{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T23:35:31Z","timestamp":1781566531793,"version":"3.54.5"},"reference-count":18,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,4,26]],"date-time":"2020-04-26T00:00:00Z","timestamp":1587859200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, a significant fraction of ID patients remains without a clinical diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods, results, and conclusions<\/jats:title><jats:p>Here, in a prospective study on a cohort of 21 families (trios) with a child presenting with ID of unknown etiology, we executed phenotype\u2010driven bioinformatic analysis method, PhenIX, utilizing targeted next\u2010generation sequencing (NGS) data and Human Phenotype Ontology (HPO)\u2010encoded phenotype data. This approach resulted in clinical diagnosis for eight individuals presenting with atypical manifestations of Rubinstein\u2013Taybi syndrome 2 (MIM 613684), Spastic Paraplegia 50 (MIM 612936), Wiedemann\u2013Steiner syndrome (MIM 605130), Cornelia de Lange syndrome 2 (MIM 300590), Cerebral creatine deficiency syndrome 1 (MIM 300352), Glass Syndrome (MIM 612313), Mental retardation, autosomal dominant 31 (MIM 616158), and Bosch\u2013Boonstra\u2013Schaaf optic atrophy syndrome (MIM 615722).<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1263","type":"journal-article","created":{"date-parts":[[2020,4,27]],"date-time":"2020-04-27T05:05:57Z","timestamp":1587963957000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["The phenotype\u2010driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes"],"prefix":"10.1002","volume":"8","author":[{"given":"Aleksandra","family":"Jezela\u2010Stanek","sequence":"first","affiliation":[{"name":"Department of Genetics and Clinical Immunology National Institute of Tuberculosis and Lung Diseases Warsaw Poland"},{"name":"Department of Medical Genetics The Children\u2019s Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u017cbieta","family":"Ciara","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children\u2019s Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Jurkiewicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children\u2019s Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzena","family":"Kucharczyk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children\u2019s Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"J\u0119drzejowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children\u2019s Memorial Health Institute Warsaw Poland"},{"name":"Mossakowski Medical Research Centre Neuromuscular Unit Polish Academy of Sciences Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystyna H.","family":"Chrzanowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children\u2019s Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Krajewska\u2010Walasek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children\u2019s Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3794-7623","authenticated-orcid":false,"given":"Tomasz","family":"\u017bemojtel","sequence":"additional","affiliation":[{"name":"Genomics Platform Berlin Institute of Health Berlin Germany"},{"name":"Institute of Bioorganic Chemistry Polish Academy of Sciences Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13254"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.280"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.137"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37940"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13394"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100566\u20102"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11825\u2010018\u20100209\u2010z"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1039"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20515"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2011.01713.x"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0006568"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2015.124"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.07.005"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36883"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3241"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3009262"}],"container-title":["Molecular Genetics &amp; 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