craniofacial dysostosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. (Human Disease Ontology, DOID_2339)
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2 genes associated with the craniofacial dysostosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
EFTUD2 elongation factor Tu GTP binding domain containing 2
POLR1C polymerase (RNA) I polypeptide C, 30kDa