| Term Name: | Joubert syndrome 24 |
|---|---|
| Synonyms: | JBTS24 |
| Definition: | A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. |
| Ontology: | Human Disease [DOID:0110993] ( DOID:0110993 ) |