|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||Dopa responsive dystonia (DRD; see this term) 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. (Orphanet Rare Disease Ontology, Orphanet_70594)|
|Downloads & Tools|
1 genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|SPR||sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)|