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

Uniprot Description A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability.