|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes associated with the Glutaric aciduria, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.