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Entry | Name | Description | Category | Pathway | Gene |
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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |