Joubert syndrome 24

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene.

Also known as JBTS24, Joubert syndrome 24, Joubert syndrome caused by mutation in TCTN2, Joubert syndrome type 24, TCTN2 Joubert syndrome — per MONDO

Also identified as

• DOID 0110993 per MONDO
• OMIM 616654 per MONDO
• UMLS C4084841 per MONDO