Citrullinemia type II Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma. (Orphanet Rare Disease Ontology, Orphanet_247585)
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1 genes associated with the Citrullinemia type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13