Disease: Ophthalmoplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.110 GeneticVariation phenotype BEFREE Considering our findings, we now conclude that truncating mutations in C12ORF65 lead to a variable phenotype with intellectual disability, spastic paraplegia, and ophthalmoplegia as common symptoms. 24080142 2013
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.110 Biomarker phenotype HPO