Joubert syndrome 27

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.

Also known as B9D1 Joubert syndrome, JBTS27, Joubert syndrome 27, Joubert syndrome caused by mutation in B9D1, Joubert syndrome type 27 — per MONDO

Also identified as

• DOID 0110996 per MONDO
• OMIM 617120 per MONDO
• UMLS C4310706 per MONDO