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. [ Orphanet:475 ]
Synonyms: cerebelloparenchymal disorder IV pure Joubert syndrome Joubert-Boltshauser syndrome classic Joubert syndrome JBTS Joubert syndrome type A Joubert syndrome CPD IV
Term information
- NCIT:C74996 (MONDO:equivalentTo)
- Orphanet:475 (MONDO:equivalentTo)
- DOID:0050777 (MONDO:equivalentTo)
- GARD:6802 (Orphanet:475)
- OMIMPS:213300 (MONDO:equivalentTo)
- SCTID:716997004 (MONDO:equivalentTo)
- NORD:1312 (MONDO:NORD)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
http://identifiers.org/snomedct/716997004
http://www.orpha.net/ORDO/Orphanet_475
https://omim.org/phenotypicSeries/PS213300
http://purl.obolibrary.org/obo/DOID_0050777
http://purl.obolibrary.org/obo/NCIT_C74996