|
Disease
|
OMIM
|
Locus
|
Cyto band
|
|
1p36 Deletion Syndrome
|
607872
|
P21127-10
|
1p36.33
|
|
1q21.1 Deletion Syndrome, 1.35-Mb
|
612474
|
N/A
|
1q21.1
|
|
3q29 Microdeletion Syndrome
|
609425
|
DLG1, PAK2
|
3q29
|
|
15q13.3 Microdeletion Syndrome
|
612001
|
N/A
|
15q13.2-q13.3
|
|
17q21.31 Microdeletion Syndrome
|
610443
|
CRHR1, MAPT
|
17q21.31
|
|
22q11.2 Deletion Syndrome, Distal
|
611867
|
N/A
|
22q11.21-q11.23
|
|
22q13.3 Deletion Syndrome
|
606232
|
SHANK3
|
22q13.33
|
|
Adenomatous Polyposis Of The Colon; Apc
|
175100
|
APC
|
5q22.2
|
|
Adrenal Hypoplasia, Congenital; Ahc
|
300200
|
NR0B1
|
Xp21.2
|
|
Alagille Syndrome 1; Algs1
|
118450
|
JAG1
|
20p12.2
|
|
Angelman Syndrome; As
|
105830
|
UBE3A
ATP10A
MECP2
|
15q11.2
15q12
Xq28
|
|
Aniridia; An
|
106210
|
PAX6
|
11p13
|
|
Autism
|
209850
|
N/A
RPL10
|
16p11.2
Xq28
|
|
Autism, X-Linked, Susceptibility To, 2
|
300495
|
NLGN4X
|
Xp22.31-p22.32
|
|
Autism, X-Linked, Susceptibility To, 1
|
300425
|
NLGN3
|
Xq13.1
|
|
Autism, X-Linked, Susceptibility To, 3
|
300496
|
MECP2
|
Xq28
|
|
Basal Cell Nevus Syndrome; Bcns
|
109400
|
PTCH1
|
9q22.32
|
|
Beckwith-Wiedemann Syndrome; Bws
|
130650
|
NSD1
H19, IGF2
KCNQ1
CDKN1C
|
5q35.2-q35.3
11p15.5
11p15.4-p15.5
11p15.4
|
|
Brachydactyly-Mental Retardation Syndrome; Bdmr
|
600430
|
Z51342
|
2q37.3
|
|
Branchiootorenal Syndrome 1; Bor1
|
113650
|
EYA1
|
8q13.3
|
|
Bruton Agammaglobulinemia Tyrosine Kinase; Btk
|
300300
|
BTK
|
Xq22.1
|
|
Buschke-Ollendorff Syndrome
|
166700
|
N/A
|
12q14.2-q15
|
|
Campomelic Dysplasia
|
114290
|
SOX9
|
17q24.3
|
|
Cat Eye Syndrome; Ces
|
115470
|
CECR5, CECR1, CECR6
|
22q11.1
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a; Cmt1a
|
118220
|
PMP22
|
17p12
|
|
Charcot-Marie-Tooth Disease, X-Linked, 1; Cmtx1
|
302800
|
GJB1
|
Xq13.1
|
|
Charge Syndrome
|
214800
|
CHD7
|
8q12.2
|
|
Cleidocranial Dysplasia; Ccd
|
119600
|
RUNX2
|
6p12.3
|
|
Cornelia De Lange Syndrome 1; Cdls1
|
122470
|
NIPBL
|
5p13.2
|
|
Cri-Du-Chat Syndrome
|
123450
|
TERT
Z23908
|
5p15.33
5p15.2
|
|
Dandy-Walker Syndrome; Dws
|
220200
|
ZIC1, ZIC4
|
3q24
|
|
Diaphragmatic Hernia, Congenital
|
142340
|
CHD2
NR2F2
|
15q26.1
15q26.2
|
|
Digeorge Syndrome/Velocardiofacial Syndrome Spectrum Of Malformation 2
|
601362
|
D10S293
NEBL
|
10p14
10p12.31
|
|
Digeorge Syndrome; Dgs
|
188400
|
HIRA, TBX1
|
22q11.21
|
|
Dosage-Sensitive Sex Reversal; Dss
|
300018
|
NR0B1
|
Xp21.2
|
|
Down Syndrome
|
190685
|
DSCR2
GATA1
|
21q22.2
Xp11.23
|
|
Feingold Syndrome
|
164280
|
MYCN
|
2p24.3
|
|
Fragile X Mental Retardation Syndrome
|
300624
|
FMR1
|
Xq27.3
|
|
Greig Cephalopolysyndactyly Syndrome; Gcps
|
175700
|
GLI3
|
7p14.1
|
|
Heterotaxy, Visceral, 1, X-Linked; Htx1
|
306955
|
ZIC3
|
Xq26.3
|
|
Holoprosencephaly
|
236100
|
TMEM1
|
21q22.3
|
|
Holoprosencephaly 2; Hpe2
|
157170
|
SIX3
|
2p21
|
|
Holoprosencephaly 3; Hpe3
|
142945
|
SHH
|
7q36.3
|
|
Holoprosencephaly 4; Hpe4
|
142946
|
TGIF1
|
18p11.31
|
|
Holoprosencephaly 5; Hpe5
|
609637
|
ZIC2
|
13q32.3
|
|
Hyperglycerolemia
|
307030
|
GK3P
|
Xp21.2
|
|
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
|
146255
|
GATA3
|
10p14
|
|
Ichthyosis, X-Linked; Xli
|
308100
|
STS
|
Xp22.31
|
|
Jacobsen Syndrome; Jbs
|
147791
|
N/A
|
11q23.1-q24.1
|
|
Johanson-Blizzard Syndrome; Jbs
|
243800
|
UBR1
|
15q15.2
|
|
Joubert Syndrome 4; Jbts4
|
609583
|
NPHP1
|
2q13
|
|
Kabuki Syndrome
|
147920
|
N/A
|
8p22
|
|
Kallmann Syndrome 1; Kal1
|
308700
|
KAL1
|
Xp22.31
|
|
Leri-Weill Dyschondrosteosis; Lwd
|
127300
|
SHOX¹
|
Xp22.33
|
|
Lissencephaly, X-Linked, 1; Lisx1
|
300067
|
DCX
|
Xq22.3-q23
|
|
Mental Retardation, X-Linked, With Panhypopituitarism
|
300123
|
SOX3
|
Xq27.1
|
|
Metachromatic Leukodystrophy
|
250100
|
ARSA
|
22q13.33
|
|
Microphthalmia, Syndromic 7; Mcops7
|
309801
|
HCCS, ARHGAP6
|
Xp22.2
|
|
Miller-Dieker Lissencephaly Syndrome; Mdls
|
247200
|
PAFAH1B1, YWHAE, HIC1
|
17p13.3
|
|
Mitochondrial Complex I Deficiency
|
252010
|
NDUFS2
NDUFS1
NDUFS6
NDUFS4
NDUFA12L
PTPMT1
NDUFS8, NDUFV1
NDUFV2
NDUFS7
|
1q23.3
2q33.3
5p15.33
5q11.2
5q12.1
11p11.2
11q13.2
18p11.22
19p13.3
|
|
Muscular Dystrophy, Becker Type; Bmd
|
300376
|
DMD
DXS7
|
Xp21.1-p21.2
Xp11.3
|
|
Muscular Dystrophy, Duchenne Type; Dmd
|
310200
|
DMD
|
Xp21.1-p21.2
|
|
Nail-Patella Syndrome; Nps
|
161200
|
LMX1B
|
9q33.3
|
|
Nephronophthisis 1; Nphp1
|
256100
|
NPHP1
|
2q13
|
|
Neurofibromatosis, Type I; Nf1
|
162200
|
NF1
|
17q11.2
|
|
Neurofibromatosis, Type Ii; Nf2
|
101000
|
NF2
|
22q12.2
|
|
Neuropathy, Hereditary, With Liability To Pressure Palsies; Hnpp
|
162500
|
PMP22
|
17p12
|
|
Noonan Syndrome 1; Ns1
|
163950
|
PTPN11
|
12q24.13
|
|
Pelizaeus-Merzbacher Disease; Pmd
|
312080
|
PLP1
|
Xq22.2
|
|
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis; Pkdts
|
600273
|
PKD1
|
16p13.3
|
|
Potocki-Lupski Syndrome; Ptls
|
610883
|
RAI1, MFAP4, FLII
|
17p11.2
|
|
Potocki-Shaffer Syndrome
|
601224
|
ALX4, EXT2
|
11p11.2
|
|
Prader-Willi Syndrome; Pws
|
176270
|
SIM1
|
6q16.3
|
|
Prader-Willi Syndrome; Pws
|
176270
|
SNRPN, NDN
|
15q11.2
|
|
Retinoblastoma; Rb1
|
180200
|
RB1
|
13q14.2
|
|
Rett Syndrome; Rtt
|
312750
|
CDKL5
MECP2
|
Xp22.13
Xq28
|
|
Rieger Syndrome, Type 1; Rieg1
|
180500
|
PITX2
|
4q25
|
|
Rubinstein-Taybi Syndrome; Rsts
|
180849
|
CREBBP
|
16p13.3
|
|
Saethre-Chotzen Syndrome; Scs
|
101400
|
TWIST1
|
7p21.1
|
|
Sex-Determining Region Y; Sry
|
480000
|
SRY
|
Yp11.31
|
|
Smith-Magenis Syndrome; Sms
|
182290
|
RAI1, MFAP4, FLII
|
17p11.2
|
|
Sotos Syndrome
|
117550
|
NSD1
|
5q35.2-q35.3
|
|
Spermatogenic Failure, Nonobstructive, Y-Linked
|
415000
|
USP9Y, UTY
CDY2B
JARID1D
NR_001537,
DAZ3, DAZ1,
DAZ2
|
Yq11.21
Yq11.221
Yq11.222
Yq11.223
|
|
Split-Hand/Foot Malformation 1; Shfm1
|
183600
|
SHFM1
|
7q21.3
|
|
Split-Hand/Foot Malformation 3; Shfm3
|
600095
|
FBXW4
|
10q24.32
|
|
Split-Hand/Foot Malformation 4; Shfm4
|
605289
|
TP63
|
3q28
|
|
Split-Hand/Foot Malformation 5; Shfm5
|
606708
|
DLX1, EVX2
|
2q31.1
|
|
Synpolydactyly 1; Spd1
|
186000
|
HOXD13
|
2q31.1
|
|
Townes-Brocks Syndrome; Tbs
|
107480
|
SALL1
|
16q12.1
|
|
Trichorhinophalangeal Syndrome, Type I; Trps1
|
190350
|
TRPS1
|
8q23.3
|
|
Trichorhinophalangeal Syndrome, Type Ii; Trps2
|
150230
|
TRPS1
EXT1
|
8q23.3
8q24.11
|
|
Tuberous Sclerosis; Ts
|
191100
|
TSC1
TSC2
|
9q34.13
16p13.3
|
|
Velocardiofacial Syndrome
|
192430
|
ARVCF, TBX1
|
22q11.21
|
|
Williams-Beuren Region Duplication Syndrome
|
609757
|
N/A
|
7q11.23
|
|
Williams-Beuren Syndrome; Wbs
|
194050
|
GTF2IRD1,
MLXIPL, BAZ1B,
ELN, RFC2,
WBSCR22, FKBP6,
GTF2I, LAT2,
BCL7B, TBL2,
CLIP2, EIF4H,
LIMK1, WBSCR27,
WBSCR16, FZD9,
WBSCR23
|
7q11.23
|
|
Wilms Tumor 1; Wt1
|
194070
|
WT1
|
11p13
|
|
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation
|
194072
|
PAX6
|
11p13
|
|
Wolf-Hirschhorn Syndrome; Whs
|
194190
|
WHSC1
MSX1
|
4p16.3
4p16.2
|