DO_rare_slim disease has location Joubert syndrome DOID:0050777 ICD10CM:Q04.3 GARD:6802 2013-04-04T11:25:32Z 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. JBTS MIM:PS213300 ORDO:475 Xref MGI. disease_ontology ciliopathy brain disease brain