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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:0002553 | Highly arched eyebrow |
| HP:0001161 | Hand polydactyly |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0001252 | Hypotonia |
| HP:0000612 | Iris coloboma |
| HP:0002104 | Apnea |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0001250 | Seizure |
| HP:0002793 | Abnormal pattern of respiration |
| HP:0000486 | Strabismus |
