|OBO ID: DOID:0070341|
|Term Name:||neonatal-onset type II citrullinemia||Search 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. https://www.omim.org/entry/605814|
|Ontology:||Human Disease (DOID:0070341)|
|is a type of:||
OTHER neonatal-onset type II citrullinemia PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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