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It is characterized by variable intellectual disability and\/or developmental delays, especially in language. Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), eye or vision problems, hypotonia, mild congenital hearth abnormalities and dysmorphisms have been described among individuals with <jats:italic>MED13<\/jats:italic> mutations. We report the case of a 13\u2010year\u2010old girl who received a previous clinical diagnosis of Kabuki syndrome (KS) without mutations in classic KS genes. After a whole exome sequencing (WES) analysis a de novo missense mutation in <jats:italic>MED13<\/jats:italic> (c.C979T; p.Pro327Ser) was found. This variant has been once described in literature as accountable for a novel neurodevelopmental disorder. The aim of this report is to improve clinical delineation of MED13\u2010related condition and to explore differences and similarities between KS spectrum and MED13\u2010related disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.61994","type":"journal-article","created":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T07:25:15Z","timestamp":1606807515000},"page":"584-590","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Could the <scp><i>MED13<\/i><\/scp> mutations manifest as a <scp>Kabuki<\/scp>\u2010like syndrome?"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8141-3389","authenticated-orcid":false,"given":"Laura","family":"De Nardi","sequence":"first","affiliation":[{"name":"University of Trieste  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavio","family":"Faletra","sequence":"additional","affiliation":[{"name":"Institute for Maternal and 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