has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of SPR sepiapterin reductase (NADP+) activity dopa-responsive dystonia due to sepiapterin reductase deficiency https://www.malacards.org/card/dystonia_dopa_responsive_due_to_sepiapterin_reductase_deficiency OMIM:612716 SCTID:45116002 dystonia, DOPA-responsive, due to sepiapterin reductase deficiency DOID:0111168 Orphanet:70594 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. MEDGEN:120642 NANDO:1200982 DRD due to SRD SRD autosomal recessive sepiapterin reductase-deficient DRD Sepiapterin Reductase Deficiency SPR deficiency ICD9:277.89 UMLS:C0268468 NORD:1885 DYT-SPR MESH:C562657 sepiapterin reductase deficiency MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency GARD:0010365 dopa-responsive dystonia inherited dystonia tetrahydrobiopterin metabolic process disease