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Thus far, over 50 individuals have been reported worldwide, however phenotypic characterization and data regarding the natural history are still incomplete. Here we report the clinical features of 22 individuals with 21 unique loss of function <jats:italic>POGZ<\/jats:italic> variants. We observed a broad spectrum of intellectual disability and\/or developmental delay with or without autism, and speech delay in all individuals. Other common problems included ocular abnormalities, hearing loss and gait abnormalities. A validated sleep disordered breathing questionnaire identified symptoms of obstructive sleep apnea in 4\/12 (33%) individuals. A higher\u2010than\u2010expected proportion of cases also had gastrointestinal phenotypes, both functional and anatomical, as well as genitourinary anomalies. In line with previous publications, we observed an increased body mass index (BMI) z\u2010score compared to the general population (mean 0.59, median 0.9; <jats:italic>p<\/jats:italic> 0.0253). Common facial features included microcephaly, broad forehead, midface hypoplasia, triangular mouth, broad nasal root and flat nasal bridge. Analysis of the Baylor Genetics clinical laboratory database revealed that <jats:italic>POGZ<\/jats:italic> variants were implicated in approximately 0.14% of cases who underwent clinical exome sequencing for neurological indications with or without involvement of other body systems. This study describes a greater allelic series and expands the phenotypic spectrum of this new syndromic form of intellectual disability and autism.<\/jats:p>","DOI":"10.1002\/ajmg.a.61380","type":"journal-article","created":{"date-parts":[[2019,11,29]],"date-time":"2019-11-29T13:29:29Z","timestamp":1575034169000},"page":"38-52","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":63,"title":["Phenotypic expansion of <i>POGZ<\/i>\u2010related intellectual disability syndrome (White\u2010Sutton syndrome)"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8018-226X","authenticated-orcid":false,"given":"Nurit","family":"Assia Batzir","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4814-6765","authenticated-orcid":false,"given":"Jennifer E.","family":"Posey","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofei","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep Coban","family":"Akdemir","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chester W.","family":"Brown","sequence":"additional","affiliation":[{"name":"Le Bonheur Children's Hospital  Memphis Tennessee"},{"name":"Division of Medical Genetics, Department of Pediatrics University of Tennessee Health Science Center  Memphis Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Genetics Kaiser Permanente  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon G.","family":"Holtrop","sequence":"additional","affiliation":[{"name":"Le Bonheur Children's Hospital  Memphis Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Mizerik","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarita","family":"Nieto Moreno","sequence":"additional","affiliation":[{"name":"Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine University of Miami  Miami Florida"},{"name":"Jackson Memorial Hospital  Miami Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katelyn","family":"Payne","sequence":"additional","affiliation":[{"name":"Section of Child Neurology, Department of Neurology Indiana University School of Medicine  Indianapolis Indiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Raas\u2010Rothschild","sequence":"additional","affiliation":[{"name":"Institute of Rare Diseases &amp; Danek Gertner Institute of Human Genetics Sheba Medical Center  Tel\u2010Hashomer Israel"},{"name":"The Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Scott","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Great Ormond Street Hospital for Children NHS Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9940-9866","authenticated-orcid":false,"given":"Hilary J.","family":"Vernon","sequence":"additional","affiliation":[{"name":"Division of Neurogenetics, Department of Neurology Kennedy Krieger Institute and Johns Hopkins University School of Medicine  Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neda","family":"Zadeh","sequence":"additional","affiliation":[{"name":"Genetics Center  Orange California"},{"name":"Division of Medical Genetics Children's Hospital of Orange County  Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Baylor\u2010Hopkins Center for Mendelian Genomics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"},{"name":"Department of Pediatrics Baylor College of Medicine  Houston Texas"},{"name":"Human Genome Sequencing Center Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. 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