Term Name:	sepiapterin reductase deficiency
Synonyms:	dopa-responsive dystonia due to sepiapterin reductase deficiency, DRD due to SRD, SPR deficiency, SRD
Definition:	A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.
Ontology:	Human Disease [DOID:0111168]   ( DOID:0111168 )