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Entry Name Description Category Pathway Gene
H02651 Lessel-Kreienkamp syndrome Lessel-Kreienkamp syndrome (LESKRES) is a neurodevelopmental disorder caused by germline mutations in AGO2 that encodes a member of the Argonaute family of proteins. AGO2 and associated miRNAs form the RNA-induced ... Congenital malformation AGO2 [HSA:27161] [KO:K11593]
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