Entry Search - 146690 180040 180069 204000 204100 600179 602225 603208 604210 604232 604392 604393 604537 604863 605446 608553 608700 608830 609237 609868 610142 610612 611408 611755 612712 613341 613826 613829 613835 613837 613843 614186 - OMIM
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Search: '146690 180040 180069 204000 204100 600179 602225 603208 604210 604232 604392 604393 604537 604863 605446 608553 608700 608830 609237 609868 610142 610612 611408 611755 612712 613341 613826 613829 613835 613837 613843 614186 (Search in: MIM number)'
Results: 32 entries.
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1:
# 608553. LEBER CONGENITAL AMAUROSIS 9; LCA9
Cytogenetic location: 1p36.22
Matching terms: 608553
► 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
1p36.22 Leber congenital amaurosis 9 608553 AR 3 NMNAT1 608700
▲ Close
Leber congenital amaurosis - PS204000 - 26 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.22 Leber congenital amaurosis 9 AR 3 608553 NMNAT1 608700
1p31.3 Leber congenital amaurosis 2 AR 3 204100 RPE65 180069
1q31.3 Leber congenital amaurosis 8 AR 3 613835 CRB1 604210
1q32.3 Leber congenital amaurosis 12 AR 3 610612 RD3 180040
2q37.1 Leber congenital amaurosis 16 AR 3 614186 KCNJ13 603208
4q32.1 Retinal dystrophy, early-onset severe AR 3 613341 LRAT 604863
4q32.1 Leber congenital amaurosis 14 AR 3 613341 LRAT 604863
4q32.1 Retinitis pigmentosa, juvenile AR 3 613341 LRAT 604863
6p21.31 Leber congenital amaurosis 15 AR 3 613843 TULP1 602280
6p21.1 Leber congenital amaurosis 18 AD, AR, DD 3 608133 PRPH2 179605
6p21.1 Retinitis pigmentosa 7 and digenic form AD, AR, DD 3 608133 PRPH2 179605
6q14.1 Leber congenital amaurosis 5 AR 3 604537 LCA5 611408
6q16.2 ?Leber congenital amaurosis 19 AR 3 618513 USP45 618439
7q32.1 Leber congenital amaurosis 11 AD 3 613837 IMPDH1 146690
8q22.1 Leber congenital amaurosis 17 AR 3 615360 GDF6 601147
11q12.3 Retinitis pigmentosa 7, digenic form AD, AR, DD 3 608133 ROM1 180721
12q21.32 Leber congenital amaurosis 10 3 611755 CEP290 610142
14q11.2 Leber congenital amaurosis 6 AR 3 613826 RPGRIP1 605446
14q24.1 Leber congenital amaurosis 13 AD, AR 3 612712 RDH12 608830
14q31.3 Leber congenital amaurosis 3 AR 3 604232 SPATA7 609868
14q31.3 Retinitis pigmentosa 94, variable age at onset, autosomal recessive AR 3 604232 SPATA7 609868
17p13.2 Retinitis pigmentosa, juvenile AD, AR 3 604393 AIPL1 604392
17p13.2 Leber congenital amaurosis 4 AD, AR 3 604393 AIPL1 604392
17p13.2 Cone-rod dystrophy AD, AR 3 604393 AIPL1 604392
17p13.1 Leber congenital amaurosis 1 AR 3 204000 GUCY2D 600179
19q13.33 Leber congenital amaurosis 7 3 613829 CRX 602225
▲ Close
ICD+
ORPHA: 65
DO: 0110005
▲ Close

2:
* 608700. NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 1; NMNAT1
Cytogenetic location: 1p36.22, Genomic coordinates (GRCh38): 1:9,942,923-9,996,892
Matching terms: 608700
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1p36.22 Leber congenital amaurosis 9 608553 AR 3
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis 619260 AR 3
▲ Close

3:
* 609237. IQ MOTIF-CONTAINING PROTEIN B1; IQCB1
Cytogenetic location: 3q13.33, Genomic coordinates (GRCh38): 3:121,769,761-121,835,060
Matching terms: 609237
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
3q13.33 Senior-Loken syndrome 5 609254 AR 3
▲ Close

4:
* 609868. SPERMATOGENESIS-ASSOCIATED PROTEIN 7; SPATA7
Cytogenetic location: 14q31.3, Genomic coordinates (GRCh38): 14:88,385,657-88,470,350
Matching terms: 609868
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
14q31.3 Leber congenital amaurosis 3 604232 AR 3
Retinitis pigmentosa 94, variable age at onset, autosomal recessive 604232 AR 3
▲ Close

5:
* 610142. CENTROSOMAL PROTEIN, 290-KD; CEP290
Cytogenetic location: 12q21.32, Genomic coordinates (GRCh38): 12:88,049,016-88,142,088
Matching terms: 610142
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
12q21.32 ?Bardet-Biedl syndrome 14 615991 AR 3
Joubert syndrome 5 610188 AR 3
Leber congenital amaurosis 10 611755 3
Meckel syndrome 4 611134 AR 3
Senior-Loken syndrome 6 610189 AR 3
▲ Close

6:
* 611408. LEBERILIN LCA5; LCA5
Cytogenetic location: 6q14.1, Genomic coordinates (GRCh38): 6:79,484,991-79,538,782
Matching terms: 611408
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
6q14.1 Leber congenital amaurosis 5 604537 AR 3
▲ Close

7:
# 611755. LEBER CONGENITAL AMAUROSIS 10; LCA10
Cytogenetic location: 12q21.32
Matching terms: 611755
► 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
12q21.32 Leber congenital amaurosis 10 611755 3 CEP290 610142
▲ Close
Leber congenital amaurosis - PS204000 - 26 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.22 Leber congenital amaurosis 9 AR 3 608553 NMNAT1 608700
1p31.3 Leber congenital amaurosis 2 AR 3 204100 RPE65 180069
1q31.3 Leber congenital amaurosis 8 AR 3 613835 CRB1 604210
1q32.3 Leber congenital amaurosis 12 AR 3 610612 RD3 180040
2q37.1 Leber congenital amaurosis 16 AR 3 614186 KCNJ13 603208
4q32.1 Retinal dystrophy, early-onset severe AR 3 613341 LRAT 604863
4q32.1 Leber congenital amaurosis 14 AR 3 613341 LRAT 604863
4q32.1 Retinitis pigmentosa, juvenile AR 3 613341 LRAT 604863
6p21.31 Leber congenital amaurosis 15 AR 3 613843 TULP1 602280
6p21.1 Leber congenital amaurosis 18 AD, AR, DD 3 608133 PRPH2 179605
6p21.1 Retinitis pigmentosa 7 and digenic form AD, AR, DD 3 608133 PRPH2 179605
6q14.1 Leber congenital amaurosis 5 AR 3 604537 LCA5 611408
6q16.2 ?Leber congenital amaurosis 19 AR 3 618513 USP45 618439
7q32.1 Leber congenital amaurosis 11 AD 3 613837 IMPDH1 146690
8q22.1 Leber congenital amaurosis 17 AR 3 615360 GDF6 601147
11q12.3 Retinitis pigmentosa 7, digenic form AD, AR, DD 3 608133 ROM1 180721
12q21.32 Leber congenital amaurosis 10 3 611755 CEP290 610142
14q11.2 Leber congenital amaurosis 6 AR 3 613826 RPGRIP1 605446
14q24.1 Leber congenital amaurosis 13 AD, AR 3 612712 RDH12 608830
14q31.3 Leber congenital amaurosis 3 AR 3 604232 SPATA7 609868
14q31.3 Retinitis pigmentosa 94, variable age at onset, autosomal recessive AR 3 604232 SPATA7 609868
17p13.2 Retinitis pigmentosa, juvenile AD, AR 3 604393 AIPL1 604392
17p13.2 Leber congenital amaurosis 4 AD, AR 3 604393 AIPL1 604392
17p13.2 Cone-rod dystrophy AD, AR 3 604393 AIPL1 604392
17p13.1 Leber congenital amaurosis 1 AR 3 204000 GUCY2D 600179
19q13.33 Leber congenital amaurosis 7 3 613829 CRX 602225
▲ Close
ICD+
ORPHA: 65
DO: 0110291
▲ Close

8:
# 612712. LEBER CONGENITAL AMAUROSIS 13; LCA13
RETINITIS PIGMENTOSA 53, INCLUDED; RP53, INCLUDED
Cytogenetic location: 14q24.1
Matching terms: 612712
► 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
14q24.1 Leber congenital amaurosis 13 612712 AD, AR 3 RDH12 608830
▲ Close
Retinitis pigmentosa - PS268000 - 102 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.11 Retinitis pigmentosa 59 AR 3 613861 DHDDS 608172
1p36.11 ?Congenital disorder of glycosylation, type 1bb AR 3 613861 DHDDS 608172
1p34.1 Retinitis pigmentosa 76 AR 3 617123 POMGNT1 606822
1p31.3 Retinitis pigmentosa 20 AR 3 613794 RPE65 180069
1p31.3 Retinitis pigmentosa 87 with choroidal involvement AD 3 618697 RPE65 180069
1p22.1 Retinitis pigmentosa 19 AR 3 601718 ABCA4 601691
1p13.3 Retinitis pigmentosa 32 AR 3 609913 CLCC1 617539
1q21.2 Retinitis pigmentosa 18 AD 3 601414 PRPF3 607301
1q22 Retinitis pigmentosa 35 AR 3 610282 SEMA4A 607292
1q31.3 Retinitis pigmentosa-12 AR 3 600105 CRB1 604210
1q32.3 ?Retinitis pigmentosa 67 AR 3 615565 NEK2 604043
1q41 Retinitis pigmentosa 39 AR 3 613809 USH2A 608400
2p23.3 Retinitis pigmentosa 75 AR 3 617023 AGBL5 615900
2p23.3 ?Retinitis pigmentosa 58 AR 3 613617 ZNF513 613598
2p23.3 Retinitis pigmentosa 71 AR 3 616394 IFT172 607386
2p23.2 Retinitis pigmentosa 54 AR 3 613428 PCARE 613425
2p15 Retinitis pigmentosa 28 AR 3 606068 FAM161A 613596
2q11.2 Retinitis pigmentosa 33 AD 3 610359 SNRNP200 601664
2q13 Retinitis pigmentosa 38 AR 3 613862 MERTK 604705
2q31.3 Retinitis pigmentosa 26 AR 3 608380 CERKL 608381
2q37.1 Retinitis pigmentosa 47, autosomal recessive AR 3 613758 SAG 181031
2q37.1 Retinitis pigmentosa 96, autosomal dominant AD 3 620228 SAG 181031
3q11.2 Retinitis pigmentosa 55 AR 3 613575 ARL6 608845
3q12.3 Retinitis pigmentosa 56 AR 3 613581 IMPG2 607056
3q22.1 Retinitis pigmentosa 4, autosomal dominant or recessive AD, AR 3 613731 RHO 180380
3q25.1 Retinitis pigmentosa 61 3 614180 CLRN1 606397
3q26.2 Retinitis pigmentosa 68 AR 3 615725 SLC7A14 615720
4p16.3 Retinitis pigmentosa-40 AR 3 613801 PDE6B 180072
4p15.32 Retinitis pigmentosa 93 AR 3 619845 CC2D2A 612013
4p15.32 Retinitis pigmentosa 41 AR 3 612095 PROM1 604365
4p12 Retinitis pigmentosa 49 AR 3 613756 CNGA1 123825
4q32-q34 Retinitis pigmentosa 29 AR 2 612165 RP29 612165
5q32 Retinitis pigmentosa 43 AR 3 613810 PDE6A 180071
6p24.2 Retinitis pigmentosa 62 AR 3 614181 MAK 154235
6p21.31 Retinitis pigmentosa 14 AR 3 600132 TULP1 602280
6p21.1 Retinitis pigmentosa 48 AD 3 613827 GUCA1B 602275
6p21.1 Retinitis pigmentosa 7 and digenic form AD, AR, DD 3 608133 PRPH2 179605
6p21.1 Leber congenital amaurosis 18 AD, AR, DD 3 608133 PRPH2 179605
6q12 Retinitis pigmentosa 25 AR 3 602772 EYS 612424
6q14.1 Retinitis pigmentosa 91 AD 3 153870 IMPG1 602870
6q23 Retinitis pigmentosa 63 AD 2 614494 RP63 614494
7p21.1 ?Retinitis pigmentosa 85 AR 3 618345 AHR 600253
7p15.3 Retinitis pigmentosa 42 AD 3 612943 KLHL7 611119
7p14.3 ?Retinitis pigmentosa 9 AD 3 180104 RP9 607331
7q32.1 Retinitis pigmentosa 10 AD 3 180105 IMPDH1 146690
7q34 Retinitis pigmentosa 86 AR 3 618613 KIAA1549 613344
8p23.1 Retinitis pigmentosa 88 AR 3 618826 RP1L1 608581
8p11.21-p11.1 Retinitis pigmentosa 73 AR 3 616544 HGSNAT 610453
8q11.23-q12.1 Retinitis pigmentosa 1 AD, AR 3 180100 RP1 603937
8q22.1 Cone-rod dystrophy 16 AR 3 614500 CFAP418 614477
8q22.1 Retinitis pigmentosa 64 AR 3 614500 CFAP418 614477
9p21.1 Retinitis pigmentosa 31 AD 3 609923 TOPORS 609507
9q32 Retinitis pigmentosa 70 AD 3 615922 PRPF4 607795
10q11.22 ?Retinitis pigmentosa 66 AR 3 615233 RBP3 180290
10q22.1 Retinitis pigmentosa 92 AR 3 619614 HKDC1 617221
10q22.1 Retinitis pigmentosa 79 AD 3 617460 HK1 142600
10q23.1 Cone-rod dystrophy 15 AR 3 613660 CDHR1 609502
10q23.1 Macular dystrophy, retinal AR 3 613660 CDHR1 609502
10q23.1 Retinitis pigmentosa 65 AR 3 613660 CDHR1 609502
10q23.1 Retinitis pigmentosa 44 3 613769 RGR 600342
10q24.32 Retinitis pigmentosa 83 AD 3 618173 ARL3 604695
11p11.2 Retinitis pigmentosa 72 AR 3 616469 ZNF408 616454
11q12.2 Retinitis pigmentosa 98 AR 3 620996 TMEM216 613277
11q12.3 Retinitis pigmentosa, concentric 3 613194 BEST1 607854
11q12.3 Retinitis pigmentosa-50 3 613194 BEST1 607854
11q12.3 Retinitis pigmentosa 7, digenic form AD, AR, DD 3 608133 ROM1 180721
13q14.11 ?Retinitis pigmentosa 97 AD 3 620422 VWA8 617509
14q11.2-q12 Retinitis pigmentosa 27 AD 3 613750 NRL 162080
14q24.1 Leber congenital amaurosis 13 AD, AR 3 612712 RDH12 608830
14q24.3 ?Retinitis pigmentosa 81 AR 3 617871 IFT43 614068
14q31.3 Retinitis pigmentosa 94, variable age at onset, autosomal recessive AR 3 604232 SPATA7 609868
14q31.3 Leber congenital amaurosis 3 AR 3 604232 SPATA7 609868
14q31.3 ?Retinitis pigmentosa 51 AR 3 613464 TTC8 608132
15q23 Retinitis pigmentosa 37 AD, AR 3 611131 NR2E3 604485
15q25.1 Retinitis pigmentosa 90 AR 3 619007 IDH3A 601149
16p13.3 Retinitis pigmentosa 80 AR 3 617781 IFT140 614620
16p12.3-p12.1 Retinitis pigmentosa 22 2 602594 RP22 602594
16q13 Retinitis pigmentosa 74 AR 3 616562 BBS2 606151
16q13 Retinitis pigmentosa 82 with or without situs inversus AR 3 615434 ARL2BP 615407
16q21 Retinitis pigmentosa 45 AR 3 613767 CNGB1 600724
16q22.2 Retinitis pigmentosa 84 AR 3 618220 DHX38 605584
17p13.3 Retinitis pigmentosa 13 AD 3 600059 PRPF8 607300
17q23.2 Retinitis pigmentosa 17 AD 4 600852 RP17 600852
17q25.1 Retinitis pigmentosa 36 3 610599 PRCD 610598
17q25.3 Retinitis pigmentosa 30 3 607921 FSCN2 607643
17q25.3 Retinitis pigmentosa 57 AR 3 613582 PDE6G 180073
19p13.3 Retinitis pigmentosa 77 AR 3 617304 REEP6 609346
19p13.3 Retinitis pigmentosa 95 AR 3 620102 RAX2 610362
19p13.2 Retinitis pigmentosa 78 AR 3 617433 ARHGEF18 616432
19q13.42 Retinitis pigmentosa 11 AD 3 600138 PRPF31 606419
20p13 Retinitis pigmentosa 46 AR 3 612572 IDH3B 604526
20p11.23 Retinitis pigmentosa 69 AR 3 615780 KIZ 615757
20q11.21 Retinitis pigmentosa 89 AD 3 618955 KIF3B 603754
20q13.33 Retinitis pigmentosa 60 AD 3 613983 PRPF6 613979
Xp22.2 ?Retinitis pigmentosa 23 XLR 3 300424 OFD1 300170
Xp21.3-p21.2 ?Retinitis pigmentosa, X-linked recessive, 6 XL 2 312612 RP6 312612
Xp11.4 Retinitis pigmentosa 3 XL 3 300029 RPGR 312610
Xp11.3 Retinitis pigmentosa 2 XL 3 312600 RP2 300757
Xq26-q27 Retinitis pigmentosa 24 2 300155 RP24 300155
Xq28 Retinitis pigmentosa 34 2 300605 RP34 300605
Chr.Y Retinitis pigmentosa, Y-linked YL 2 400004 RPY 400004
Not Mapped Retinitis pigmentosa AR 268000 RP 268000
Leber congenital amaurosis - PS204000 - 26 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.22 Leber congenital amaurosis 9 AR 3 608553 NMNAT1 608700
1p31.3 Leber congenital amaurosis 2 AR 3 204100 RPE65 180069
1q31.3 Leber congenital amaurosis 8 AR 3 613835 CRB1 604210
1q32.3 Leber congenital amaurosis 12 AR 3 610612 RD3 180040
2q37.1 Leber congenital amaurosis 16 AR 3 614186 KCNJ13 603208
4q32.1 Retinal dystrophy, early-onset severe AR 3 613341 LRAT 604863
4q32.1 Leber congenital amaurosis 14 AR 3 613341 LRAT 604863
4q32.1 Retinitis pigmentosa, juvenile AR 3 613341 LRAT 604863
6p21.31 Leber congenital amaurosis 15 AR 3 613843 TULP1 602280
6p21.1 Leber congenital amaurosis 18 AD, AR, DD 3 608133 PRPH2 179605
6p21.1 Retinitis pigmentosa 7 and digenic form AD, AR, DD 3 608133 PRPH2 179605
6q14.1 Leber congenital amaurosis 5 AR 3 604537 LCA5 611408
6q16.2 ?Leber congenital amaurosis 19 AR 3 618513 USP45 618439
7q32.1 Leber congenital amaurosis 11 AD 3 613837 IMPDH1 146690
8q22.1 Leber congenital amaurosis 17 AR 3 615360 GDF6 601147
11q12.3 Retinitis pigmentosa 7, digenic form AD, AR, DD 3 608133 ROM1 180721
12q21.32 Leber congenital amaurosis 10 3 611755 CEP290 610142
14q11.2 Leber congenital amaurosis 6 AR 3 613826 RPGRIP1 605446
14q24.1 Leber congenital amaurosis 13 AD, AR 3 612712 RDH12 608830
14q31.3 Leber congenital amaurosis 3 AR 3 604232 SPATA7 609868
14q31.3 Retinitis pigmentosa 94, variable age at onset, autosomal recessive AR 3 604232 SPATA7 609868
17p13.2 Retinitis pigmentosa, juvenile AD, AR 3 604393 AIPL1 604392
17p13.2 Leber congenital amaurosis 4 AD, AR 3 604393 AIPL1 604392
17p13.2 Cone-rod dystrophy AD, AR 3 604393 AIPL1 604392
17p13.1 Leber congenital amaurosis 1 AR 3 204000 GUCY2D 600179
19q13.33 Leber congenital amaurosis 7 3 613829 CRX 602225
▲ Close
ICD+
ORPHA: 65, 791
DO: 0110330
▲ Close

9:
# 613341. LEBER CONGENITAL AMAUROSIS 14; LCA14
RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED, INCLUDED
Cytogenetic locations: 4q32.1,
Matching terms: 613341
► 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
4q32.1 Retinal dystrophy, early-onset severe 613341 AR 3 LRAT 604863
4q32.1 Leber congenital amaurosis 14 613341 AR 3 LRAT 604863
4q32.1 Retinitis pigmentosa, juvenile 613341 AR 3 LRAT 604863
▲ Close
Leber congenital amaurosis - PS204000 - 26 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.22 Leber congenital amaurosis 9 AR 3 608553 NMNAT1 608700
1p31.3 Leber congenital amaurosis 2 AR 3 204100 RPE65 180069
1q31.3 Leber congenital amaurosis 8 AR 3 613835 CRB1 604210
1q32.3 Leber congenital amaurosis 12 AR 3 610612 RD3 180040
2q37.1 Leber congenital amaurosis 16 AR 3 614186 KCNJ13 603208
4q32.1 Retinal dystrophy, early-onset severe AR 3 613341 LRAT 604863
4q32.1 Leber congenital amaurosis 14 AR 3 613341 LRAT 604863
4q32.1 Retinitis pigmentosa, juvenile AR 3 613341 LRAT 604863
6p21.31 Leber congenital amaurosis 15 AR 3 613843 TULP1 602280
6p21.1 Leber congenital amaurosis 18 AD, AR, DD 3 608133 PRPH2 179605
6p21.1 Retinitis pigmentosa 7 and digenic form AD, AR, DD 3 608133 PRPH2 179605
6q14.1 Leber congenital amaurosis 5 AR 3 604537 LCA5 611408
6q16.2 ?Leber congenital amaurosis 19 AR 3 618513 USP45 618439
7q32.1 Leber congenital amaurosis 11 AD 3 613837 IMPDH1 146690
8q22.1 Leber congenital amaurosis 17 AR 3 615360 GDF6 601147
11q12.3 Retinitis pigmentosa 7, digenic form AD, AR, DD 3 608133 ROM1 180721
12q21.32 Leber congenital amaurosis 10 3 611755 CEP290 610142
14q11.2 Leber congenital amaurosis 6 AR 3 613826 RPGRIP1 605446
14q24.1 Leber congenital amaurosis 13 AD, AR 3 612712 RDH12 608830
14q31.3 Leber congenital amaurosis 3 AR 3 604232 SPATA7 609868
14q31.3 Retinitis pigmentosa 94, variable age at onset, autosomal recessive AR 3 604232 SPATA7 609868
17p13.2 Retinitis pigmentosa, juvenile AD, AR 3 604393 AIPL1 604392
17p13.2 Leber congenital amaurosis 4 AD, AR 3 604393 AIPL1 604392
17p13.2 Cone-rod dystrophy AD, AR 3 604393 AIPL1 604392
17p13.1 Leber congenital amaurosis 1 AR 3 204000 GUCY2D 600179
19q13.33 Leber congenital amaurosis 7 3 613829 CRX 602225
▲ Close
ICD+
ORPHA: 65, 791
DO: 0110188
▲ Close

10:
# 614186. LEBER CONGENITAL AMAUROSIS 16; LCA16
Cytogenetic location: 2q37.1
Matching terms: 614186
► 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
2q37.1 Leber congenital amaurosis 16 614186 AR 3 KCNJ13 603208
▲ Close
Leber congenital amaurosis - PS204000 - 26 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.22 Leber congenital amaurosis 9 AR 3 608553 NMNAT1 608700
1p31.3 Leber congenital amaurosis 2 AR 3 204100 RPE65 180069
1q31.3 Leber congenital amaurosis 8 AR 3 613835 CRB1 604210
1q32.3 Leber congenital amaurosis 12 AR 3 610612 RD3 180040
2q37.1 Leber congenital amaurosis 16 AR 3 614186 KCNJ13 603208
4q32.1 Retinal dystrophy, early-onset severe AR 3 613341 LRAT 604863
4q32.1 Leber congenital amaurosis 14 AR 3 613341 LRAT 604863
4q32.1 Retinitis pigmentosa, juvenile AR 3 613341 LRAT 604863
6p21.31 Leber congenital amaurosis 15 AR 3 613843 TULP1 602280
6p21.1 Leber congenital amaurosis 18 AD, AR, DD 3 608133 PRPH2 179605
6p21.1 Retinitis pigmentosa 7 and digenic form AD, AR, DD 3 608133 PRPH2 179605
6q14.1 Leber congenital amaurosis 5 AR 3 604537 LCA5 611408
6q16.2 ?Leber congenital amaurosis 19 AR 3 618513 USP45 618439
7q32.1 Leber congenital amaurosis 11 AD 3 613837 IMPDH1 146690
8q22.1 Leber congenital amaurosis 17 AR 3 615360 GDF6 601147
11q12.3 Retinitis pigmentosa 7, digenic form AD, AR, DD 3 608133 ROM1 180721
12q21.32 Leber congenital amaurosis 10 3 611755 CEP290 610142
14q11.2 Leber congenital amaurosis 6 AR 3 613826 RPGRIP1 605446
14q24.1 Leber congenital amaurosis 13 AD, AR 3 612712 RDH12 608830
14q31.3 Leber congenital amaurosis 3 AR 3 604232 SPATA7 609868
14q31.3 Retinitis pigmentosa 94, variable age at onset, autosomal recessive AR 3 604232 SPATA7 609868
17p13.2 Retinitis pigmentosa, juvenile AD, AR 3 604393 AIPL1 604392
17p13.2 Leber congenital amaurosis 4 AD, AR 3 604393 AIPL1 604392
17p13.2 Cone-rod dystrophy AD, AR 3 604393 AIPL1 604392
17p13.1 Leber congenital amaurosis 1 AR 3 204000 GUCY2D 600179
19q13.33 Leber congenital amaurosis 7 3 613829 CRX 602225
▲ Close
ICD+
ORPHA: 65
DO: 0110118
▲ Close

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Search: 146690 180040 180069 204000 204100 600179 602225 603208 604210 604232 604392 604393 604537 604863 605446 608553 608700 608830 609237 609868 610142 610612 611408 611755 612712 613341 613826 613829 613835 613837 613843 614186 (Search in: MIM number)
Results: 32 entries.

1:
# 608553. LEBER CONGENITAL AMAUROSIS 9; LCA9
Cytogenetic location: 1p36.22
Matching terms: 608553

2:
* 608700. NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 1; NMNAT1
Cytogenetic location: 1p36.22, Genomic coordinates (GRCh38): 1:9,942,923-9,996,892
Matching terms: 608700

3:
* 609237. IQ MOTIF-CONTAINING PROTEIN B1; IQCB1
Cytogenetic location: 3q13.33, Genomic coordinates (GRCh38): 3:121,769,761-121,835,060
Matching terms: 609237

4:
* 609868. SPERMATOGENESIS-ASSOCIATED PROTEIN 7; SPATA7
Cytogenetic location: 14q31.3, Genomic coordinates (GRCh38): 14:88,385,657-88,470,350
Matching terms: 609868

5:
* 610142. CENTROSOMAL PROTEIN, 290-KD; CEP290
Cytogenetic location: 12q21.32, Genomic coordinates (GRCh38): 12:88,049,016-88,142,088
Matching terms: 610142

6:
* 611408. LEBERILIN LCA5; LCA5
Cytogenetic location: 6q14.1, Genomic coordinates (GRCh38): 6:79,484,991-79,538,782
Matching terms: 611408

7:
# 611755. LEBER CONGENITAL AMAUROSIS 10; LCA10
Cytogenetic location: 12q21.32
Matching terms: 611755

8:
# 612712. LEBER CONGENITAL AMAUROSIS 13; LCA13
RETINITIS PIGMENTOSA 53, INCLUDED; RP53, INCLUDED
Cytogenetic location: 14q24.1
Matching terms: 612712

9:
# 613341. LEBER CONGENITAL AMAUROSIS 14; LCA14
RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED, INCLUDED
Cytogenetic locations: 4q32.1,
Matching terms: 613341

10:
# 614186. LEBER CONGENITAL AMAUROSIS 16; LCA16
Cytogenetic location: 2q37.1
Matching terms: 614186


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 14, 2025