Joubert syndrome 17

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.

Also known as CPLANE1 Joubert syndrome, JBTS17, Joubert syndrome 17, Joubert syndrome caused by mutation in CPLANE1, Joubert syndrome type 17 — per MONDO

Also identified as

• DOID 0110986 per MONDO
• NCIT C175702 per MONDO
• OMIM 614615 per MONDO
• UMLS C3553264 per MONDO