|Dopa-responsive dystonia (dominant) mutation|
||common in clinvar
||Dopa-responsive dystonia (dominant) mutation
||Dystonia (dopa-responsive) from homozygous GCH1 mutation
Dominant mutation with variable expression and reduced penetrance. Also possible predisposing/risk factor for Parkinson's disease. See main rs-page as well as GCH1 webpage for additional links.