Joubert syndrome 15

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.

Also known as CEP41 Joubert syndrome, JBTS15, Joubert syndrome 15, Joubert syndrome caused by mutation in CEP41, Joubert syndrome type 15 — per MONDO

Also identified as

• DOID 0110984 per MONDO
• OMIM 614464 per MONDO
• UMLS C3280897 per MONDO