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Joubert syndrome 26
Summary
- Synonym
-
- JBTS26
- Definition
- A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12.
- Super Class
- Joubert syndrome
External Links
- Disease Ontology
- DOID:0110995
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002251 | Aganglionic megacolon |
| HP:0000657 | Oculomotor apraxia |
| HP:0002793 | Abnormal pattern of respiration |
| HP:0001250 | Seizure |
| HP:0000486 | Strabismus |
| HP:0001829 | Foot polydactyly |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0001252 | Hypotonia |
| HP:0000612 | Iris coloboma |
| HP:0002104 | Apnea |
