Conditions / Syndrome
branchiootorenal syndrome 2
info · Syndrome
A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32.
Signs and symptoms
- Renal dysplasia
- Preauricular skin tag
- Hearing impairment
- Hemifacial hypoplasia
- Renal insufficiency
Also known as: BOR2