Table 3.

Phenotypic criteria for EYA1 testing in BOR syndrome [15]

Major criteria	Minor criteria
Branchial anomalies	External ear anomalies
Deafness	Middle ear anomalies
Preauricular pits	Inner ear anomalies
Renal anomalies	Preauricular tags
	Other: facial asymmetry, palate abnormalities
	Screening for EYA1 mutations is appropriate
	in those with:
	1. At least three major findings
	2. Two major findings and at least two
	minor findings
	3. At least one major finding and an affected
	first-degree relative with BOR syndrome