Joubert syndrome 28

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.

Also known as JBTS28, Joubert syndrome 28, Joubert syndrome caused by mutation in MKS1, Joubert syndrome type 28, MKS1 Joubert syndrome — per MONDO

Also identified as

• DOID 0110997 per MONDO
• OMIM 617121 per MONDO
• UMLS C4310705 per MONDO