Search Ontology:
Human Disease

Joubert syndrome 2

Term ID
DOID:0110988
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. (2)
References
Ontology
Human Disease   ( DOID:0110988 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models