RS200891969 GCH1
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What This Variant Does
"CLNSIG=4
Associated Conditions
Dopa-responsive dystonia
Dystonia 5
GTP cyclohydrolase I deficiency
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Intellectual disability
Dopa-responsive dystonia
Dystonia 5
GTP cyclohydrolase I deficiency
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Intellectual disability
Other Variants in GCH1