Term Name: | Joubert syndrome 2 |
---|---|
Synonyms: | cerebellooculorenal syndrome 2, CORS2, JBTS2 |
Definition: | A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. |
Ontology: | Human Disease [DOID:0110988] ( DOID:0110988 ) |