|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. (Orphanet Rare Disease Ontology, Orphanet_1190)|
|Downloads & Tools|
1 genes associated with the Atelosteogenesis type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|FLNB||filamin B, beta|