Joubert syndrome

Summary
Synonym
  • 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.
Super Class
brain disease ciliopathy
External Links
Disease Ontology
DOID:0050777
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 31 in total
Gene ID Gene Symbol Description Source
412 STS steroid sulfatase
523 ATP6V1A ATPase H+ transporting V1 subunit A
1605 DAG1 dystroglycan 1
1718 DHCR24 24-dehydrocholesterol reductase
1743 DLST dihydrolipoamide S-succinyltransferase
2218 FKTN fukutin
2998 GYS2 glycogen synthase 2
3339 HSPG2 heparan sulfate proteoglycan 2
3633 INPP5B inositol polyphosphate-5-phosphatase B
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
39404 INPP5E Inositol polyphosphate 5-phosphatase E

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024