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We describe seven unpublished probands with rare likely pathogenic variants or variants of uncertain significance that segregate with recessive disease in <jats:italic>TBC1D32<\/jats:italic>, including four fetal probands in three unrelated pedigrees and three pediatric probands in unrelated pedigrees. We also report clinical comparisons with seven previously published patients. Index probands were identified through an ongoing prenatal exome sequencing study and through an online data sharing platform (Gene Matcher\u2122). A literature review was also completed. <jats:italic>TBC1D32<\/jats:italic> is involved in the development and function of cilia and is expressed in the developing hypothalamus and pituitary gland. We provide additional data to expand the phenotype correlated with <jats:italic>TBC1D32<\/jats:italic> variants, including a severe prenatal phenotype associated with life\u2010limiting congenital anomalies.<\/jats:p>","DOI":"10.1002\/ajmg.a.63150","type":"journal-article","created":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T16:31:33Z","timestamp":1677256293000},"page":"1282-1292","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Diagnosis of <scp><i>TBC1D32<\/i><\/scp>\u2010associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5668-2782","authenticated-orcid":false,"given":"Sarah C.","family":"Harris","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Prisma Health University of South Carolina Greenville  Greenville South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Chong","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1944-7294","authenticated-orcid":false,"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly L.","family":"Gilmore","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology University of North Carolina School of Medicine  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2567-7360","authenticated-orcid":false,"given":"Alexander A. 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