Joubert syndrome 26

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene.

Also known as JBTS26, Joubert syndrome 26, Joubert syndrome caused by mutation in KIAA0556, Joubert syndrome type 26, KIAA0556 Joubert syndrome — per MONDO

Also identified as

• DOID 0110995 per MONDO
• OMIM 616784 per MONDO
• UMLS C4084843 per MONDO