Joubert syndrome 25

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.

Also known as CEP104 Joubert syndrome, JBTS25, Joubert syndrome 25, Joubert syndrome caused by mutation in CEP104, Joubert syndrome type 25 — per MONDO

Also identified as

• DOID 0110994 per MONDO
• OMIM 616781 per MONDO
• UMLS C4084842 per MONDO