RS41298442 GCH1
Upload your DNA to see your genotype for this variant.
What This Variant Does
"Also known as c.671A>
Associated Conditions
Dystonia 5
GTP cyclohydrolase I deficiency
Dopa-responsive dystonia
Dystonia
dopa-responsive
with or without hyperphenylalaninemia
autosomal recessive
Inborn genetic diseases
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Dystonia 5
GTP cyclohydrolase I deficiency
Dopa-responsive dystonia
Dystonia
dopa-responsive
with or without hyperphenylalaninemia
Other Variants in GCH1