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Summary Literature (0)
DOID:0070341 - neonatal-onset type II citrullinemia


Disease Ontology 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.

Synonyms: neonatal-onset type 2 citrullinemia

In OMIM:
OMIM:605814 - CITRULLINEMIA, TYPE II, NEONATAL-ONSET


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : slc25a13

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), citrullinemia (is_a)