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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02457 | Developmental delay, leukoencephalopathy, and neurologic decompensation | ... decompensation is an autosomal dominant neurodevelopmental syndrome caused by missense mutations in EIF2AK1 and EIF2AK2. They encode members of the eIF-2-alpha kinase family that inhibits protein synthesis ... | Nervous system disease |
(LEMSPAD) EIF2AK1 [HSA:27102] [KO:K16194] (LEUDEN) EIF2AK2 [HSA:5610] [KO:K16195] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |