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Joubert syndrome 13
Summary
- Synonym
-
- JBTS13
- Definition
- A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.
- Super Class
- Joubert syndrome
External Links
- Disease Ontology
- DOID:0110982
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q2MV58 | Tectonic-1 |
- 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 |
