Auriculocondylar syndrome 2

Definition

Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.

Also known as Auriculocondylar syndrome 2, auriculocondylar syndrome caused by mutation in PLCB4, Auriculocondylar syndrome type 2, PLCB4 auriculocondylar syndrome — per MONDO

Also identified as

• OMIM 614669 per MONDO
• UMLS C3553404 per MONDO