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Segawa syndrome (DOPA-responsive dystonia)
Genetics:
- autosomal dominant & autosomal recessive forms
Clinical manifestations:
- dystonia
Specific
autosomal recessive Segawa syndrome (autosomal recessive DOPA-responsive dystonia, includes: autosomal recessive infantile parkinsonism)
dystonia-5; autosomal-dominant dopa-responsive dystonia; progressive dystonia with diurnal fluctuation; autosomal dominant Segawa syndrome; dystonia-parkinsonism with diurnal fluctuation (DYT5)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 605407
References
OMIM :accession 605407