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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]
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[ KEGG | DISEASE | DRUG | MEDICUS ]