Auriculocondylar syndrome 1

Definition

Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.

Also known as Auriculocondylar syndrome 1, auriculocondylar syndrome caused by mutation in GNAI3, Auriculocondylar syndrome type 1, GNAI3 auriculocondylar syndrome — per MONDO

Also identified as

• OMIM 602483 per MONDO
• UMLS C4551996 per MONDO