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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H5K3 | Protein O-mannose kinase | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9NRR6 | Phosphatidylinositol polyphosphate 5-phosphatase type IV | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
