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 11 - 20 of 31 in total
Gene ID Gene Symbol Description Source
6383 SDC2 syndecan 2
8867 SYNJ1 synaptojanin 1
8871 SYNJ2 synaptojanin 2
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2
Displaying 1 entry
Gene ID Gene Symbol Description Source
39404 INPP5E Inositol polyphosphate 5-phosphatase E

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Last updated: August 19, 2024