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Human Disease

neonatal-onset type II citrullinemia

Term ID
DOID:0070341
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. https://www.omim.org/entry/605814
References
Ontology
Human Disease   ( DOID:0070341 )
Relationships
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Genes Involved
Zebrafish Models
Citations