Marden-Walker syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly. (Orphanet Rare Disease Ontology, Orphanet_2461)
External Link http://www.omim.org/entry/248700
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Genes

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

Symbol Name
PIEZO2 piezo-type mechanosensitive ion channel component 2