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Dopa-responsive dystonia due to sepiapterin reductase deficiency

rare

Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.

Identifiers
MONDO:0012994 OMIM:612716Orphanet:70594
Causal genes
SPR
Part of
Dopa-responsive dystoniaInherited dystoniaTetrahydrobiopterin metabolic process disease
Also known as
autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD · DYT-SPR · Sepiapterin Reductase Deficiency · SPR deficiency

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