Asparagine synthetase deficiency
An inborn error of asparagine biosynthesis that results in a severe neurologic disorder characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, cortical atrophy, and seizure or hyperekplexic activity.
| Name | Development Level | Target Family |
|---|
| Name | Description |
|---|
TCRDv4.6.9
UniProt Disease
UniProt Disease