Disease: Dominant hereditary optic atrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dominant hereditary optic atrophy
CUI: C4551508
Disease: Dominant hereditary optic atrophy
0.010 GeneticVariation BEFREE The clinical presentation looks like the autosomal dominant optic atrophy 'plus' phenotype linked to OPA1 mutations but is associated with a novel MFN2 missense mutation (c.629A>T, p.D210V). 22189565 2012