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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:0001829 | Foot polydactyly |
| HP:0000276 | Long face |
| HP:0001288 | Gait disturbance |
| HP:0002251 | Aganglionic megacolon |
| HP:0000657 | Oculomotor apraxia |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0000175 | Cleft palate |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000480 | Retinal coloboma |
