Human genes for Joubert syndrome 2
Joubert syndrome 2 [DOID:0110988]
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.
Synonyms: Joubert syndrome 2, DOID:0110988, cerebellooculorenal syndrome 2, CORS2, JBTS2