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Haploinsufficiency of <jats:italic>RFX7<\/jats:italic> is associated with intellectual disability, developmental delay, and diverse malformations of brain structures. Currently, there are only 16 clinically described individuals who have variants in <jats:italic>RFX7<\/jats:italic>. A recognizable pattern of malformation associated with mutation in <jats:italic>RFX7<\/jats:italic> has not yet been uncovered. Here we describe the phenotypic presentation of two additional individuals who have novel <jats:italic>de novo<\/jats:italic> variants in <jats:italic>RFX7<\/jats:italic>. One of the individuals we describe is from an under\u2010represented Afro\u2010Caribbean population.<\/jats:p>","DOI":"10.1002\/ajmg.a.63816","type":"journal-article","created":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T09:34:45Z","timestamp":1721036085000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Expanding the clinical phenotype and variant spectrum associated with <scp><i>RFX7<\/i><\/scp>"],"prefix":"10.1002","volume":"194","author":[{"given":"Talia","family":"Sisroe","sequence":"first","affiliation":[{"name":"AU\/UGA Medical Partnership of the Medical College of Georgia University of Georgia Health Sciences Campus  Athens Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attila Dos","family":"Santos","sequence":"additional","affiliation":[{"name":"AU\/UGA Medical Partnership of the Medical College of Georgia University of Georgia Health Sciences Campus  Athens Georgia 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