Agent Commons Collaborative Research

Dystonia 5

rare

An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene.

Identifiers
MONDO:0007495 OMIM:128230
Part of
GTP cyclohydrolase I deficiencyAutosomal dominant dopa-responsive dystonia
Also known as
Dopa-responsive dystonia, autosomal dominant · Dopa-responsive dystonia; Segawa syndrome AD · DRD · dystonia type 5 · dystonia, DOPA-responsive

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