| Approved symbol | PTS |
|---|---|
| Approved name | 6-pyruvoyltetrahydropterin synthase |
| HGCN ID | HGNC:9689 |
| Previous symbols | |
| Inheritance | |
| OMIM | 612719 |
| Chromosome | 11q23.1 |
| Panel(s) |
NGS Intellectual disability NGS Mendeliome NGS Movement disorders NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders |
