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In humans <jats:italic>FOXP1<\/jats:italic> mutations have been associated with language and speech defects, intellectual disability, autism spectrum disorder, facial dysmorphisms, and congenital anomalies of the kidney and urinary tract. In mice, Foxp1 plays critical roles in development of the spinal motor neurons, lymphocytes, cardiomyocytes, foregut, and skeleton. We hypothesized therefore that mutations of <jats:italic>FOXP1<\/jats:italic> affect additional tissues in some humans. Supporting this hypothesis, we describe two individuals with novel variants of <jats:italic>FOXP1<\/jats:italic> (NM_032682.5:c.975\u20102A&gt;C and NM_032682.5:c.1574G&gt;A) and additional features. One had a lung disease resembling neuroendocrine cell hyperplasia of infancy (NEHI), and the second had a skeletal disorder with undertubulation of the long bones and relapsing\u2010remitting fevers associated with flushing and edema. Although attribution of these traits to mutation of <jats:italic>FOXP1<\/jats:italic> requires ascertainment of additional patients, we hypothesize that the variable expression of these additional features might arise by means of stochastic developmental variation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38462","type":"journal-article","created":{"date-parts":[[2017,9,8]],"date-time":"2017-09-08T10:55:37Z","timestamp":1504868137000},"page":"3172-3181","source":"Crossref","is-referenced-by-count":32,"title":["FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?"],"prefix":"10.1002","volume":"173","author":[{"given":"Angela","family":"Myers","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of South Dakota and Sanford Health Sioux Falls South Dakota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christ\u00e8le","family":"du Souich","sequence":"additional","affiliation":[{"name":"Department of Medical 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