Joubert syndrome 23

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.

Also known as JBTS23, Joubert syndrome 23, Joubert syndrome caused by mutation in KIAA0586, Joubert syndrome type 23, KIAA0586 Joubert syndrome — per MONDO

Also identified as

• DOID 0110992 per MONDO
• OMIM 616490 per MONDO
• UMLS C4084822 per MONDO