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It is caused by pathogenic variants in<jats:italic>ABCD4<\/jats:italic>, which encodes an ATP\u2010binding cassette (ABC) transporter that affects the lysosomal release of cobalamin (Cbl) into the cytoplasm. Only six cases of<jats:italic>CblJ<\/jats:italic>have been reported in the literature. Described clinical features include feeding difficulties, failure to thrive, hypotonia, seizures, developmental delay, and hematological abnormalities. Information on clinical outcomes is extremely limited, and no cases of presymptomatic diagnosis have been reported. We describe a now 17\u2010month\u2010old male with<jats:italic>CblJ<\/jats:italic>detected by newborn screening and confirmed by biochemical, molecular, and complementation studies. With early detection and initiation of treatment, this patient has remained asymptomatic with normal growth parameters and neurodevelopmental function. To the best of our knowledge, this report represents the first asymptomatic and neurotypical patient with<jats:italic>CblJ<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.62170","type":"journal-article","created":{"date-parts":[[2021,3,17]],"date-time":"2021-03-17T12:34:51Z","timestamp":1615984491000},"page":"1870-1874","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2943-2136","authenticated-orcid":false,"given":"Nishitha R.","family":"Pillai","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota 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