Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive

MONDO:0100098

A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia.

0 clinical trials for this condition and its sub-types, 0 tagged with Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive itself.

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↑ Hereditary neurological disease (5772) ↑ Dopa-responsive dystonia (2) ↑ GTP cyclohydrolase I deficiency (1)

Including sub-types (0) Tagged with Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive (0)

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