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Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems, particularly progressive involvement of the retina, kidney, and liver. JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.g., geneticists, neurologists, developmental pediatricians, ophthalmologists, nephrologists, hepatologists, psychiatrists, therapists, and educators). Expert recommendations can enable practitioners of all types to provide quality care to individuals with JS and know when to refer for subspecialty care. This need will only increase as precision treatments targeting specific genetic causes of JS emerge. The goal of these recommendations is to provide a resource for general practitioners, subspecialists, and families to maximize the health of individuals with JS throughout the lifespan.<\/jats:p>","DOI":"10.1002\/ajmg.a.61399","type":"journal-article","created":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T18:20:03Z","timestamp":1573496403000},"page":"229-249","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":110,"title":["Healthcare recommendations for Joubert syndrome"],"prefix":"10.1002","volume":"182","author":[{"given":"Ruxandra","family":"Bachmann\u2010Gagescu","sequence":"first","affiliation":[{"name":"Institute of Molecular Life Sciences University of Zurich  Zurich Switzerland"},{"name":"Institute of Medical Genetics University of Zurich  Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5937-5830","authenticated-orcid":false,"given":"Jennifer 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