Klippel-Feil syndrome 4

Summary
Definition
A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12.
Super Class
Klippel-Feil syndrome autosomal recessive disease
Disease Ontology
DOID:0080592
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84700 MYO18B myosin XVIIIB
Displaying 1 entry
Gene ID Gene Symbol Description Source
74376 Myo18b myosin XVIIIb

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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