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Summary Literature (0)
MIM:612716 - DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

Xenbase Genes: spr

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012994 - dopa-responsive dystonia due to sepiapterin reductase deficiency

Disease Ontology (DO):
DOID:0111168 - sepiapterin reductase deficiency