| Term Name: | Joubert syndrome 37 |
|---|---|
| Synonyms: | JBTS37 |
| Definition: | A Joubert syndrome that is characterized by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the TOGARAM1 gene on chromosome 14q21.2. |
| Ontology: | Human Disease [DOID:0061340] ( DOID:0061340 ) |