Human genes for sepiapterin reductase deficiency
Sepiapterin reductase deficiency [DOID:0111168]
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.
Synonyms: sepiapterin reductase deficiency, DOID:0111168, sepiapterin reductase deficiencies, dopa-responsive dystonia due to sepiapterin reductase deficiency, DRD due to SRD ...