Joubert syndrome 9

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.

Also known as CC2D2A Joubert syndrome, JBTS9, Joubert syndrome 9, Joubert syndrome caused by mutation in CC2D2A, Joubert syndrome type 9 — per MONDO

Also identified as

• DOID 0111004 per MONDO
• MESH C567364 per MONDO
• NCIT C181002 per MONDO
• OMIM 612285 per MONDO
• UMLS C2676788 per MONDO