Joubert syndrome 20

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.

Also known as JBTS20, Joubert syndrome 20, Joubert syndrome caused by mutation in TMEM231, Joubert syndrome type 20, TMEM231 Joubert syndrome — per MONDO

Also identified as

• DOID 0110989 per MONDO
• OMIM 614970 per MONDO
• UMLS C3554235 per MONDO