MONDO_0012994 (dopa-responsive dystonia due to sepiapterin reductase deficiency) is 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. Also known as: DRD due to SRD, DYT-SPR, SPR deficiency, SRD, Sepiapterin Reductase Deficiency, autosomal recessive sepiapterin reductase-deficient DRD, sepiapterin reductase deficiency.