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Entry Name Description Category Pathway Gene
H02587 Luo-Schoch-Yamamoto syndrome Luo-Schoch-Yamamoto syndrome (LUSYAM) is a novel neurodevelopmental disorder caused by mutations in RNF2. LUSYAM is characterized by global developmental delay, severe intellectual disabilities, behavioral ... Congenital malformation RNF2 [HSA:6045] [KO:K10695]
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