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Joubert syndrome 7
Summary
- Synonym
-
- JBTS7
- Definition
- A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2.
- Super Class
- Joubert syndrome
External Links
- Disease Ontology
- DOID:0111002
- Mondo Disease Ontology
- MeSH
- MGI genotype (from TogoID)
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q68CZ1 | Protein fantom |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001251 | Ataxia |
| HP:0002876 | Episodic tachypnea |
| HP:0000508 | Ptosis |
| HP:0002084 | Encephalocele |
| HP:0000369 | Low-set ears |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis |
| HP:0000238 | Hydrocephalus |
| HP:0001696 | Situs inversus totalis |
