DISEASES

Disease-gene associations mined from literature

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,  CORS2,  JBTS2,  cerebellooculorenal syndrome 2