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

• GARD:10167
• MESH:C536294
• OMIM:608091

Ontology

Human Disease   ( DOID:0110988 )