OBO ID: DOID:0050777
Term Name: Joubert syndrome Search Ontology:
Synonyms: JBTS
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. (3)
References: ICD10CM:Q04.3, OMIM:PS213300, ORDO:475
Ontology: Human Disease   (DOID:0050777)
is a type of:
has subtype:
OTHER Joubert syndrome PAGES
GENES INVOLVEDNo data available
PHENOTYPE No data available