Joubert syndrome 14

Definition

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.

Also known as JBTS14, Joubert syndrome 14, Joubert syndrome caused by mutation in TMEM237, Joubert syndrome type 14, TMEM237 Joubert syndrome — per MONDO

Also identified as

• DOID 0110983 per MONDO
• OMIM 614424 per MONDO
• UMLS C3280766 per MONDO