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| Term | Joubert syndrome 17 | ID (Ontology) | DOID:0110986 (Human Disease) |
| Definition | A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. | ||
| Also Known As | "JBTS17" | ||
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ciliopathy_____ brain disease__| Joubert syndrome |__Joubert syndrome 17 |
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| Is a | Joubert syndrome | ||
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| MIM:614615 | |||