Version: 8.0.0
Date: Tue Jan 28 2025
neonatal-onset type II citrullinemia
DOID:0070341
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

neonatal-onset type II 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.
Synonyms
  • neonatal-onset type 2 citrullinemia
Cross References
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