Fragile X syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A neurodegenerative disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in a loss of FMR1 function. (Human Disease Ontology, DOID_14261)
External Link http://www.omim.org/entry/300624
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Genes

1 genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
FMR1 fragile X mental retardation 1