Search Ontology:
Human Disease

Joubert syndrome

Term ID
DOID:0050777
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. (2)
References
Ontology
Human Disease   ( DOID:0050777 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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