|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|SF3B4||splicing factor 3b, subunit 4, 49kDa|