obsolete_Joubert syndrome true OMIM:618161 Replaced with Mondo term. MedDRA:10078574 OMIM:616781 Joubert-Boltshauser syndrome OMIM:616784 OMIM:614464 Cerebelloparenchymal disorder IV OMIM:614424 OMIM:615636 OMIM:614615 OMIM:617757 OMIM:213300 Classic Joubert syndrome OMIM:616490 OMIM:612291 OMIM:614173 OMIM:614175 OMIM:614970 OMIM:616654 orphanet Joubert syndrome type A OMIM:617767 OMIM:610688 OMIM:617622 3.41.0 OMIM:617761 Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Pure Joubert syndrome OMIM:617120 ICD10:Q04.3 CPD IV http://purl.obolibrary.org/obo/MONDO_0018772