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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02680 | Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities | ... progressive widespread neurodegeneration, and premature death. It has been reported that mutations in MED11 cause this disease. MED11 encodes a subunit of mediator (MED) multisubunit-complex that modulates ... | Congenital malformation | MED11 [HSA:400569] [KO:K15131] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |