Joubert syndrome 7

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.

Also known as JBTS7, Joubert syndrome 7, Joubert syndrome caused by mutation in RPGRIP1L, Joubert syndrome type 7, RPGRIP1L Joubert syndrome — per MONDO

Also identified as

• DOID 0111002 per MONDO
• MESH C566916 per MONDO
• NCIT C159653 per MONDO
• OMIM 611560 per MONDO
• UMLS C1969053 per MONDO