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To date, biallelic variants of the <jats:italic>LZTFL1<\/jats:italic> gene have been reported only in six patients with BBS. We identified a homozygous <jats:italic>LZTFL1<\/jats:italic> nonsense variant in a boy presenting with classical BBS features. In addition, he showed a more pronounced cognitive impairment than previously reported subjects and severe short stature, matching the phenotype displayed by some other patients with <jats:italic>LZTFL1<\/jats:italic> variants and lztfl1 <jats:italic>knock\u2010out<\/jats:italic> mice. This case report contributes to a better understanding of the clinical spectrum associated with <jats:italic>LZTFL1<\/jats:italic> pathogenic variants, and highlights possible genotype\u2013phenotype correlations.<\/jats:p>","DOI":"10.1002\/ajmg.a.63723","type":"journal-article","created":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T12:59:51Z","timestamp":1716814791000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp><i>LZTFL1<\/i><\/scp>, a rare cause of Bardet\u2013Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6544-7135","authenticated-orcid":false,"given":"Simone","family":"Gana","sequence":"first","affiliation":[{"name":"Neurogenetics Research Center IRCCS Mondino Foundation  Pavia 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