RS104894434 GCH1
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What This Variant Does
"c.662T>
Associated Conditions
GTP cyclohydrolase I deficiency
Dystonia 5
Dystonia
dopa-responsive
with or without hyperphenylalaninemia
autosomal recessive
Intellectual disability
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
GTP cyclohydrolase I deficiency
Dystonia 5
Dystonia
dopa-responsive
with or without hyperphenylalaninemia
autosomal recessive
Intellectual disability
Other Variants in GCH1