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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.
Mondo Term and Equivalent IDs
MONDO:0013375:  Klippel-Feil syndrome 3, autosomal dominant
DOID:0080591: 
UMLS:C3150967: