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Heterozygous pathogenic variants of <jats:italic>NFIB<\/jats:italic> have recently been associated with developmental delay and mild\u2010to\u2010moderate intellectual disability, macrocephaly, nonspecific facial dysmorphisms, and corpus callosum dysgenesis. We identified a heterozygous missense variant in the <jats:italic>NFIB<\/jats:italic> gene in a 15\u2010year\u2010old boy with neurodevelopmental disorder and brain malformations, who inherited the variant from his substantially healthy mother presenting only minor physical and neuroanatomical defects.<\/jats:p>","DOI":"10.1002\/ajmg.a.63138","type":"journal-article","created":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T09:45:50Z","timestamp":1675935950000},"page":"1395-1400","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Marked intrafamilial variability of clinical and neuroimaging manifestations in <i>NFIB<\/i>\u2010related developmental disorder"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6544-7135","authenticated-orcid":false,"given":"Simone","family":"Gana","sequence":"first","affiliation":[{"name":"Neurogenetics Research Center IRCCS Mondino Foundation  Pavia 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