Disease: Leukoencephalopathy With Metaphyseal Chondrodysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970840
Disease: Leukoencephalopathy With Metaphyseal Chondrodysplasia
Leukoencephalopathy With Metaphyseal Chondrodysplasia 		0.300 GermlineCausalMutation disease ORPHANET Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. 27102849 2017