Joubert syndrome 9

Term ID

DOID:0111004

Synonyms

• JBTS9

Definition

A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. https://www.ncbi.nlm.nih.gov/pubmed/18387594

References

• MESH:C567364
• OMIM:612285

Ontology

Human Disease   ( DOID:0111004 )