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The patient with TMEM70 deficiency herein reported has the unique presentation of aortic root dilatation, differing facial dysmorphisms, and no history of neonatal metabolic decompensation or developmental delay, as well as a plasma metabolomics signature, including elevated 3\u2010methylglutaconic acid, 3\u2010methylglutarylcarnitine, alanine, and lactate, in addition to the commonly described increased 3\u2010methylglutaconic acid on urine organic acid analysis that helped aid in the diagnostic interpretation of variants of uncertain significance in <jats:italic>TMEM70<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.63131","type":"journal-article","created":{"date-parts":[[2023,2,8]],"date-time":"2023-02-08T07:04:40Z","timestamp":1675839880000},"page":"1366-1372","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel phenotype of aortic root dilatation and late\u2010onset metabolic decompensation in a patient 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