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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:0002335 | Agenesis of cerebellar vermis |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0002419 | Molar tooth sign on MRI |
| HP:0002421 | Poor head control |
| HP:0002508 | Brainstem dysplasia |
| HP:0002790 | Neonatal breathing dysregulation |
| HP:0002871 | Central apnea |
| HP:0007271 | Occipital myelomeningocele |
| HP:0007772 | Impaired smooth pursuit |
| HP:0007973 | Retinal dysplasia |
