An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene.
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dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
MONDO:0100098
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
MONDO:0100186
intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
MONDO:0859257