Nager syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects. (Orphanet Rare Disease Ontology, Orphanet_245)
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1 genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
SF3B4 splicing factor 3b, subunit 4, 49kDa