Rare Disease Library

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Segawa syndrome · DYT5a

Dopa-responsive dystonia

HPD with diurnal fluctuation · Hereditary progressive dystonia with diurnal fluctuation

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD

Dopamine beta-hydroxylase deficiency

DBH deficiency