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Klippel-Feil syndrome 1

Summary
Definition
A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.
Super Class
Klippel-Feil syndrome autosomal dominant disease
Disease Ontology
DOID:0080589
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
392255 GDF6 growth differentiation factor 6
Displaying 1 entry
Gene ID Gene Symbol Description Source
242316 Gdf6 growth differentiation factor 6
Displaying 1 entry
Gene ID Gene Symbol Description Source
252834 Gdf6 growth differentiation factor 6
Displaying all 2 entries
Gene ID Gene Symbol Description Source
30180 gdf6b growth differentiation factor 6b
566470 gdf6a growth differentiation factor 6a
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024