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It is characterized by severe infantile alveolar hypoventilation. Individuals may also have diffuse autonomic nervous system dysfunction, Hirschsprung disease and neural crest tumors. We report three individuals with CCHS due to an 8\u2010base pair duplication in <jats:italic>PHOX2B;<\/jats:italic> c.691_698dupGGCCCGGG (p.Gly234Alafs*78) with a predominant enteral and neural crest phenotype and a relatively mild respiratory phenotype. The attenuated respiratory phenotype reported here and elsewhere suggests an emergent genotype:phenotype correlation which challenges the current paradigm of invoking mechanical ventilation for all infants diagnosed with CCHS. Best treatment requires careful clinical judgment and ideally the assistance of a care team with expertise in CCHS.<\/jats:p>","DOI":"10.1002\/ajmg.a.38726","type":"journal-article","created":{"date-parts":[[2018,4,26]],"date-time":"2018-04-26T06:26:21Z","timestamp":1524723981000},"page":"1398-1404","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9971-1368","authenticated-orcid":false,"given":"Heather M.","family":"Byers","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Stanford University Palo Alto California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maida","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of 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