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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:0001829 | Foot polydactyly |
| HP:0000276 | Long face |
| HP:0001288 | Gait disturbance |
| HP:0002251 | Aganglionic megacolon |
| HP:0000657 | Oculomotor apraxia |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000107 | Renal cyst |
| HP:0000112 | Nephropathy |
