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Joubert syndrome 9
Summary
- Synonym
-
- JBTS9
- Definition
- A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
- Super Class
- Joubert syndrome digenic disease
External Links
- Disease Ontology
- DOID:0111004
- Mondo Disease Ontology
- MeSH
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P2K1 | Coiled-coil and C2 domain-containing protein 2A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000639 | Nystagmus |
| HP:0001337 | Tremor |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis |
| HP:0001250 | Seizure |
| HP:0002084 | Encephalocele |
| HP:0000276 | Long face |
| HP:0001252 | Hypotonia |
| HP:0002650 | Scoliosis |
| HP:0002876 | Episodic tachypnea |
| HP:0000657 | Oculomotor apraxia |
