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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:0000426 | Prominent nasal bridge |
| HP:0001337 | Tremor |
| HP:0002553 | Highly arched eyebrow |
| HP:0001161 | Hand polydactyly |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0030680 | Abnormal cardiovascular system morphology |
