DPYSL5, dihydropyrimidinase like 5, 56896

N. diseases: 57; N. variants: 3
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		0.010 GeneticVariation phenotype BEFREE We describe a case of a 57-year-old woman with bilateral vision loss with the characteristic features of CRMP-5 PON including bilateral optic disc edema and vitreous cells. 27759576 2017