Waardenburg syndrome type 2E

Definition

Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.

Also known as SOX10 Waardenburg syndrome type 2, Waardenburg syndrome type 2 caused by mutation in SOX10, WS2E — per MONDO

Also identified as

• DOID 0110956 per MONDO
• OMIM 611584 per MONDO
• UMLS C2700405 per MONDO