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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02470 | Neurodevelopmental disorder with structural brain abnormalities | Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying ... | Congenital malformation |
(NDAGSCW) RAB11B [HSA:9230] [KO:K07905] (NEDBAVC) DHX37 [HSA:57647] [KO:K14780] (NEDCHS) INTS8 [HSA:55656] [KO:K13145] (NEDCAS) BRAT1 [HSA:221927] [KO:K23112] (NEDEHCC) LNPK [HSA:80856] [KO:K23292] (NEDBAS) DLL1 [HSA:28514] [KO:K06051] (NEDSBAS) WDR45B [HSA:56270] [KO:K22991] (NEDSWMA) HPDL [HSA:84842] [KO:K24788] (NEDVIBA) HK1 [HSA:3098] [KO:K00844] (NEDBA) MAPK8IP3 [HSA:23162] [KO:K04436] (NECFM) NACC1 [HSA:112939] [KO:K10486] (NEDMHM) ARHGEF2 [HSA:9181] [KO:K12791] (NEDBASS) PTPN23 [HSA:25930] [KO:K18040] (NEDABA) ODC1 [HSA:4953] [KO:K01581] (NEDESBA) TRAPPC4 [HSA:51399] [KO:K20303] (NEDASB) NOVA2 [HSA:4858] [KO:K14944] (NEDCAM) GEMIN5 [HSA:25929] [KO:K13133] (NEDSCAC) MED27 [HSA:9442] [KO:K15170] (NEDCASB) SHMT2 [HSA:6472] [KO:K00600] (NEDHSB) SPATA5 [HSA:166378] [KO:K14575] (NEDMLHB) TAF8 [HSA:129685] [KO:K14649] (NEDSSBA) NSRP1 [HSA:84081] [KO:K13206] (NEDMLOB) INTS11 [HSA:54973] [KO:K13148] (NEDMSB) PI4K2A [HSA:55361] [KO:K13711] |
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| H02535 | Neurodevelopmental disorder with dysmorphic facies | Neurodevelopmental disorder (NED) with dysmorphic facies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies. Several underlying genetic ... | Congenital malformation |
(NEDBAF) RAC3 [HSA:5881] [KO:K07861] (NEDFACH) EXOC2 [HSA:55770] [KO:K17637] (NEDDFAC) SUPT16H [HSA:11198] [KO:K25639] (NEDSID) SETD1A [HSA:9739] [KO:K11422] (NDCAGF) INTS1 [HSA:26173] [KO:K13138] (NECRC) ZMYM2 [HSA:7750] [KO:K24675] (NEDDFAS) EMC10 [HSA:284361] [KO:K23570] (NEDCAFD) TTC5 [HSA:91875] [KO:K24928] (NEDFASB) KAT5 [HSA:10524] [KO:K11304] (ODLURO) KMT2E [HSA:55904] [KO:K09189] (CFNDS) CCDC32 [HSA:90416] [KO:K27410] (CPPRDD) LRRC32 [HSA:2615] [KO:K26316] (HINCONS) RALA [HSA:5898] [KO:K07834] (ALKUS) SMG8 [HSA:55181] [KO:K18734] (NEDFLPH) TMEM147 [HSA:10430] [KO:K26498] (NEDGFAX) TCEAL1 [HSA:9338] [KO:K26769] (NEDGFC) FRA10AC1 [HSA:118924] [KO:K13121] (NEDFBA) SRSF1 [HSA:6426] [KO:K12890] (NEDLBF) UBAP2L [HSA:9898] [KO:K26545] (NEDGEF) ZNF668 [HSA:79759] [KO:K27106] (NEDITPO) SMG9 [HSA:56006] [KO:K18735] |
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