dopa-responsive dystonia due to sepiapterin reductase deficiency
Dopa responsive dystonia (DRD) 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.
MONDO:0016812
dopa-responsive dystonia
is_a
MONDO:0044807
inherited dystonia
is_a
MONDO:0045014
tetrahydrobiopterin metabolic process disease
is_a
DRD due to SRD
exact
DYT-SPR
exact
SPR deficiency
exact
SRD
exact
Sepiapterin Reductase Deficiency
exact
autosomal recessive sepiapterin reductase-deficient DRD
exact
dopa-responsive dystonia due to sepiapterin reductase deficiency
exact
sepiapterin reductase deficiency
exact