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The proband had features of HFGS that included bilateral vesicoureteric junction obstruction with ectopic ureters, brachydactyly of various fingers and toes, hypoplastic thenar eminences, and absent nails on both 4th toes and right 5th toe. The atypical features of HFGS present were bilateral hallux valgus malformations and bilateral preaxial polydactyly of the hands. Chromosomal microarray analysis identified a de novo 0.5\u2009Mb deletion at 2p16.3, including the first four exons of the <jats:italic>NRXN1<\/jats:italic> gene. Whole exome sequencing and subsequent Sanger sequencing identified a de novo missense mutation (c.1123G&gt;T, p.Val375Phe) in exon 2 of the <jats:italic>HOXA13<\/jats:italic> gene, predicted to be damaging and located in the homeobox domain. The intragenic <jats:italic>NRXN1<\/jats:italic> deletion is thought to explain his developmental delay via a separate genetic mechanism. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37478","type":"journal-article","created":{"date-parts":[[2015,11,22]],"date-time":"2015-11-22T05:07:52Z","timestamp":1448168872000},"page":"717-724","source":"Crossref","is-referenced-by-count":10,"title":["Dual genetic diagnoses: Atypical hand\u2010foot\u2010genital syndrome and developmental delay due to de novo mutations in <i>HOXA13<\/i> and <i>NRXN1<\/i>"],"prefix":"10.1002","volume":"170","author":[{"given":"Mathew","family":"Wallis","sequence":"first","affiliation":[{"name":"Genetic Health Queensland Royal Brisbane and Women's Hospital Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University 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