Sepiapterin reductase deficiency Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.omim.org/entry/612716
Similar Terms
Downloads & Tools

Genes

1 genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)