Otofaciocervical syndrome 2

Definition

Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.

Also known as otofaciocervical syndrome 2, otofaciocervical syndrome caused by mutation in PAX1, otofaciocervical syndrome type 2, PAX1 otofaciocervical syndrome — per MONDO

Also identified as

• OMIM 615560 per MONDO
• UMLS C5442121 per MONDO