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Human Disease
Joubert syndrome
- Term ID
- DOID:0050777
- Synonyms
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- 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
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- GARD:6802
- ICD10CM:Q04.3
- MIM:PS213300
- ORDO:475
- Ontology
- Human Disease ( DOID:0050777 )
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Genes Involved
Zebrafish Models