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Entry Name Description Category Pathway Gene
H00878 Cystic leukoencephalopathy without megalencephaly ... temporal lobe cystic lesions and enlarged inferior horns combined with multifocal white matter alterations. Loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to this disorder. Inherited metabolic disorder RNASET2 [HSA:8635] [KO:K01166]
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