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To date, two different homozygous <jats:italic>MNS1<\/jats:italic> variants have been associated with autosomal recessive visceral heterotaxy (MIM#618948). A French individual was identified with compound heterozygous variants in the <jats:italic>MNS1<\/jats:italic> gene. A collaborative call was proposed via GeneMatcher to describe new cases with this rare syndrome, leading to the identification of another family. The first patient was a female presenting complete situs inversus and unusual symptoms, including severe myopia and dental agenesis of 10 permanent teeth. She was found to carry compound heterozygous frameshift and nonsense variants in <jats:italic>MNS1<\/jats:italic>. The second and third patients were sibling fetuses with homozygous in\u2010frame deletion variants in <jats:italic>MNS1<\/jats:italic> and homozygous missense variants in <jats:italic>GLDN<\/jats:italic>. Autopsies revealed a complex prenatal malformation syndrome. We add here new cases with the ultra\u2010rare MNS1\u2010related disorder and provide a review of all published individuals.<\/jats:p>","DOI":"10.1002\/ajmg.a.63862","type":"journal-article","created":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T07:24:07Z","timestamp":1725521047000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Expanding <scp>MNS1<\/scp> Heterotaxy Phenotype"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-6744-5821","authenticated-orcid":false,"given":"Julien","family":"Maraval","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique, FHU\u2010TRANSLAD CHU Dijon Bourgogne, Centre de R\u00e9f\u00e9rence Maladies Rares Anomalies du D\u00e9veloppement et Syndromes Malformatifs  Dijon France"},{"name":"Inserm UMR1231 GAD Universit\u00e9 Bourgogne\u2010Franche Comt\u00e9  Dijon 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