Waardenburg syndrome type 4B

Definition

A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.

Also known as EDN3 Waardenburg syndrome, Waardenburg syndrome caused by mutation in EDN3, Waardenburg syndrome type 4B, WS4B — per MONDO

Also identified as

• DOID 0110954 per MONDO
• MESH C567680 per MONDO
• OMIM 613265 per MONDO
• UMLS C2750457 per MONDO