Joubert syndrome 18

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.

Also known as JBTS18, Joubert syndrome 18, Joubert syndrome caused by mutation in TCTN3, Joubert syndrome type 18, TCTN3 Joubert syndrome — per MONDO

Also identified as

• DOID 0110987 per MONDO
• OMIM 614815 per MONDO
• UMLS C3553758 per MONDO