Mondo Description Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.

Uniprot Description A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type.