Approved symbol | PTS |
---|---|
Approved name | 6-pyruvoyltetrahydropterin synthase |
HGCN ID | HGNC:9689 |
Previous symbols | |
Inheritance | |
OMIM | 612719 |
Chromosome | 11q23.1 |
Panel(s) |
NGS Bewegingsstoornissen NGS Intellectual disability NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel (t.b.v. consanguine paren) |