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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |