sepiapterin reductase deficiency (DOID:0111168)
Alliance: disease page
Synonyms: dopa-responsive dystonia due to sepiapterin reductase deficiency; DRD due to SRD; SPR deficiency; SRD
Alt IDs: OMIM:612716, MESH:C562657, ORDO:70594, UMLS_CUI:C0268468
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.