QDPR, quinoid dihydropteridine reductase, 5860

N. diseases: 45; N. variants: 16
Disease: Keratomalacia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152455
Disease: Keratomalacia
Keratomalacia 		0.010 GeneticVariation disease BEFREE Two unusual cases were observed in the context of inadequate treatment in 1 and delayed therapy in the other: a newborn with PKU developed severe keratomalacia; and a 5-year-old girl with dihydropteridine reductase deficiency due to a novel mutation identified in the quinoid dihydropteridine reductase gene developed Lennox-Gastaut syndrome and white matter changes with periventricular cysts. 20823030 2011