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Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23\u2010p22.3 containing <jats:italic>NFIB<\/jats:italic>. The first is a 7\u2010year 9\u2010month old boy with developmental delays, ID, definite facial anomalies, and brain and spinal cord magnetic resonance imaging findings including periventricular nodular heterotopia, hypoplasia of the corpus callosum, arachnoid cyst in the left middle cranial fossa, syringomyelia in the thoracic spinal cord and distal tract of the conus medullaris, and a stretched appearance of the filum terminale. The second is a 32\u2010year\u2010old lady (the proband' mother) with dysmorphic features, and a history of learning disability, hypothyroidism, poor growth, left inguinal hernia, and panic attacks. Her brain magnetic resonance imaging findings include a dysmorphic corpus callosum, and a small cyst in the left choroidal fissure that marks the hippocampal head. Array\u2010based comparative genomic hybridization identified, in both, a 232 Kb interstitial deletion at 9p23p22.3 including several exons of <jats:italic>NFIB<\/jats:italic> and no other known genes. Our two individuals add to the knowledge of this rare disorder through the addition of new brain and spinal cord MRI findings and dysmorphic features. We propose that <jats:italic>NFIB<\/jats:italic> haploinsufficiency causes a clinically recognizable malformation\u2010ID syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.63018","type":"journal-article","created":{"date-parts":[[2022,11,2]],"date-time":"2022-11-02T10:30:02Z","timestamp":1667385002000},"page":"540-545","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Further characterization of <scp><i>NFIB<\/i><\/scp>\u2010associated phenotypes: Report of two new individuals"],"prefix":"10.1002","volume":"191","author":[{"given":"Gemma","family":"Marinella","sequence":"first","affiliation":[{"name":"Department of Developmental Neuroscience IRCCS Stella Maris Foundation  Calambrone Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugenia","family":"Conti","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience IRCCS Stella Maris Foundation  Calambrone Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bianca","family":"Buchignani","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience IRCCS Stella Maris Foundation  Calambrone Pisa Italy"},{"name":"Department of Clinical and Experimental Medicine University of Pisa  Pisa Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giada","family":"Sgherri","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience IRCCS Stella Maris Foundation  Calambrone Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Pasquariello","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience IRCCS Stella Maris Foundation  Calambrone Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavio","family":"Giordano","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Children's Hospital A. 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