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Klippel-Feil syndrome 3, autosomal dominant
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 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.