Joubert syndrome 6

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.

Also known as JBTS6, Joubert syndrome 6, Joubert syndrome caused by mutation in TMEM67, Joubert syndrome type 6, TMEM67 Joubert syndrome — per MONDO

Also identified as

• DOID 0111001 per MONDO
• MESH C537689 per MONDO
• OMIM 610688 per MONDO
• UMLS C1853153 per MONDO