Visualize
Metadata
DOID DOID:0050777
Name Joubert syndrome
Definition 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.
http://en.wikipedia.org/wiki/Joubert_syndrome, http://omim.org/entry/213300?search=joubert&highlight=joubert, http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1022&Disease_Disease_Search_diseaseGroup=Joubert-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Joubert-syndrome--Joubert-Boltshauser-syndrome-&title=Joubert-syndrome--Joubert-Boltshauser-syndrome-&search=Disease_Search_Simple
Xrefs

ICD10CM:Q04.3

OMIM:PS213300

ORDO:475

Subsets

DO_rare_slim

Synonyms

JBTS [EXACT]

Relationships

is_a ciliopathy

Add an item to the term tracker