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neonatal-onset type II citrullinemia
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease citrullinemia
External Links
- Disease Ontology
- DOID:0070341
- Mondo Disease Ontology
- OMIM
Related Genes
