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

• MIM:605814

Ontology

Human Disease   ( DOID:0070341 )