Term Name: | neonatal-onset type II citrullinemia |
---|---|
Synonyms: | neonatal intrahepatic cholestasis, neonatal-onset type 2 citrullinemia |
Definition: | A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene. |
Ontology: | Human Disease [DOID:0070341] ( DOID:0070341 ) |