DISEASES

Disease-gene associations mined from literature

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 ...