Conditions / Syndrome
branchiootic syndrome 1
info · Syndrome
A branchiootic syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.
Signs and symptoms
- Preauricular pit
- Sensorineural hearing impairment
- Branchial fistula
- Microtia
- Cochlear malformation
- Hypoplasia of the cochlea
- Cupped ear
- Retrognathia
- Mixed hearing impairment
- Low-set ears