Joubert syndrome 8

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene.

Also known as ARL13B Joubert syndrome, JBTS8, Joubert syndrome 8, Joubert syndrome caused by mutation in ARL13B, Joubert syndrome type 8 — per MONDO

Also identified as

• DOID 0111003 per MONDO
• MESH C567358 per MONDO
• OMIM 612291 per MONDO
• UMLS C2676771 per MONDO