Disease: Leukoencephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.020 GeneticVariation group BEFREE Recently, the gene encoding mitochondrial tryptophanyl tRNA synthetase (WARS2) was reported to cause 2 different neurological phenotypes, a form of autosomal recessive intellectual disability and a syndrome of severe infantile-onset leukoencephalopathy. 29120065 2018
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.020 GeneticVariation group BEFREE Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, spastic quadriplegia, epilepsy, microcephaly, short stature, failure to thrive, cerebral atrophy, and periventricular white matter abnormalities. 28650581 2017