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Joubert syndrome 20
Summary
- Synonym
-
- JBTS20
- Definition
- A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.
- Super Class
- Joubert syndrome
External Links
- Disease Ontology
- DOID:0110989
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H6L2 | Transmembrane protein 231 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002553 | Highly arched eyebrow |
| HP:0001161 | Hand polydactyly |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0001252 | Hypotonia |
| HP:0000612 | Iris coloboma |
| HP:0002104 | Apnea |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0001250 | Seizure |
| HP:0002793 | Abnormal pattern of respiration |
| HP:0000486 | Strabismus |
