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Joubert syndrome 16
Summary
- Synonym
-
- JBTS16
- Definition
- A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q.
- Super Class
- Joubert syndrome
External Links
- Disease Ontology
- DOID:0110985
- 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:0001337 | Tremor |
| HP:0000426 | Prominent nasal bridge |
