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Joubert syndrome 15
Summary
- Synonym
-
- JBTS15
- Definition
- A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32.
- Super Class
- Joubert syndrome digenic disease
External Links
- Disease Ontology
- DOID:0110984
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9BYV8 | Centrosomal protein of 41 kDa |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000556 | Retinal dystrophy |
| HP:0000572 | Visual loss |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001651 | Dextrocardia |
| HP:0002419 | Molar tooth sign on MRI |
| HP:0003468 | Abnormal vertebral morphology |
| HP:0011968 | Feeding difficulties |
