T05:46:55Z","timestamp":1789019215760,"version":"build-2803163510"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T00:00:00Z","timestamp":1761350400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T00:00:00Z","timestamp":1761350400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    O'Donnell\u2013Luria\u2013Rodan syndrome (ODLURO) is a rare disorder caused by a pathogenic variant in\n                    <jats:italic>KMT2E<\/jats:italic>\n                    and associated with intellectual disability. To date, the neurobehavioral phenotype of this disorder remains elusive. Here, we aimed to characterize the cognitive and behavioral profiles associated with ODLURO and compare the trends with those of other disorders associated with epigenetic regulation of gene expression at H3K4, Wiedemann\u2013Steiner syndrome (WDSTS) and Kabuki syndrome type 1 (KABUK1). Findings show prominent behavioral features in ODLURO include problems with anxiety (33%), attention (67%), and executive function (50%) (working memory, cognitive inflexibility), with similar severity ratings as WDSTS and KABUK1. Two\u2010thirds of participants were rated in the moderate\u2010to\u2010severe range in overall autism\u2010like behaviors on the SRS\u20102; however, study findings highlighted a pattern of most day\u2010to\u2010day difficulties in Restricted\/Repetitive Behaviors paired with relatively fewer challenges in Social Motivation, comparable to trends reported in WDSTS. Sleep disturbances are common in ODLURO (85%) and associated with behavior regulation difficulties, highlighting the importance of early screening\/intervention. In brief, ODLURO shares similarities in neurobehavioral functioning with other disorders of H3K4 modulation of gene expression, warranting further systematic research with cross\u2010syndrome comparisons to elucidate the relationship between epigenetic regulation and pathogenesis of neurodevelopmental disorders.\n                  <\/jats:p>","DOI":"10.1111\/cge.70090","type":"journal-article","created":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T07:36:42Z","timestamp":1761377802000},"page":"652-664","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Towards Characterizing the Developmental and Behavioral Profiles of\n                    <scp>ODLURO<\/scp>\n                    Syndrome: Shared Features With Wiedemann\u2013Steiner Syndrome and Kabuki Syndrome"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7193-4300","authenticated-orcid":false,"given":"Rowena","family":"Ng","sequence":"first","affiliation":[{"name":"Kennedy Krieger Institute  Baltimore Maryland USA"},{"name":"Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"O'Donnell\u2010Luria","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Department of Pediatrics Harvard Medical School  Boston Massachusetts USA"},{"name":"Program in Medical and Population Genetics Broad Institute of MIT and Harvard  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8465-2142","authenticated-orcid":false,"given":"Jacqueline","family":"Harris","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute  Baltimore Maryland USA"},{"name":"Department of Neurology Johns Hopkins University School of Medicine  Baltimore Maryland USA"},{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"},{"name":"Department of Pediatrics Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,10,25]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.03.021"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0040-1715629"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107470"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-022-03167-w"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.13100"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.1007046"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.950082"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63040"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/arclin\/acad060"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63351"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62921"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3009278"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.06.072"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3732-09.2010"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-017-2470-8"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtm.2021.02.011"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1355617722000467"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci11080966"},{"key":"e_1_2_9_20_1","volume-title":"ABAS\u20103: Adaptive behavior assessment system","author":"Harrison P. 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