The main features linked to GDF6variants involve the skeleton, eyes, and, in some cases, the kidneys or urinary tract. Bone findings can include fused bones in the spine of the neck, in hands, or in feet, and anomalies in the ribs, shoulder or spine. Eye findings can include small eyes, anomalies in structures of the eye called coloboma, retinal disease, or glaucoma.
Some patients also have hearing difficulties. Not every patient with a GDF6variant has all of these findings, and some may have only one main anomaly.