Joubert syndrome 1

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.

Also known as cerebellooculorenal syndrome 1, CORS1, CPD4, INPP5E Joubert syndrome, JBTS1, Joubert syndrome 1, Joubert syndrome caused by mutation in INPP5E, Joubert syndrome type 1 — per MONDO

Also identified as

• DOID 0110980 per MONDO
• OMIM 213300 per MONDO
• UMLS C4551568 per MONDO