Joubert syndrome 21

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.

Also known as CSPP1 Joubert syndrome, JBTS21, Joubert syndrome 21, Joubert syndrome caused by mutation in CSPP1, Joubert syndrome type 21 — per MONDO

Also identified as

• DOID 0110990 per MONDO
• OMIM 615636 per MONDO
• UMLS C3810212 per MONDO