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DO Term : neonatal-onset type II citrullinemia [DOID:0070341] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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,
  • OMIM:605814,
  • 605814
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