|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||A muscle tissue disease characterized by congenital joint contractures of hand and feet. (Human Disease Ontology, DOID_0050646)|
|Downloads & Tools|
1 genes associated with the Freeman-Sheldon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|MYH3||myosin, heavy chain 3, skeletal muscle, embryonic|