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Joubert syndrome 25
Summary
- Synonym
-
- JBTS25
- Definition
- A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36.
- Super Class
- Joubert syndrome
External Links
- Disease Ontology
- DOID:0110994
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000463 | Anteverted nares |
| HP:0002650 | Scoliosis |
| HP:0001249 | Intellectual disability |
| HP:0004422 | Biparietal narrowing |
| HP:0001263 | Global developmental delay |
| HP:0000639 | Nystagmus |
| HP:0002126 | Polymicrogyria |
| HP:0000202 | Orofacial cleft |
| HP:0001288 | Gait disturbance |
| HP:0000276 | Long face |
