Pyruvate carboxylase deficiency Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.omim.org/entry/266150
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Genes

1 genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
PC pyruvate carboxylase