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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
- 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 |
