Glutaric aciduria, type 1 Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. (Orphanet Rare Disease Ontology, Orphanet_25)
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1 genes associated with the Glutaric aciduria, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
GCDH glutaryl-CoA dehydrogenase