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Joubert syndrome 1
Summary
- Synonym
-
- CORS1
- CPD4
- JBTS1
- cerebellooculorenal syndrome 1
- cerebelloparenchymal disorder IV
- Definition
- A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.
- Super Class
- Joubert syndrome
External Links
- Disease Ontology
- DOID:0110980
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15056 | Synaptojanin-2 | |
| O43426 | Synaptojanin-1 | |
| P32019 | Type II inositol 1,4,5-trisphosphate 5-phosphatase | |
| P54840 | Glycogen [starch] synthase, liver | |
| Q9NRR6 | Phosphatidylinositol polyphosphate 5-phosphatase type IV |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000158 | Macroglossia |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000286 | Epicanthus |
| HP:0000543 | Optic disc pallor |
| HP:0000556 | Retinal dystrophy |
| HP:0000567 | Chorioretinal coloboma |
| HP:0000570 | Abnormal saccadic eye movements |
| HP:0000588 | Optic disc coloboma |
| HP:0000617 | Abnormality of ocular smooth pursuit |
