| Metadata | |
|---|---|
| ID | DOID:0070341 |
| Name | 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. https://www.omim.org/entry/605814 |
| Xrefs | |
| Synonyms |
neonatal-onset type 2 citrullinemia [EXACT] |
| Parent Relationships |
is_a citrullinemia |