syndromic disease ciliopathy Joubert syndrome NCIT:C74996 icd11.foundation:1414756318 Joubert-Boltshauser syndrome Joubert syndrome GARD:0006802 UMLS:C5979921 cerebellar vermis agenesis Joubert syndrome type A SCTID:716997004 pure Joubert syndrome cerebelloparenchymal disorder IV classic Joubert syndrome NORD:1312 Orphanet:475 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. OMIMPS:213300 MEDGEN:1876534 MONDO:0018772 CPD IV DOID:0050777 obsolete malformation of the cerebellar vermis disorder of development or morphogenesis