Joubert syndrome DOID:0050777 ICD10CM:Q04.3 JBTS GARD:6802 2013-04-04T11:25:32Z OMIM:PS213300 A ciliopathy that 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. Xref MGI. ORDO:475 disease_ontology lschriml ciliopathy brain disease