Entry Search - 138252 613970 616139 - OMIM
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Search: '138252 613970 616139 (Search in: MIM number)'
Results: 3 entries.

1:
* 138252. GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B; GRIN2B
Cytogenetic location: 12p13.1, Genomic coordinates (GRCh38): 12:13,537,337-13,982,134
Matching terms: 138252
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
12p13.1 Developmental and epileptic encephalopathy 27 616139 AD 3
Intellectual developmental disorder, autosomal dominant 6, with or without seizures 613970 AD 3
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2:
# 616139. DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27; DEE27
Cytogenetic location: 12p13.1
Matching terms: 616139
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12p13.1 Developmental and epileptic encephalopathy 27 616139 AD 3 GRIN2B 138252
▲ Close
Developmental and epileptic encephalopathy - PS308350 - 118 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
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 AR 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 31B, autosomal recessive AR 3 620352 DNM1 602377
9q34.11 Developmental and epileptic encephalopathy 31A, autosomal dominant AD 3 616346 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
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ICD+
ORPHA: 3451, 589547
DO: 0080444
▲ Close

3:
# 613970. INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6
Cytogenetic location: 12p13.1
Matching terms: 613970
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12p13.1 Intellectual developmental disorder, autosomal dominant 6, with or without seizures 613970 AD 3 GRIN2B 138252
▲ Close
Intellectual developmental disorder, autosomal dominant - PS156200 - 66 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.11 Coffin-Siris syndrome 2 AD 3 614607 ARID1A 603024
1q21.3 White-Sutton syndrome AD 3 616364 POGZ 614787
1q21.3 GAND syndrome AD 3 615074 GATAD2B 614998
1q22 Intellectual developmental disorder, autosomal dominant 52 AD 3 617796 ASH1L 607999
1q44 Intellectual developmental disorder, autosomal dominant 22 AD 3 612337 ZBTB18 608433
2p25.3 Intellectual developmental disorder, autosomal dominant 39 AD 3 616521 MYT1L 613084
2q11.2 ?Intellectual developmental disorder, autosomal dominant 69 AD 3 617863 LMAN2L 609552
2q23.1 Intellectual developmental disorder, autosomal dominant 1 AD 3 156200 MBD5 611472
3p25.3 Intellectual developmental disorder, autosomal dominant 23 AD 3 615761 SETD5 615743
3p21.31 Intellectual developmental disorder, autosomal dominant 70 AD 3 620157 SETD2 612778
3q22.3 Intellectual developmental disorder, autosomal dominant 47 AD 3 617635 STAG1 604358
3q26.32 Intellectual developmental disorder, autosomal dominant 41 AD 3 616944 TBL1XR1 608628
3q27.1 Intellectual developmental disorder 60 with seizures AD 3 618587 AP2M1 601024
4q31.1 Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities AD 3 617787 NAA15 608000
5p15.2 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly AD 3 618825 TRIO 601893
5p15.2 Intellectual developmental disorder, autosomal dominant 44, with microcephaly AD 3 617061 TRIO 601893
5q13.3 Intellectual developmental disorder, autosomal dominant 34 AD 3 616351 COL4A3BP 604677
5q32 Intellectual developmental disorder, autosomal dominant 53 AD 3 617798 CAMK2A 114078
5q33.2 Intellectual developmental disorder, autosomal dominant 67 AD 3 619927 GRIA1 138248
6p21.32 Intellectual developmental disorder, autosomal dominant 5 AD 3 612621 SYNGAP1 603384
6q13 Intellectual developmental disorder, autosomal dominant 46 AD 3 617601 KCNQ5 607357
6q14.3 Intellectual developmental disorder, autosomal dominant 64 AD 3 619188 ZNF292 616213
6q22.1 Intellectual developmental disorder, autosomal dominant 55, with seizures AD 3 617831 NUS1 610463
6q24.2 Intellectual developmental disorder, autosomal dominant 43 AD 3 616977 HIVEP2 143054
6q25.3 Coffin-Siris syndrome 1 AD 3 135900 ARID1B 614556
7p22.1 Intellectual developmental disorder, autosomal dominant 48 AD 3 617751 RAC1 602048
7p13 Intellectual developmental disorder, autosomal dominant 54 AD 3 617799 CAMK2B 607707
7q11.22 Intellectual developmental disorder, autosomal dominant 26 AD 3 615834 KIAA0442 607270
7q36.2 Intellectual developmental disorder, autosomal dominant 33 AD 3 616311 DPP6 126141
9p24 Intellectual developmental disorder, autosomal dominant 2 AD 4 614113 MRD2 614113
9q34.11 Intellectual developmental disorder, autosomal dominant 58 AD 3 618106 SET 600960
9q34.3 Kleefstra syndrome 1 AD 3 610253 EHMT1 607001
10p15.3 Intellectual developmental disorder, autosomal dominant 30 AD 3 616083 ZMYND11 608668
10q22.2 Intellectual developmental disorder, autosomal dominant 59 AD 3 618522 CAMK2G 602123
11p15.5 Vulto-van Silfout-de Vries syndrome AD 3 615828 DEAF1 602635
11q13.1 Coffin-Siris syndrome 7 AD 3 618027 DPF2 601671
11q13.1-q13.2 Schuurs-Hoeijmakers syndrome AD 3 615009 PACS1 607492
11q13.2 Intellectual developmental disorder, autosomal dominant 51 AD 3 617788 KMT5B 610881
11q24.2 Intellectual developmental disorder, autosomal dominant 4 AD 2 612581 MRD4 612581
12p13.1 Intellectual developmental disorder, autosomal dominant 6, with or without seizures AD 3 613970 GRIN2B 138252
12q12 Coffin-Siris syndrome 6 AD 3 617808 ARID2 609539
12q13.12 Intellectual developmental disorder, autosomal dominant, FRA12A type AD 3 136630 DIP2B 611379
12q13.2 Coffin-Siris syndrome 8 AD 3 618362 SMARCC2 601734
12q21.33 Intellectual developmental disorder, autosomal dominant 66 AD 3 619910 ATP2B1 108731
14q11.2 Intellectual developmental disorder, autosomal dominant 74 AD 3 620688 HNRNPC 164020
15q21.3 Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities AD 3 620330 RFX7 612660
16p13.3 Intellectual developmental disorder, autosomal dominant 72 AD 3 620439 SRRM2 606032
16q22.1 Intellectual developmental disorder, autosomal dominant 21 AD 3 615502 CTCF 604167
16q24.3 Intellectual developmental disorder, autosomal dominant 3 AD 3 612580 CDH15 114019
17p13.1 Intellectual developmental disorder, autosomal dominant 62 AD 3 618793 DLG4 602887
17q21.2 Coffin-Siris syndrome 5 AD 3 616938 SMARCE1 603111
17q21.31 Koolen-De Vries syndrome AD 3 610443 KANSL1 612452
17q23.1 Intellectual developmental disorder, autosomal dominant 56 AD 3 617854 CLTC 118955
17q23.2 Intellectual developmental disorder, autosomal dominant 61 AD 3 618009 MED13 603808
17q23.2 Intellectual developmental disorder, autosomal dominant 57 AD 3 618050 TLK2 608439
18q12.3 Intellectual developmental disorder, autosomal dominant 29 AD 3 616078 SETBP1 611060
19p13.3 Intellectual developmental disorder, autosomal dominant 65 AD 3 619320 KDM4B 609765
19p13.2 Coffin-Siris syndrome 4 AD 3 614609 SMARCA4 603254
19q13.12 Intellectual developmental disorder, autosomal dominant 68 AD 3 619934 KMT2B 606834
19q13.2 Intellectual developmental disorder, autosomal dominant 45 AD 3 617600 CIC 612082
20q11.23 ?Intellectual developmental disorder, autosomal dominant 11 AD 3 614257 EPB41L1 602879
20q13.33 Intellectual developmental disorder, autosomal dominant 73 AD 3 620450 TAF4 601796
20q13.33 Intellectual developmental disorder, autosomal dominant 38 AD 3 616393 EEF1A2 602959
21q22.13 Intellectual developmental disorder, autosomal dominant 7 AD 3 614104 DYRK1A 600855
22q11.23 Coffin-Siris syndrome 3 AD 3 614608 SMARCB1 601607
22q12.3 ?Intellectual developmental disorder, autosomal dominant 10 AD 3 614256 CACNG2 602911
▲ Close
ICD+
ORPHA: 178469, 589547
DO: 0070036
▲ Close
Search: 138252 613970 616139 (Search in: MIM number)
Results: 3 entries.

1:
* 138252. GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B; GRIN2B
Cytogenetic location: 12p13.1, Genomic coordinates (GRCh38): 12:13,537,337-13,982,134
Matching terms: 138252

2:
# 616139. DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27; DEE27
Cytogenetic location: 12p13.1
Matching terms: 616139

3:
# 613970. INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6
Cytogenetic location: 12p13.1
Matching terms: 613970


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 1, 2024