Arts syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. (Human Disease Ontology, DOID_0050647)
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1 genes associated with the Arts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
PRPS1 phosphoribosyl pyrophosphate synthetase 1