| Term Name: | Joubert syndrome 36 |
|---|---|
| Synonyms: | JBTS36 |
| Definition: | A Joubert syndrome that is characterized by global developmental delay, ocular movement abnormalities, and mesoaxial polydactyly and that has_material_basis_in homozygous mutation in the FAM149B1 gene on chromosome 10q22.2. |
| Ontology: | Human Disease [DOID:0061338] ( DOID:0061338 ) |