branchiootorenal syndrome 1

A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3.

Signs and symptoms

• Preauricular pit
• Branchial fistula
• Abnormal renal collecting system morphology
• Congenital hip dislocation
• Facial palsy
• Preauricular skin tag
• Abnormal cerebral morphology
• Renal steatosis
• Polycystic kidney dysplasia
• Renal malrotation

Also known as: BOR1