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Recently, recessive loss\u2010of\u2010function (LoF) variants in <jats:italic>SEMA3A<\/jats:italic> (semaphorin 3A) have been shown to result in a recognizable syndrome characterized by short stature, skeletal abnormalities, congenital heart defects, and variable additional anomalies. Here, we describe the clinical and molecular characterization of a female patient presenting with skeletal dysplasia, hypogonadotropic hypogonadism (HH), and anosmia who harbors a nonsense variant c.1633C&gt;T (p.Arg555*) and a deletion of exons 15, 16, and 17 in <jats:italic>SEMA3A<\/jats:italic> in the compound heterozygous state. These variants were identified through next\u2010generation sequencing analysis of a panel of 26 genes known to be associated with HH\/Kallmann syndrome. Our findings further substantiate the notion that biallelic LoF <jats:italic>SEMA3A<\/jats:italic> variants cause a syndromic form of short stature and expand the phenotypic spectrum associated with this condition to include features of Kallmann syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.62023","type":"journal-article","created":{"date-parts":[[2020,12,24]],"date-time":"2020-12-24T15:20:55Z","timestamp":1608823255000},"page":"889-893","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Further delineation of a recognizable type of syndromic short stature caused by biallelic <scp><i>SEMA3A<\/i><\/scp> loss\u2010of\u2010function variants"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7793-8043","authenticated-orcid":false,"given":"Alexander F.","family":"Gileta","sequence":"first","affiliation":[{"name":"Department of Human Genetics The University of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria L.","family":"Helgeson","sequence":"additional","affiliation":[{"name":"Department of Human Genetics The University of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline M. 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