Joubert syndrome 22

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.

Also known as JBTS22, Joubert syndrome 22, Joubert syndrome caused by mutation in PDE6D, Joubert syndrome type 22, PDE6D Joubert syndrome — per MONDO

Also identified as

• DOID 0110991 per MONDO
• OMIM 615665 per MONDO
• UMLS C3810278 per MONDO