Waardenburg syndrome type 4C

Definition

A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10.

Also known as Waardenburg syndrome type 4C, WS4C — per MONDO

Also identified as

• DOID 0110955 per MONDO
• MESH C567679 per MONDO
• OMIM 613266 per MONDO
• UMLS C2750452 per MONDO