Autosomal recessive dopa-responsive dystonia (Q64260)

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This is a rare recessively inherited movement disorder which usually manifests itself during early childhood. The characteristic clinical features are as in the parent category. It may be is due to a mutation in thetyrosine hydroxylase gene and has a more complex phenotype than GTP cyclohydrolase mutation. Oculogyric crises may occur.
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ID_1208668939
    English
    Autosomal recessive dopa-responsive dystonia
    This is a rare recessively inherited movement disorder which usually manifests itself during early childhood. The characteristic clinical features are as in the parent category. It may be is due to a mutation in thetyrosine hydroxylase gene and has a more complex phenotype than GTP cyclohydrolase mutation. Oculogyric crises may occur.

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      CID11:ID_1208668939
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      dki-india-ID_1208668939
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      Concluído
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      13 August 2026
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