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)
External Link http://www.omim.org/entry/231670
Similar Terms
Downloads & Tools

Genes

1 genes associated with the Glutaric aciduria, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
GCDH glutaryl-CoA dehydrogenase