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To date, 45 unique variants in\n                    <jats:italic>KDM5C<\/jats:italic>\n                    have been reported in individuals with ID. As a rare disorder, its etiology and natural history remain an area of active investigation, with treatment limited to symptom management. Previous studies have found that males present with moderate to severe ID with significant syndromic comorbidities such as epilepsy, short stature, and craniofacial abnormalities. Although not as well characterized, females have been reported to predominantly display mild to moderate ID with approximately half being asymptomatic. Here, we present caregiver\u2010reported data for 37 unrelated individuals with pathogenic variants in\n                    <jats:italic>KDM5C<\/jats:italic>\n                    ; the largest cohort reported to\u2010date. We find that up to 70% of affected females were reported to display syndromic features including gastrointestinal dysfunction and hearing impairment. Additionally, more than half of individuals reported a diagnosis of autism spectrum disorder or described features consistent with this spectrum. Our data thus provide further evidence of sexually dimorphic heterogeneity in disease presentation and suggest that pathogenic variants in\n                    <jats:italic>KDM5C<\/jats:italic>\n                    may be more common than previously assumed.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62381","type":"journal-article","created":{"date-parts":[[2021,6,5]],"date-time":"2021-06-05T01:35:04Z","timestamp":1622856904000},"page":"2951-2958","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Caregiver\u2010reported characteristics of children diagnosed with pathogenic variants in\n                    <scp>\n                      <i>KDM5C<\/i>\n                    <\/scp>"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5922-7291","authenticated-orcid":false,"given":"Hayden A. M.","family":"Hatch","sequence":"first","affiliation":[{"name":"Dominick P. Purpura Department of Neuroscience Albert Einstein College of Medicine  Bronx New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Molly H.","family":"O'Neil","sequence":"additional","affiliation":[{"name":"Rose F. Kennedy Children's Evaluation and Rehabilitation Center The Children's Hospital at Montefiore  Bronx New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert W.","family":"Marion","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine The Children's Hospital at Montefiore  Bronx New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5826-7547","authenticated-orcid":false,"given":"Julie","family":"Secombe","sequence":"additional","affiliation":[{"name":"Dominick P. Purpura Department of Neuroscience Albert Einstein College of Medicine  Bronx New York USA"},{"name":"Department of Genetics Albert Einstein College of Medicine  Bronx New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9832-1897","authenticated-orcid":false,"given":"Lisa H.","family":"Shulman","sequence":"additional","affiliation":[{"name":"Rose F. 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