Conditions / Syndrome
Klippel-Feil syndrome 3
info · Syndrome
A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13.
Signs and symptoms
- Cervical C6/C7 vertebrae fusion
- Iris coloboma
- Cervical C3/C4 vertebral fusion
- Thoracic scoliosis
- Cervical C5/C6 vertebrae fusion
- Chorioretinal coloboma