Otofaciocervical syndrome 1

Definition

Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene.

Also known as EYA1 otofaciocervical syndrome, otofaciocervical syndrome 1, otofaciocervical syndrome caused by mutation in EYA1 — per MONDO

Also identified as

• OMIM 166780 per MONDO
• UMLS C3714941 per MONDO