Entry Search - 220500 605021 608105 613577 614617 615338 616044 - OMIM
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Search: '220500 605021 608105 613577 614617 615338 616044 (Search in: MIM number)'
Results: 7 entries.

1:
* 613577. TBC1 DOMAIN FAMILY, MEMBER 24; TBC1D24
Cytogenetic location: 16p13.3, Genomic coordinates (GRCh38): 16:2,475,127-2,505,730
Matching terms: 613577
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
16p13.3 Deafness, autosomal dominant 65 616044 AD 3
Deafness, autosomal recessive 86 614617 AR 3
Developmental and epileptic encephalopathy 16 615338 AR 3
DOORS syndrome 220500 AR 3
Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp 608105 AR 3
Myoclonic epilepsy, infantile, familial 605021 AR 3
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ICD+
SNOMEDCT: 1231737000, 719800009, 784342008
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2:
# 605021. MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME
Cytogenetic location: 16p13.3
Matching terms: 605021
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
16p13.3 Myoclonic epilepsy, infantile, familial 605021 AR 3 TBC1D24 613577
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ICD+
SNOMEDCT: 784342008
ORPHA: 352582, 352587
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3:
# 608105. EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP; EPRPDC
Cytogenetic location: 16p13.3
Matching terms: 608105
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
16p13.3 Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp 608105 AR 3 TBC1D24 613577
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ICD+
SNOMEDCT: 1231737000
ORPHA: 163727
DO: 0111645
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4:
# 616044. DEAFNESS, AUTOSOMAL DOMINANT 65; DFNA65
Cytogenetic location: 16p13.3
Matching terms: 616044
► 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
16p13.3 Deafness, autosomal dominant 65 616044 AD 3 TBC1D24 613577
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Deafness, autosomal dominant - PS124900 - 75 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.12 Deafness, autosomal dominant 85 AD 3 620227 USP48 617445
1p34.3 Deafness, autosomal dominant 2B, with or without peripheral neuropathy AD 3 612644 GJB3 603324
1p34.3 ?Deafness, autosomal dominant 88 AD 3 620283 EPHA10 611123
1p34.2 Deafness, autosomal dominant 2A AD 3 600101 KCNQ4 603537
1p21.1 Deafness, autosomal dominant 37 AD 3 618533 COL11A1 120280
1q21-q23 Deafness, autosomal dominant 49 AD 2 608372 DFNA49 608372
1q21.3 Deafness, autosomal dominant 87 AD 3 620281 PI4KB 602758
1q23.3 Deafness, autosomal dominant 7 AD 3 601412 LMX1A 600298
1q44 Deafness, autosomal dominant 34, with or without inflammation AD 3 617772 NLRP3 606416
2p21-p12 Deafness, autosomal dominant 58 AD 4 615654 DFNA58 615654
2p12 Deafness, autosomal dominant 43 AD 2 608394 DFNA43 608394
2p11.2 ?Deafness, autosomal dominant 81 AD 3 619500 ELMOD3 615427
2q23-q24.3 Deafness, autosomal dominant 16 AD 2 603964 DFNA16 603964
3p25.3 Deafness, autosomal dominant 82 AD 3 619804 ATP2B2 108733
3q21.3 ?Deafness, autosomal dominant 70 AD 3 616968 MCM2 116945
3q22 Deafness, autosomal dominant 18 AD 2 606012 DFNA18 606012
3q23 Deafness, autosomal dominant 76 AD 3 618787 PLS1 602734
3q28 ?Deafness, autosomal dominant 44 AD 3 607453 CCDC50 611051
4p16.1 Deafness, autosomal dominant 6/14/38 AD 3 600965 WFS1 606201
4q12 Deafness, autosomal dominant 27 AD 3 612431 REST 600571
4q21.22 ?Deafness, autosomal dominant 79 AD 3 619086 SCD5 608370
4q22.2 ?Deafness, autosomal dominant 89 AD 3 620284 ATOH1 601461
4q35-qter Deafness, autosomal dominant 24 AD 2 606282 DFNA24 606282
5q13.2 ?Deafness, autosomal dominant 83 AD 3 619808 MAP1B 157129
5q23.3 Deafness, autosomal dominant 78 AD 3 619081 SLC12A2 600840
5q31 Deafness, autosomal dominant 54 AD 2 615649 DFNA54 615649
5q31.3 Deafness, autosomal dominant 1, with or without thrombocytopenia AD 3 124900 DIAPH1 602121
5q32 Deafness, autosomal dominant 15/52 AD 3 602459 POU4F3 602460
6p22.3 Deafness, autosomal dominant 21 AD 3 607017 RIPOR2 611410
6p21.3 Deafness, autosomal dominant 31 AD 2 608645 DFNA31 608645
6p21.33 ?Deafness, autosomal dominant 72 AD 3 617606 SLC44A4 606107
6p21.32 Deafness, autosomal dominant 13 AD 3 601868 COL11A2 120290
6q14.1 Deafness, autosomal dominant 22 AD 3 606346 MYO6 600970
6q14.1 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy AD 3 606346 MYO6 600970
6q21 ?Deafness, autosomal dominant 66 AD 3 616969 CD164 603356
6q23.2 Deafness, autosomal dominant 10 AD 3 601316 EYA4 603550
7p15.3 Deafness, autosomal dominant 5 AD 3 600994 GSDME 608798
7p14.3 ?Deafness, autosomal dominant 74 AD 3 618140 PDE1C 602987
7q22.1 ?Deafness, autosomal dominant 75 AD 3 618778 TRRAP 603015
7q32.2 Deafness, autosomal dominant 50 AD 3 613074 MIR96 611606
8q22.3 Deafness, autosomal dominant 28 AD 3 608641 GRHL2 608576
9p22-p21 Deafness, autosomal dominant 47 AD 2 608652 DFNA47 608652
9q21.11 Deafness, autosomal dominant 51 AD 4 613558 DFNA51 613558
9q21.13 Deafness, autosomal dominant 36 AD 3 606705 TMC1 606706
9q33.1 Deafness, autosomal dominant 56 AD 3 615629 TNC 187380
10p12.1 Deafness, autosomal dominant 90 AD 3 620722 MYO3A 606808
11p14.2-q12.3 Deafness, autosomal dominant 59 AD 2 612642 DFNA59 612642
11q13.5 Deafness, autosomal dominant 11 AD 3 601317 MYO7A 276903
11q23.3 Deafness, autosomal dominant 8/12 AD 3 601543 TECTA 602574
12q13-q14 Deafness, autosomal dominant 48 AD 2 607841 DFNA48 607841
12q21.31 Deafness, autosomal dominant 73 AD 3 617663 PTPRQ 603317
12q21.32 Deafness, autosomal dominant 69, unilateral or asymmetric AD 3 616697 KITLG 184745
12q23.1 Deafness, autosomal dominant 25 AD 3 605583 SLC17A8 607557
12q24.31 Deafness, autosomal dominant 64 AD 3 614152 DIABLO 605219
12q24.33 Deafness, autosomal dominant 41 AD 3 608224 P2RX2 600844
13q12.11 Deafness, autosomal dominant 3A AD 3 601544 GJB2 121011
13q12.11 Deafness, autosomal dominant 3B AD 3 612643 GJB6 604418
13q34 Deafness, autosomal dominant 84 AD 3 619810 ATP11A 605868
14q11.2-q12 Deafness, autosomal dominant 53 AD 2 609965 DFNA53 609965
14q12 Deafness, autosomal dominant 9 AD 3 601369 COCH 603196
14q23.1 Deafness, autosomal dominant 23 AD 3 605192 SIX1 601205
15q21.2 ?Deafness, autosomal dominant 71 AD 3 617605 DMXL2 612186
15q25-q26 Deafness, autosomal dominant 30 AD 2 606451 DFNA30 606451
15q25.2 ?Deafness, autosomal dominant 68 AD 3 616707 HOMER2 604799
16p13.3 Deafness, autosomal dominant 65 AD 3 616044 TBC1D24 613577
16p13.11 ?Deafness, autosomal dominant 77 AD 3 618915 ABCC1 158343
16p12.2 Deafness, autosomal dominant 40 AD 3 616357 CRYM 123740
17q25.3 Deafness, autosomal dominant 20/26 AD 3 604717 ACTG1 102560
18p11.32 ?Deafness, autosomal dominant 86 AD 3 620280 THOC1 606930
18q11.1-q11.2 Deafness, autosomal dominant 80 AD 3 619274 GREB1L 617782
19q13.31-q13.32 Deafness, autosomal dominant 4B AD 3 614614 CEACAM16 614591
19q13.33 Deafness, autosomal dominant 4A AD 3 600652 MYH14 608568
20q13.33 Deafness, autosomal dominant 67 AD 3 616340 OSBPL2 606731
22q12.3 Deafness, autosomal dominant 17 AD 3 603622 MYH9 160775
Not Mapped Deafness, autosomal dominant 33 AD 614211 DFNA33 614211
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ICD+
ORPHA: 90635
DO: 0110586
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5:
# 614617. DEAFNESS, AUTOSOMAL RECESSIVE 86; DFNB86
Cytogenetic location: 16p13.3
Matching terms: 614617
► 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
16p13.3 Deafness, autosomal recessive 86 614617 AR 3 TBC1D24 613577
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Deafness, autosomal recessive - PS220290 - 109 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.31-p36.13 Deafness, autosomal recessive 96 AR 2 614414 DFNB96 614414
1p36.31 Deafness, autosomal recessive 36 AR 3 609006 ESPN 606351
1p36.31 Deafness, neurosensory, without vestibular involvement, autosomal dominant AR 3 609006 ESPN 606351
1p34.3 Deafness, digenic, GJB2/GJB3 AR, DD 3 220290 GJB3 603324
1p31.3 ?Deafness, autosomal recessive 108 AR 3 617654 ROR1 602336
1p21.2 Deafness, autosomal recessive 32, with or without immotile sperm AR 3 608653 CDC14A 603504
1q23.2 Enlarged vestibular aqueduct, digenic AR 3 600791 KCNJ10 602208
1q43-q44 Deafness, autosomal recessive 45 AR 2 612433 DFNB45 612433
2p25.1-p24.3 Deafness, neurosensory, autosomal recessive 47 AR 2 609946 DFNB47 609946
2p23.3 Deafness, autosomal recessive 9 AR 3 601071 OTOF 603681
2p23.3 Auditory neuropathy, autosomal recessive, 1 AR 3 601071 OTOF 603681
2p16.1 Deafness, autosomal recessive 70, with or without adult-onset neurodegeneration AR 3 614934 PNPT1 610316
2p11.2 ?Deafness, autosomal recessive 88 AR 3 615429 ELMOD3 615427
2q23-q31 Deafness, autosomal recessive 27 AR 2 605818 DFNB27 605818
2q31.2 Deafness, autosomal recessive 59 AR 3 610220 PJVK 610219
3p25.3 {Deafness, autosomal recessive 12, modifier of} AR 3 601386 ATP2B2 108733
3p21.31 Deafness, autosomal recessive 6 AR 3 600971 TMIE 607237
3q13.33 Deafness, autosomal recessive 121 AR 3 620551 GPR156 610464
3q13.33 Deafness, autosomal recessive 42 AR 3 609646 ILDR1 609739
4p15.32 Deafness, autosomal recessive 117 AR 3 619174 CLRN2 618988
4p13 Deafness, autosomal recessive 25 AR 3 613285 GRXCR1 613283
4q12-q13.2 Deafness, autosomal recessive 55 AR 2 609952 DFNB55 609952
4q31.21 ?Deafness, autosomal recessive 26 AR 3 605428 GAB1 604439
5q13.2 Deafness, autosomal recessive 49 AR 3 610153 MARVELD2 610572
5q13.2 ?Deafness, autosomal recessive 112 AR 3 618257 BDP1 607012
5q21.1 Deafness, autosomal recessive 100 AR 3 618422 PPIP5K2 611648
5q23.3 Deafness, autosomal recessive 120 AR 3 620238 MINAR2 620215
5q32 ?Deafness, autosomal recessive 101 AR 3 615837 GRXCR2 615762
5q35.1 Enlarged vestibular aqueduct AR 3 600791 FOXI1 601093
6p25.2 ?Deafness, autosomal recessive 91 AR 3 613453 SERPINB6 173321
6p22.3 ?Deafness, autosomal recessive 66 AR 3 610212 DCDC2 605755
6p22.3 ?Deafness, autosomal recessive 104 AR 3 616515 RIPOR2 611410
6p21.32 Deafness, autosomal recessive 53 AR 3 609706 COL11A2 120290
6p21.31 Deafness, autosomal recessive 67 AR 3 610265 LHFPL5 609427
6p21.1 ?Deafness, autosomal recessive 103 AR 3 616042 CLIC5 607293
6q14.1 Deafness, autosomal recessive 37 AR 3 607821 MYO6 600970
6q26-q27 Deafness, autosomal recessive 38 AR 2 608219 DFNB38 608219
7p12.3 ?Deafness, autosomal recessive 44 AR 3 610154 ADCY1 103072
7q21.11 Deafness, autosomal recessive 39 AR 3 608265 HGF 142409
7q22.1 ?Deafness, autosomal recessive 61 AR 3 613865 SLC26A5 604943
7q22.3 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct AR 3 600791 SLC26A4 605646
7q31 Deafness, autosomal recessive 14 AR 2 603678 DFNB14 603678
7q31 Deafness, autosomal recessive 17 AR 2 603010 DFNB17 603010
7q31.2 ?Deafness, autosomal recessive 97 AR 3 616705 MET 164860
7q34-q36 Deafness, autosomal recessive 13 AR 2 603098 DFNB13 603098
8p22-p21.3 Deafness, autosomal recessive 71 AR 2 612789 DFNB71 612789
8q22 Deafness, autosomal recessive 118, with cochlear aplasia AR 4 619553 DFNB118 619553
8q22.1 ?Deafness, autosomal recessive 109 AR 3 618013 ESRP1 612959
8q23.1-q23.2 Deafness, autosomal recessive 124 AR 3 620794 PKHD1L1 607843
9p23-p21.2 Deafness, autosomal recessive 83 AR 2 613685 DFNB83 613685
9q21.13 Deafness, autosomal recessive 7 AR 3 600974 TMC1 606706
9q32 Deafness, autosomal recessive 31 AR 3 607084 WHRN 607928
9q34.3 Deafness, autosomal recessive 79 AR 3 613307 TPRN 613354
10p12.1 Deafness, autosomal recessive 30 AR 3 607101 MYO3A 606808
10p11.23-q21.1 Deafness, autosomal recessive 33 AR 2 607239 DFNB33 607239
10q21.1 Deafness, autosomal recessive 23 AR 3 609533 PCDH15 605514
10q22.1 Deafness, autosomal recessive 12 AR 3 601386 CDH23 605516
10q24.31 Deafness, autosomal recessive 57 AR 3 618003 PDZD7 612971
11p15.5 Deafness autosomal recessive 106 AR 3 617637 EPS8L2 614988
11p15.1 Deafness, autosomal recessive 18A AR 3 602092 USH1C 605242
11p15.1 Deafness, autosomal recessive 18B AR 3 614945 OTOG 604487
11p14.3 ?Deafness, autosomal recessive 125 AR 3 620877 GAS2 602835
11p13-p12 Deafness, autosomal recessive 51 AR 2 609941 DFNB51 609941
11q13.2 Deafness, autosomal recessive 93 AR 3 614899 CABP2 607314
11q13.4 Deafness, autosomal recessive 63 AR 3 611451 LRTOMT 612414
11q13.5 Deafness, autosomal recessive 2 AR 3 600060 MYO7A 276903
11q14.1 ?Deafness, autosomal recessive 94 AR 3 618434 NARS2 612803
11q22.3 Deafness, autosomal recessive 24 AR 3 611022 RDX 179410
11q23.3 Deafness, autosomal recessive 111 AR 3 618145 MPZL2 604873
11q23.3 Deafness, autosomal recessive 21 AR 3 603629 TECTA 602574
11q25-qter Deafness, autosomal recessive 20 AR 2 604060 DFNB20 604060
12p13.2-p11.23 Deafness, autosomal recessive 62 AR 2 610143 DFNB62 610143
12p12.3 ?Deafness, autosomal recessive 102 AR 3 615974 EPS8 600206
12q14.3 Deafness, autosomal recessive 74 AR 3 613718 MSRB3 613719
12q21.31 Deafness, autosomal recessive 84B AR 3 614944 OTOGL 614925
12q21.31 Deafness, autosomal recessive 84A AR 3 613391 PTPRQ 603317
13q12.11 Deafness, autosomal recessive 1A AR, DD 3 220290 GJB2 121011
13q12.11 Deafness, digenic GJB2/GJB6 AR, DD 3 220290 GJB6 604418
13q12.11 Deafness, autosomal recessive 1B AR 3 612645 GJB6 604418
13q32.3 ?Deafness, autosomal recessive 122 AR 3 620714 TMTC4 618203
14q12 Deafness, autosomal recessive 5 AR 2 600792 DFNB5 600792
14q12 ?Deafness, autosomal recessive 110 AR 3 618094 COCH 603196
14q24.3 Deafness, autosomal recessive 35 AR 3 608565 ESRRB 602167
15q15.3 Deafness, autosomal recessive 16 AR 3 603720 STRC 606440
15q21.1 Deafness, autosomal recessive 119 AR 3 619615 AFG2B 619578
15q25.1 Deafness, autosomal recessive 48 AR 3 609439 CIB2 605564
16p13.3 Deafness, autosomal recessive 86 AR 3 614617 TBC1D24 613577
16p13.3 Deafness, autosomal recessive 116 AR 3 619093 CLDN9 615799
16p12.2 Deafness, autosomal recessive 22 AR 3 607039 OTOA 607038
16p11.2 ?Deafness, autosomal recessive 123 AR 3 620745 STX4 186591
16q23.1 Deafness, autosomal recessive 89 AR 3 613916 KARS1 601421
17p13.2 ?Deafness, autosomal recessive 115 AR 3 618457 SPNS2 612584
17p12-q11.2 Deafness, autosomal recessive 85 AR 2 613392 DFNB85 613392
17p11.2 Deafness, autosomal recessive 3 AR 3 600316 MYO15A 602666
17p11.2 Deafness, autosomal recessive 114 AR 3 618456 GRAP 604330
17q12 Deafness, autosomal recessive 99 AR 3 618481 TMEM132E 616178
17q25.1 Deafness, autosomal recessive 107 AR 3 617639 WBP2 606962
18p11.32-p11.31 Deafness, autosomal recessive 46 AR 2 609647 DFNB46 609647
18q21.1 Deafness, autosomal recessive 77 AR 3 613079 LOXHD1 613072
19p13.3 Deafness, autosomal recessive 15 AR 3 601869 GIPC3 608792
19p13.2 Deafness, autosomal recessive 68 AR 3 610419 S1PR2 605111
19q13.12 Deafness, autosomal recessive 76 AR 3 615540 SYNE4 615535
19q13.31-q13.32 Deafness, autosomal recessive 113 AR 3 618410 CEACAM16 614591
20q13.2-q13.3 Deafness, autosomal recessive 65 AR 2 610248 DFNB65 610248
21q22.13 Deafness, autosomal recessive 29 AR 3 614035 CLDN14 605608
21q22.3 Deafness, autosomal recessive 8/10 AR 3 601072 TMPRSS3 605511
21q22.3 ?Deafness, autosomal recessive 98 AR 3 614861 TSPEAR 612920
22q11.21-q12.1 Deafness, autosomal recessive 40 AR 2 608264 DFNB40 608264
22q13.1 Deafness, autosomal recessive 28 AR 3 609823 TRIOBP 609761
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ICD+
ORPHA: 90636
DO: 0110532
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6:
# 615338. DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16; DEE16
Cytogenetic location: 16p13.3
Matching terms: 615338
► 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
16p13.3 Developmental and epileptic encephalopathy 16 615338 AR 3 TBC1D24 613577
▲ 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 AD 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 CACNA2D1 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
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ICD+
ORPHA: 293181, 352596
DO: 0080449
▲ Close

7:
# 220500. DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; DOORS
Cytogenetic location: 16p13.3
Matching terms: 220500
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
16p13.3 DOORS syndrome 220500 AR 3 TBC1D24 613577
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ICD+
SNOMEDCT: 719800009
ORPHA: 3231, 79500
DO: 0111627
▲ Close
Search: 220500 605021 608105 613577 614617 615338 616044 (Search in: MIM number)
Results: 7 entries.

1:
* 613577. TBC1 DOMAIN FAMILY, MEMBER 24; TBC1D24
Cytogenetic location: 16p13.3, Genomic coordinates (GRCh38): 16:2,475,127-2,505,730
Matching terms: 613577

2:
# 605021. MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME
Cytogenetic location: 16p13.3
Matching terms: 605021

3:
# 608105. EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP; EPRPDC
Cytogenetic location: 16p13.3
Matching terms: 608105

4:
# 616044. DEAFNESS, AUTOSOMAL DOMINANT 65; DFNA65
Cytogenetic location: 16p13.3
Matching terms: 616044

5:
# 614617. DEAFNESS, AUTOSOMAL RECESSIVE 86; DFNB86
Cytogenetic location: 16p13.3
Matching terms: 614617

6:
# 615338. DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16; DEE16
Cytogenetic location: 16p13.3
Matching terms: 615338

7:
# 220500. DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; DOORS
Cytogenetic location: 16p13.3
Matching terms: 220500


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® 1966-2025 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® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025