1p34.2
|
Developmental and epileptic encephalopathy 18
|
AR
|
3
|
615476
|
SZT2
|
615463
|
1p34.1
|
Developmental and epileptic encephalopathy 15
|
AR
|
3
|
615006
|
ST3GAL3
|
606494
|
1p32.3
|
Developmental and epileptic encephalopathy 75
|
AR
|
3
|
618437
|
PARS2
|
612036
|
1p31.3
|
Developmental and epileptic encephalopathy 23
|
AR
|
3
|
615859
|
DOCK7
|
615730
|
1p13.3
|
Developmental and epileptic encephalopathy 32
|
AD
|
3
|
616366
|
KCNA2
|
176262
|
1q21.2
|
Developmental and epileptic encephalopathy 113
|
|
3
|
620772
|
SV2A
|
185860
|
1q23.2
|
Developmental and epileptic encephalopathy 98
|
AD
|
3
|
619605
|
ATP1A2
|
182340
|
1q25.3
|
Developmental and epileptic encephalopathy 69
|
AD
|
3
|
618285
|
CACNA1E
|
601013
|
1q25.3
|
Developmental and epileptic encephalopathy 116
|
|
3
|
620806
|
GLUL
|
138290
|
1q31.3
|
Developmental and epileptic encephalopathy 57
|
AD
|
3
|
617771
|
KCNT2
|
610044
|
1q42.11
|
Developmental and epileptic encephalopathy 100
|
AD
|
3
|
619777
|
FBXO28
|
609100
|
1q42.2
|
Developmental and epileptic encephalopathy 38
|
AR
|
3
|
617020
|
ARV1
|
611647
|
1q44
|
Developmental and epileptic encephalopathy 54
|
AD
|
3
|
617391
|
HNRNPU
|
602869
|
2p23.3
|
Developmental and epileptic encephalopathy 50
|
AR
|
3
|
616457
|
CAD
|
114010
|
2p15
|
?Developmental and epileptic encephalopathy 88
|
AR
|
3
|
618959
|
MDH1
|
154200
|
2p15
|
Developmental and epileptic encephalopathy 83
|
AR
|
3
|
618744
|
UGP2
|
191760
|
2q24.3
|
Developmental and epileptic encephalopathy 62
|
AD
|
3
|
617938
|
SCN3A
|
182391
|
2q24.3
|
Developmental and epileptic encephalopathy 11
|
AD
|
3
|
613721
|
SCN2A
|
182390
|
2q24.3
|
Developmental and epileptic encephalopathy 6B, non-Dravet
|
AD
|
3
|
619317
|
SCN1A
|
182389
|
2q24.3
|
Dravet syndrome
|
AD
|
3
|
607208
|
SCN1A
|
182389
|
2q31.1
|
Developmental and epileptic encephalopathy 89
|
AR
|
3
|
619124
|
GAD1
|
605363
|
2q31.1
|
Developmental and epileptic encephalopathy 39
|
AR
|
3
|
612949
|
SLC25A12
|
603667
|
2q32.2
|
Developmental and epileptic encephalopathy 71
|
AR
|
3
|
618328
|
GLS
|
138280
|
3p22.1
|
Developmental and epileptic encephalopathy 68
|
AR
|
3
|
618201
|
TRAK1
|
608112
|
3p21.31
|
?Developmental and epileptic encephalopathy 86
|
AR
|
3
|
618910
|
DALRD3
|
618904
|
3p21.31
|
Developmental and epileptic encephalopathy 102
|
AR
|
3
|
619881
|
SLC38A3
|
604437
|
3q13.31
|
Developmental and epileptic encephalopathy 93
|
AD
|
3
|
618012
|
ATP6V1A
|
607027
|
3q22.1
|
Developmental and epileptic encephalopathy 44
|
AR
|
3
|
617132
|
UBA5
|
610552
|
3q25.1
|
Developmental and epileptic encephalopathy 73
|
AD
|
3
|
618379
|
RNF13
|
609247
|
3q28-q29
|
Developmental and epileptic encephalopathy 47
|
AD
|
3
|
617166
|
FGF12
|
601513
|
4p16.3
|
Developmental and epileptic encephalopathy 63
|
AR
|
3
|
617976
|
CPLX1
|
605032
|
4p14
|
Developmental and epileptic encephalopathy 84
|
AR
|
3
|
618792
|
UGDH
|
603370
|
4p12
|
?Developmental and epileptic encephalopathy 40
|
AR
|
3
|
617065
|
GUF1
|
617064
|
4p12
|
Developmental and epileptic encephalopathy 78
|
AD
|
3
|
618557
|
GABRA2
|
137140
|
4p12
|
Developmental and epileptic encephalopathy 45
|
AD
|
3
|
617153
|
GABRB1
|
137190
|
4q24
|
Developmental and epileptic encephalopathy 91
|
AD
|
3
|
617711
|
PPP3CA
|
114105
|
4q35.1
|
Developmental and epileptic encephalopathy 106
|
AR
|
3
|
620028
|
UFSP2
|
611482
|
5p12
|
Developmental and epileptic encephalopathy 24
|
AD
|
3
|
615871
|
HCN1
|
602780
|
5q33.3
|
Developmental and epileptic encephalopathy 65
|
AD
|
3
|
618008
|
CYFIP2
|
606323
|
5q34
|
Developmental and epileptic encephalopathy 92
|
AD
|
3
|
617829
|
GABRB2
|
600232
|
5q34
|
Developmental and epileptic encephalopathy 19
|
AD
|
3
|
615744
|
GABRA1
|
137160
|
5q34
|
Developmental and epileptic encephalopathy 74
|
AD
|
3
|
618396
|
GABRG2
|
137164
|
6p24.1
|
Developmental and epileptic encephalopathy 70
|
AD
|
3
|
618298
|
PHACTR1
|
608723
|
6p21.1
|
Developmental and epileptic encephalopathy 60
|
AR
|
3
|
617929
|
CNPY3
|
610774
|
6q21
|
Developmental and epileptic encephalopathy 87
|
AD
|
3
|
618916
|
CDK19
|
614720
|
7q11.23
|
Developmental and epileptic encephalopathy 51
|
AR
|
3
|
617339
|
MDH2
|
154100
|
7q11.23
|
Developmental and epileptic encephalopathy 56
|
AD
|
3
|
617665
|
YWHAG
|
605356
|
7q21.11
|
Developmental and epileptic encephalopathy 110
|
AR
|
3
|
620149
|
CACNA2
|
114204
|
7q21.12
|
Developmental and epileptic encephalopathy 61
|
AR
|
3
|
617933
|
ADAM22
|
603709
|
7q22.1
|
Developmental and epileptic encephalopathy 76
|
AR
|
3
|
618468
|
ACTL6B
|
612458
|
8p21.3
|
Developmental and epileptic encephalopathy 64
|
AD
|
3
|
618004
|
RHOBTB2
|
607352
|
9q21.33
|
Developmental and epileptic encephalopathy 58
|
AD
|
3
|
617830
|
NTRK2
|
600456
|
9q22.33
|
Developmental and epileptic encephalopathy 59
|
AD
|
3
|
617904
|
GABBR2
|
607340
|
9q31.3
|
Developmental and epileptic encephalopathy 37
|
AR
|
3
|
616981
|
FRRS1L
|
604574
|
9q34.11
|
Developmental and epileptic encephalopathy 4
|
AD, AR
|
3
|
612164
|
STXBP1
|
602926
|
9q34.11
|
Developmental and epileptic encephalopathy 31A, autosomal dominant
|
AD
|
3
|
616346
|
DNM1
|
602377
|
9q34.11
|
Developmental and epileptic encephalopathy 31B, autosomal recessive
|
AR
|
3
|
620352
|
DNM1
|
602377
|
9q34.11
|
Developmental and epileptic encephalopathy 5
|
AD
|
3
|
613477
|
SPTAN1
|
182810
|
9q34.3
|
Developmental and epileptic encephalopathy 14
|
AD
|
3
|
614959
|
KCNT1
|
608167
|
9q34.3
|
Developmental and epileptic encephalopathy 101
|
AR
|
3
|
619814
|
GRIN1
|
138249
|
10p14
|
Developmental and epileptic encephalopathy 97
|
AD
|
3
|
619561
|
CELF2
|
602538
|
11p15.5
|
Developmental and epileptic encephalopathy 3
|
AR
|
3
|
609304
|
SLC25A22
|
609302
|
11p15.4
|
Developmental and epileptic encephalopathy 49
|
AR
|
3
|
617281
|
DENND5A
|
617278
|
11p13
|
Developmental and epileptic encephalopathy 41
|
AD
|
3
|
617105
|
SLC1A2
|
600300
|
12p13.31
|
Developmental and epileptic encephalopathy 21
|
AR
|
3
|
615833
|
NECAP1
|
611623
|
12p13.1
|
Developmental and epileptic encephalopathy 27
|
AD
|
3
|
616139
|
GRIN2B
|
138252
|
12q13.13
|
Developmental and epileptic encephalopathy 13
|
AD
|
3
|
614558
|
SCN8A
|
600702
|
12q21.1
|
Developmental and epileptic encephalopathy 103
|
AD
|
3
|
619913
|
KCNC2
|
176256
|
12q24.11-q24.12
|
Developmental and epileptic encephalopathy 67
|
AD
|
3
|
618141
|
CUX2
|
610648
|
14q23.2
|
Developmental and epileptic encephalopathy 112
|
AD
|
3
|
620537
|
KCNH5
|
605716
|
14q32.33
|
Developmental and epileptic encephalopathy 66
|
AD
|
3
|
618067
|
PACS2
|
610423
|
15q12
|
Developmental and epileptic encephalopathy 43
|
AD
|
3
|
617113
|
GABRB3
|
137192
|
15q12
|
Developmental and epileptic encephalopathy 79
|
AD
|
3
|
618559
|
GABRA5
|
137142
|
15q21.2
|
Developmental and epileptic encephalopathy 81
|
AR
|
3
|
618663
|
DMXL2
|
612186
|
15q21.3
|
Developmental and epileptic encephalopathy 80
|
AR
|
3
|
618580
|
PIGB
|
604122
|
15q25.2
|
Developmental and epileptic encephalopathy 48
|
AR
|
3
|
617276
|
AP3B2
|
602166
|
15q26.1
|
Developmental and epileptic encephalopathy 94
|
AD
|
3
|
615369
|
CHD2
|
602119
|
16p13.3
|
Multiple congenital anomalies-hypotonia-seizures syndrome 4
|
AR
|
3
|
618548
|
PIGQ
|
605754
|
16p13.3
|
Developmental and epileptic encephalopathy 16
|
AR
|
3
|
615338
|
TBC1D24
|
613577
|
16q13
|
Developmental and epileptic encephalopathy 17
|
AD
|
3
|
615473
|
GNAO1
|
139311
|
16q21
|
Developmental and epileptic encephalopathy 82
|
AR
|
3
|
618721
|
GOT2
|
138150
|
16q22.1
|
Developmental and epileptic encephalopathy 29
|
AR
|
3
|
616339
|
AARS1
|
601065
|
16q23.1-q23.2
|
Developmental and epileptic encephalopathy 28
|
AR
|
3
|
616211
|
WWOX
|
605131
|
17p13.1
|
Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta
|
AR
|
3
|
615905
|
SLC13A5
|
608305
|
17q11.2
|
Developmental and epileptic encephalopathy 95
|
AR
|
3
|
618143
|
PIGS
|
610271
|
17q12
|
Developmental and epileptic encephalopathy 72
|
AD
|
3
|
618374
|
NEUROD2
|
601725
|
17q21.2
|
Developmental and epileptic encephalopathy 104
|
AD
|
3
|
619970
|
ATP6V0A1
|
192130
|
17q21.31
|
Developmental and epileptic encephalopathy 96
|
AD
|
3
|
619340
|
NSF
|
601633
|
17q21.32
|
Developmental and epileptic encephalopathy 115
|
AR
|
3
|
620783
|
SNF8
|
610904
|
17q25.1
|
Developmental and epileptic encephalopathy 105 with hypopituitarism
|
AR
|
3
|
619983
|
HID1
|
605752
|
19p13.3
|
Developmental and epileptic encephalopathy 109
|
AD
|
3
|
620145
|
FZR1
|
603619
|
19p13.13
|
Developmental and epileptic encephalopathy 42
|
AD
|
3
|
617106
|
CACNA1A
|
601011
|
19p13.11
|
Developmental and epileptic encephalopathy 108
|
AD
|
3
|
620115
|
MAST3
|
612258
|
19q13.11
|
Developmental and epileptic encephalopathy 52
|
AR
|
3
|
617350
|
SCN1B
|
600235
|
19q13.2
|
Developmental and epileptic encephalopathy 99
|
AD
|
3
|
619606
|
ATP1A3
|
182350
|
19q13.33
|
Developmental and epileptic encephalopathy 46
|
AD
|
3
|
617162
|
GRIN2D
|
602717
|
19q13.33
|
Microcephaly, seizures, and developmental delay
|
AR
|
3
|
613402
|
PNKP
|
605610
|
20p13
|
Developmental and epileptic encephalopathy 35
|
AR
|
3
|
616647
|
ITPA
|
147520
|
20p12.3
|
Developmental and epileptic encephalopathy 12
|
AR
|
3
|
613722
|
PLCB1
|
607120
|
20p11.21
|
Developmental and epileptic encephalopathy 107
|
AR
|
3
|
620033
|
NAPB
|
611270
|
20q11.23
|
Developmental and epileptic encephalopathy 114
|
AD
|
3
|
620774
|
SLC32A1
|
616440
|
20q13.12
|
Developmental and epileptic encephalopathy 34
|
AR
|
3
|
616645
|
SLC12A5
|
606726
|
20q13.13
|
Developmental and epileptic encephalopathy 26
|
AD
|
3
|
616056
|
KCNB1
|
600397
|
20q13.33
|
Developmental and epileptic encephalopathy 7
|
AD
|
3
|
613720
|
KCNQ2
|
602235
|
20q13.33
|
Developmental and epileptic encephalopathy 33
|
AD
|
3
|
616409
|
EEF1A2
|
602959
|
21q22.11
|
Developmental and epileptic encephalopathy 53
|
AR
|
3
|
617389
|
SYNJ1
|
604297
|
21q22.13
|
Developmental and epileptic encephalopathy 55
|
AR
|
3
|
617599
|
PIGP
|
605938
|
21q22.3
|
Developmental and epileptic encephalopathy 30
|
AD
|
3
|
616341
|
SIK1
|
605705
|
22q12.2-q12.3
|
Developmental and epileptic encephalopathy 111
|
AR
|
3
|
620504
|
DEPDC5
|
614191
|
Xp22.2
|
Multiple congenital anomalies-hypotonia-seizures syndrome 2
|
XLR
|
3
|
300868
|
PIGA
|
311770
|
Xp22.13
|
Developmental and epileptic encephalopathy 2
|
XLD
|
3
|
300672
|
CDKL5
|
300203
|
Xp21.3
|
Developmental and epileptic encephalopathy 1
|
XLR
|
3
|
308350
|
ARX
|
300382
|
Xp11.23
|
Congenital disorder of glycosylation, type IIm
|
SMo, XLD
|
3
|
300896
|
SLC35A2
|
314375
|
Xp11.22
|
Developmental and epileptic encephalopathy 85, with or without midline brain defects
|
XLD
|
3
|
301044
|
SMC1A
|
300040
|
Xq11.1
|
Developmental and epileptic encephalopathy 8
|
XL
|
3
|
300607
|
ARHGEF9
|
300429
|
Xq22.1
|
Developmental and epileptic encephalopathy 9
|
XL
|
3
|
300088
|
PCDH19
|
300460
|
Xq23
|
Developmental and epileptic encephalopathy 36
|
XL
|
3
|
300884
|
ALG13
|
300776
|
Xq26.3-q27.1
|
Developmental and epileptic encephalopathy 90
|
XLD, XLR
|
3
|
301058
|
FGF13
|
300070
|