Joubert syndrome 2 (DOID:0110988)
Alliance: disease page
Synonyms: cerebellooculorenal syndrome 2; CORS2; JBTS2
Alt IDs: OMIM:608091, MESH:C536294
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.