Joubert syndrome 13

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene.

Also known as JBTS13, Joubert syndrome 13, Joubert syndrome caused by mutation in TCTN1, Joubert syndrome type 13, TCTN1 Joubert syndrome — per MONDO

Also identified as

• DOID 0110982 per MONDO
• OMIM 614173 per MONDO
• UMLS C3280031 per MONDO