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 )

Relationships
is a type of: Joubert syndrome