Frontometaphyseal dysplasia Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss. (Orphanet Rare Disease Ontology, Orphanet_1826)
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1 genes associated with the Frontometaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
FLNA filamin A, alpha