|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients. (Orphanet Rare Disease Ontology, Orphanet_3008)|
|Downloads & Tools|
1 genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.