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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02460 | Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies | Neurodevelopmental disorder (NED) with dysmorphic facies and skeletal anomalies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies and ... | Congenital malformation |
(NEDDFSA) ZMIZ1 [HSA:57178] [KO:K22403] (NEDCFSA) KDM6B [HSA:23135] [KO:K11448] (NEDDFL) BPTF [HSA:2186] [KO:K11728] (NEDMIDF) SPOP [HSA:8405] [KO:K10523] (NEDJED) FBXW11 [HSA:23291] [KO:K03362] (SHAPNS) ASXL2 [HSA:55252] [KO:K11471] (OCNDS) CSNK2A1 [HSA:1457] [KO:K03097] (BURHAS) SIAH1 [HSA:6477] [KO:K04506] (DEGCAGS) ZNF699 [HSA:374879] [KO:K09228] (NEDCDS) HNRNPH1 [HSA:3187] [KO:K12898] (NEDFIH) NAE1 [HSA:8883] [KO:K04532] (NEDDFSB) HNRNPR [HSA:10236] [KO:K13161] (NEDFSS) TRPM3 [HSA:80036] [KO:K04978] (NEDSFF) DPH5 [HSA:51611] [KO:K00586] (MCAND) OTUD5 [HSA:55593] [KO:K12655] |
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