van der Sluijs, Pleuntje J.Jansen, SandraVergano, Samantha A.Adachi-Fukuda, MihoAlanay, YaseminAlKindy, AdilaBaban, AnwarBayat, AllanBeck-Woedl, StefanieBerry, KatherineBijlsma, Emilia K.Bok, Levinus A.Brouwer, Alwin F. J.van der Burgt, InekeCampeau, Philippe M.Canham, NatalieChrzanowska, KrystynaChu, Yoyo W. Y.Chung, Brain H. Y.Dahan, KarinDe Rademaeker, MarjanDestree, AnneDudding-Byth, TracyEarl, RachelElcioglu, NurselElias, Ellen R.Fagerberg, ChristinaGardham, AliceGener, BlancaGerkes, Erica H.Grasshoff, Utevan Haeringen, ArieHeitink, Karin R.Herkert, Johanna C.den Hollander, Nicolette S.Horn, DeniseHunt, DavidKant, Sarina G.Kato, MitsuhiroKayserili, HulyaKersseboom, RogierKilic, EsraKrajewska-Walasek, MalgorzataLammers, KylinLaulund, Lone W.Lederer, DamienLees, MelissaLopez-Gonzalez, VanesaMaas, SaskiaMancini, Grazia M. S.Marcelis, CarloMartinez, FranciscoMaystadt, IsabelleMcGuire, MarianneMcKee, ShaneMehta, SarjuMetcalfe, KayMilunsky, JeffMizuno, SeijiMoeschler, John B.Netzer, ChristianOckeloen, Charlotte W.Oehl-Jaschkowitz, BarbaraOkamoto, NobuhikoOlminkhof, Sharon N. M.Orellana, CarmenPasquier, LaurentPottinger, CarolineRiehmer, VeraRobertson, Stephen P.Roifman, MaianRooryck, CarolineRopers, Fabienne G.Rosello, MonicaRuivenkamp, Claudia A. L.Sagiroglu, Mahmut S.Sallevelt, Suzanne C. E. H.Sanchis Calvo, AmparoSimsek-Kiper, Pelin O.Soares, GabrielaSolaeche, LuciaSonmez, Fatma MujganSplitt, MirandaSteenbeek, DucoStegmann, Alexander P. A.Stumpel, Constance T. R. M.Tanabe, SaoriUctepe, EyyupUtine, G. EdaVeenstra-Knol, Hermine E.Venkateswaran, SunitaVilain, CathelineVincent-Delorme, CatherineVulto-van Silfhout, Anneke T.Wheeler, PatriciaWilson, Golder N.Wilson, Louise C.Wollnik, BerndKosho, TomokiWieczorek, DagmarEichler, EvanPfundt, Rolphde Vries, Bert B. A.Clayton-Smith, JillSanten, Gijs W. E.2023-02-212023-02-212019-01-0110.1038/s41436-018-0330-zhttps://hdl.handle.net/11443/2883http://dx.doi.org/10.1038/s41436-018-0330-zPurpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1BCSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. Methods: Clinicians entered clinical data in an extensive webbased survey. Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. Conclusion: There are only minor differences between ARID1BID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features.ARID1BCoffin-Siris syndromeintellectual disabilitybiasArticleWOS:000470079700008