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Typical manifestations include short stature, characteristic facies, and skeletal anomalies. Recessive inheritance has been associated with mutations in <jats:italic>ROR2<\/jats:italic> while dominant inheritance has been observed for mutations in <jats:italic>WNT5A<\/jats:italic>, <jats:italic>DVL1<\/jats:italic>, and <jats:italic>DVL3<\/jats:italic>. Through trio whole genome sequencing, we identified a homozygous frameshifting single nucleotide deletion in <jats:italic>WNT5A<\/jats:italic> in a previously reported, deceased infant with a unique constellation of features comprising a 46,XY disorder of sex development with multiple congenital malformations including congenital diaphragmatic hernia, ambiguous genitalia, dysmorphic facies, shortened long bones, adactyly, and ventricular septal defect. The parents, who are both heterozygous for the deletion, appear clinically unaffected. In conjunction with published observations of <jats:italic>Wnt5a<\/jats:italic> double knockout mice, we provide evidence for the possibility of autosomal recessive inheritance in association with <jats:italic>WNT5A<\/jats:italic> loss\u2010of\u2010function mutations in RS.<\/jats:p>","DOI":"10.1002\/ajmg.a.38636","type":"journal-article","created":{"date-parts":[[2018,4,6]],"date-time":"2018-04-06T03:36:53Z","timestamp":1522985813000},"page":"1030-1036","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Biallelic loss\u2010of\u2010function <i>WNT5A<\/i> mutations in an infant with severe and atypical manifestations of Robinow syndrome"],"prefix":"10.1002","volume":"176","author":[{"given":"Johannes","family":"Birgmeier","sequence":"first","affiliation":[{"name":"Department of Computer Science Stanford University, Stanford  California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9205-3756","authenticated-orcid":false,"given":"Edward D.","family":"Esplin","sequence":"additional","affiliation":[{"name":"Department of Genetics Stanford University School of Medicine, Stanford  California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karthik A.","family":"Jagadeesh","sequence":"additional","affiliation":[{"name":"Department of Computer Science Stanford University, Stanford  California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harendra","family":"Guturu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Stanford University School of Medicine, Stanford  California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaron M.","family":"Wenger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Stanford University School of Medicine, Stanford  California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan","family":"Chaib","sequence":"additional","affiliation":[{"name":"Department of Genetics Stanford University School of Medicine, Stanford  California"},{"name":"Stanford Center for Genomics and Personalized Medicine Stanford University, Stanford  California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia A.","family":"Buckingham","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Stanford University School of Medicine, Stanford  California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5179-3635","authenticated-orcid":false,"given":"Gill","family":"Bejerano","sequence":"additional","affiliation":[{"name":"Department of Computer Science Stanford University, Stanford  California"},{"name":"Department of Pediatrics Stanford University School of Medicine, Stanford  California"},{"name":"Department of Developmental Biology Stanford University, Stanford  California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan A.","family":"Bernstein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Stanford University School of Medicine, Stanford  California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,3,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10233"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/78107"},{"key":"e_1_2_7_5_1","volume-title":"GeneReviews(\u00ae)","author":"Bacino C.","year":"2011"},{"key":"e_1_2_7_6_1","unstructured":"Broad Institute Picard Tools. 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