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To date, only 11 individuals with NEDDFL due to de novo BPTF<\/jats:italic> variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF<\/jats:italic>, including four individuals with inherited changes in BPTF<\/jats:italic>. In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi\u2010faceted complications due to haploinsufficiency of BPTF<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.62102","type":"journal-article","created":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T07:03:18Z","timestamp":1612162998000},"page":"1366-1378","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Phenotypic expansion of the BPTF<\/i><\/scp>\u2010related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1854-7875","authenticated-orcid":false,"given":"Kevin E.","family":"Glinton","sequence":"first","affiliation":[{"name":"Department of Molecular & Human Genetics Baylor College of Medicine, One Baylor Plaza Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9765-9703","authenticated-orcid":false,"given":"Anna C. 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