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We report on a 60\u2010year\u2010old female of Venezuelan descent who presented with congenital ichthyosis, progressive sensorineural hearing loss, and liver cirrhosis. We identify a heterozygous copy number deletion involving exon 1 and another heterozygous deletion involving exon 3 of the <jats:italic>ABHD5<\/jats:italic> gene. Exon 2 is preserved. Both deletions were confirmed with RT\u2010PCR. RNAseq from peripheral blood shows a reduction of <jats:italic>ABHD5<\/jats:italic> expression overall and an absence of exon 3 expression, confirming the deleterious effects of the identified deletions. We present exonic deletions as a potentially common type of <jats:italic>ABHD5<\/jats:italic> variation.<\/jats:p>","DOI":"10.1002\/ajmg.a.63481","type":"journal-article","created":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T12:06:27Z","timestamp":1700568387000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Two novel heterozygous exonic deletions lead to Chanarin\u2013Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-5762-8425","authenticated-orcid":false,"given":"Sofia","family":"Zoullas","sequence":"first","affiliation":[{"name":"Dr. John T. 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