Search results for mental retardation syndrome

2282 hits were found for mental retardation syndrome

# Family MCID Name MIFTS Score
1
P MNT135 Mental Retardation, X-Linked, Syndromic 13 36 4.440
2
RNP003 Renpenning Syndrome 1 53 4.420
3
PTT059 Pettigrew Syndrome 40 3.854
4
MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 29 3.689
5
LBS001 Lubs X-Linked Mental Retardation Syndrome 41 3.442
6
P FRG001 Fragile X Syndrome 69 3.379
7
P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 50 3.320
8
MSS001 Masa Syndrome 46 3.209
9
PRT052 Partington X-Linked Mental Retardation Syndrome 42 3.168
10
ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 47 3.126
11
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 60 3.095
12
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 31 3.049
13
MHM001 Mehmo Syndrome 30 3.047
14
MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38 2.970
15
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 34 2.961
16
WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44 2.961
17
P MWT001 Mowat-Wilson Syndrome 47 2.913
18
WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 51 2.850
19
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 28 2.785
20
c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 21 2.725
21
WCK001 Wieacker-Wolff Syndrome 33 2.718
22
CWC001 Cowchock Syndrome 36 2.674
23
BRK009 Birk-Barel Mental Retardation Dysmorphism Syndrome 33 2.657
24
CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23 2.633
25
ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 34 2.623
26
WDH003 Woodhouse-Sakati Syndrome 47 2.621
27
ART002 Arts Syndrome 41 2.619
28
MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 25 2.608
29
c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23 2.596
30
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30 2.567
31
P CFF008 Coffin-Siris Syndrome 1 59 2.549
32
P HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 31 2.525
33
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42 2.493
34
ARM006 Armfield X-Linked Mental Retardation Syndrome 21 2.475
35
c BRT038 Baraitser-Winter Syndrome 1 37 2.454
36
CHR639 Chromosome Xp11.22 Duplication Syndrome 15 2.452
37
MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 21 2.442
38
c MNT301 Mental Retardation, X-Linked 21 23 2.434
39
MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 32 2.419
40
MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 30 2.389
41
BRJ001 Borjeson-Forssman-Lehmann Syndrome 54 2.387
42
c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 19 2.368
43
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 25 2.362
44
c MNT296 Mental Retardation, X-Linked, Syndromic 34 25 2.348
45
MNT307 Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 24 2.344
46
c MNT191 Mental Retardation, X-Linked, Syndromic 17 22 2.307
47
KBG001 Kbg Syndrome 51 2.273
48
STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 22 2.271
49
P MNT319 Mental Retardation, Autosomal Dominant 20 28 2.268
50
PRT055 Prieto X-Linked Mental Retardation Syndrome 30 2.265
51
c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22 2.258
52
c MNT155 Mental Retardation, Autosomal Recessive 2 20 2.255
53
FLP001 Filippi Syndrome 32 2.222
54
SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 32 2.215
55
MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 27 2.193
56
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 40 2.182
57
c MNT207 Mental Retardation, X-Linked, Syndromic 32 21 2.169
58
CRB151 Cerebral Creatine Deficiency Syndrome 1 50 2.165
59
SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 45 2.156
60
WSM002 Waisman Syndrome 25 2.132
61
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 2.130
62
CHR543 Chromosome 2q37 Deletion Syndrome 34 2.122
63
MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 23 2.118
64
c MNT196 Mental Retardation, X-Linked 92 19 2.118
65
MNT057 Mental Retardation, X-Linked, Syndromic, Raymond Type 18 2.114
66
MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 32 2.107
67
MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 20 2.099
68
SYN092 Syndromic X-Linked Intellectual Disability Cabezas Type 17 2.092
69
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 19 2.088
70
HSD004 Hsd10 Mitochondrial Disease 30 2.060
71
c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41 2.035
72
INS024 Insulin-Like Growth Factor I 83 2.033
73
c CFF010 Coffin-Siris Syndrome 3 25 2.004
74
c CFF009 Coffin-Siris Syndrome 4 24 2.004
75
c CFF007 Coffin-Siris Syndrome 2 24 1.999
76
MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 29 1.985
77
CHR174 Christianson Syndrome 39 1.976
78
CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 19 1.973
79
DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 38 1.970
80
OLV004 Oliver-Mcfarlane Syndrome 33 1.965
81
c MNT150 Mental Retardation, Autosomal Recessive 15 22 1.961
82
c MNT154 Mental Retardation, Autosomal Recessive 14 19 1.961
83
c MNT151 Mental Retardation, Autosomal Recessive 18 17 1.961
84
GLL028 Gillespie Syndrome 33 1.959
85
c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 21 1.942
86
XLN134 X-Linked Intellectual Disability, Siderius Type 19 1.942
87
P FNG006 Feingold Syndrome 1 44 1.933
88
ABD008 Abidi X-Linked Mental Retardation Syndrome 17 1.929
89
OPT054 Opitz-Kaveggia Syndrome 45 1.922
90
GNT031 Genitopatellar Syndrome 43 1.908
91
SCH074 Schuurs-Hoeijmakers Syndrome 25 1.905
92
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37 1.868
93
P BRT040 Baraitser-Winter Syndrome 36 1.859
94
ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 23 1.852
95
MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42 1.840
96
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 35 1.829
97
c MNT185 Mental Retardation, Autosomal Dominant 7 26 1.826
98
ART103 Arthrogryposis, Mental Retardation, and Seizures 26 1.818
99
c MNT157 Mental Retardation, Autosomal Dominant 18 24 1.804
100
c MNT159 Mental Retardation, Autosomal Dominant 19 20 1.800
101
c MNT321 Mental Retardation, Autosomal Recessive 37 22 1.799
102
MNT254 Mental Retardation Syndrome, Mietens-Weber Type 22 1.790
103
CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 42 1.777
104
ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 20 1.774
105
c MNT197 Mental Retardation, X-Linked, Syndromic 9 20 1.772
106
c MNT246 Mental Retardation, Autosomal Dominant 38 23 1.770
107
MLS013 Miles-Carpenter Syndrome 28 1.769
108
ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 24 1.762
109
ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 24 1.761
110
LJN003 Lujan-Fryns Syndrome 33 1.759
111
SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 11 1.752
112
c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 20 1.746
113
SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 9 1.745
114
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 31 1.742
115
c SPS020 Spastic Paraplegia 1 20 1.738
116
c GLL038 Galloway-Mowat Syndrome 1 37 1.727
117
ALL001 Allan-Herndon-Dudley Syndrome 49 1.723
118
NCL006 Nicolaides-Baraitser Syndrome 45 1.701
119
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 21 1.701
120
SCT004 Scott Bryant Graham Syndrome 18 1.695
121
HLS003 Helsmoortel-Van Der Aa Syndrome 24 1.691
122
c MNT226 Mental Retardation, Autosomal Dominant 31 22 1.670
123
MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 22 1.641
124
c MNT213 Mental Retardation, Autosomal Recessive 40 22 1.638
125
TMP011 Temple-Baraitser Syndrome 32 1.633
126
c MNT166 Mental Retardation, Autosomal Recessive 39 21 1.631
127
c MNT179 Mental Retardation, Autosomal Dominant 21 20 1.631
128
c MNT212 Mental Retardation, Autosomal Dominant 26 26 1.630
129
c MNT216 Mental Retardation, Autosomal Recessive 41 21 1.628
130
c MNT183 Mental Retardation, Autosomal Recessive 36 20 1.628
131
c MNT211 Mental Retardation, Autosomal Dominant 23 21 1.627
132
JWD001 Jawad Syndrome 25 1.620
133
PCD002 Pcdh19-Related Female-Limited Epilepsy 15 1.607
134
CFF002 Coffin-Lowry Syndrome 58 1.601
135
KCN019 Kcnk9 Imprinting Syndrome 10 1.596
136
BRK011 Brooks-Wisniewski-Brown Syndrome 25 1.592
137
P PTT014 Pitt-Hopkins Syndrome 52 1.581
138
BLB005 Beaulieu-Boycott-Innes Syndrome 25 1.581
139
XGB001 Xia-Gibbs Syndrome 19 1.577
140
SLT014 Salt and Pepper Developmental Regression Syndrome 37 1.577
141
RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 21 1.571
142
EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 23 1.570
143
c MNT295 Mental Retardation, X-Linked, Syndromic 33 25 1.568
144
HMM004 Hamamy Syndrome 27 1.568
145
RTN207 Retinopathy, Pigmentary, and Mental Retardation 19 1.560
146
ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 29 1.551
147
P ALP076 Alopecia-Mental Retardation Syndrome 1 16 1.550
148
CHR506 Choroideremia, Deafness, and Mental Retardation 24 1.546
149
MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 24 1.543
150
KFM001 Kaufman Oculocerebrofacial Syndrome 36 1.540
151
AMM001 Amme Complex 16 1.537
152
CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 30 1.534
153
SYN090 Syndromic X-Linked Intellectual Disability Turner Type 10 1.528
154
P TRC102 Trichothiodystrophy 1, Photosensitive 59 1.524
155
WHT019 White-Sutton Syndrome 23 1.524
156
FLL034 Fallot Complex with Severe Mental and Growth Retardation 17 1.515
157
c HYP593 Hyperphosphatasia with Mental Retardation Syndrome 5 17 1.512
158
c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 22 1.511
159
MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 21 1.511
160
CRN293 Craniosynostosis-Mental Retardation-Clefting Syndrome 16 1.511
161
ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 19 1.510
162
HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 13 1.509
163
c ALP075 Alopecia-Mental Retardation Syndrome 2 11 1.506
164
c ALP063 Alopecia-Mental Retardation Syndrome 3 10 1.505
165
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53 1.505
166
XLN197 X-Linked Intellectual Disability-Plagiocephaly Syndrome 16 1.497
167
AYM001 Ayme-Gripp Syndrome 40 1.497
168
DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 14 1.495
169
CTR173 Cataract, Ataxia, Short Stature, and Mental Retardation 16 1.484
170
OHD004 Ohdo Syndrome 41 1.479
171
SCH022 Schimke X-Linked Mental Retardation Syndrome 15 1.476
172
MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 17 1.473
173
CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 42 1.468
174
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 60 1.468
175
MNT315 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 14 1.457
176
BLP010 Blepharophimosis Intellectual Disability Syndromes 15 1.457
177
OHD003 Ohdo Syndrome, X-Linked 23 1.450
178
c MNT298 Mental Retardation, X-Linked, Syndromic, 35 23 1.447
179
MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 21 1.446
180
c MNT248 Mental Retardation, X-Linked 102 22 1.443
181
c MNT270 Mental Retardation, Autosomal Recessive 53 23 1.437
182
c MNT234 Mental Retardation, Autosomal Recessive 48 21 1.435
183
c MNT262 Mental Retardation, Autosomal Dominant 42 22 1.432
184
c MNT273 Mental Retardation, Autosomal Dominant 44 21 1.432
185
RCH002 Richards-Rundle Syndrome 30 1.431
186
c MNT241 Mental Retardation, Autosomal Dominant 32 23 1.430
187
c MNT244 Mental Retardation, Autosomal Recessive 49 20 1.430
188
c MNT181 Mental Retardation, Autosomal Recessive 35 22 1.424
189
SVR060 Severe X-Linked Intellectual Disability, Gustavson Type 8 1.417
190
TMT003 Temtamy Syndrome 29 1.414
191
c RBN021 Rubinstein-Taybi Syndrome 1 50 1.405
192
GMS002 Gms Syndrome 20 1.388
193
KHR001 Kahrizi Syndrome 21 1.375
194
c MCR262 Microphthalmia, Syndromic 4 23 1.373
195
MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 23 1.372
196
CKS001 Ck Syndrome 27 1.358
197
LSC001 Lesch-Nyhan Syndrome 62 1.358
198
SMT020 Smith-Kingsmore Syndrome 29 1.351
199
NTH001 Netherton Syndrome 60 1.350
200
BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 28 1.350
201
WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 15 1.349
202
WVR001 Weaver Syndrome 61 1.349
203
TKN001 Takenouchi-Kosaki Syndrome 30 1.332
204
ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 23 1.323
205
ERL033 Early-Onset Parkinsonism-Intellectual Disability Syndrome 17 1.317
206
HYP688 Hypospadias-Mental Retardation Syndrome 18 1.313
207
OST149 Osteolysis Syndrome, Recessive 19 1.313
208
DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 18 1.304
209
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 30 1.303
210
DBW001 Dubowitz Syndrome 44 1.302
211
P SJG002 Sjogren-Larsson Syndrome 52 1.298
212
RDL026 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 19 1.297
213
STC008 Stocco Dos Santos Syndrome 10 1.297
214
P SMP003 Simpson-Golabi-Behmel Syndrome 54 1.295
215
TRN026 Tranebjaerg Svejgaard Syndrome 9 1.291
216
ADN078 Adnp Syndrome 13 1.288
217
HLL013 Hall-Riggs Mental Retardation Syndrome 22 1.285
218
PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 16 1.276
219
CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16 1.272
220
CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 21 1.271
221
RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 21 1.271
222
MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 15 1.270
223
MNT255 Mental Retardation and Psoriasis 15 1.269
224
BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 20 1.268
225
MNT028 Mental Retardation Smith Fineman Myers Type 14 1.264
226
SYN093 Syndromic X-Linked Intellectual Disability Raymond Type 9 1.264
227
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 24 1.263
228
INT288 Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome 8 1.261
229
CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 19 1.261
230
MNT308 Mental Retardation with Optic Atrophy, Deafness, and Seizures 19 1.250
231
ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 19 1.246
232
MNT256 Mental Retardation, Buenos Aires Type 21 1.243
233
ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 11 1.243
234
HNN001 Hennekam Syndrome 50 1.239
235
ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 18 1.237
236
PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 17 1.237
237
LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 16 1.236
238
STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26 1.234
239
CRM012 Cree Mental Retardation Syndrome 13 1.234
240
WLF012 Wolff Mental Retardation Syndrome 17 1.233
241
c CNG191 Congenital Disorder of Glycosylation, Type Iia 35 1.229
242
BRC121 Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 18 1.212
243
c MNT282 Mental Retardation, Autosomal Recessive 55 20 1.201
244
c MNT239 Mental Retardation, Autosomal Dominant 35 20 1.196
245
c MNT245 Mental Retardation, Autosomal Dominant 36 19 1.196
246
ULN022 Ulnar Hypoplasia with Mental Retardation 16 1.194
247
TMT002 Temtamy Preaxial Brachydactyly Syndrome 30 1.194
248
CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 18 1.193
249
c WRB002 Warburg Micro Syndrome 1 42 1.192
250
MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 20 1.192
251
SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 14 1.192
252
SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 14 1.192
253
INT090 Intellectual Deficit Buenos-Aires Type 10 1.191
254
ULN019 Ulna Hypoplasia-Intellectual Disability Syndrome 15 1.184
255
SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 21 1.177
256
KZN001 Kuzniecky Andermann Syndrome 5 1.174
257
RRD001 Reardon Wilson Cavanagh Syndrome 10 1.136
258
WDM004 Wiedemann-Steiner Syndrome 42 1.132
259
AKS001 Akesson Syndrome 6 1.127
260
MRT007 Martsolf Syndrome 41 1.120
261
MGL033 Megalocornea-Mental Retardation Syndrome 28 1.109
262
LBN005 Lubani-Al Saleh-Teebi Syndrome 7 1.109
263
P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 33 1.101
264
OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 10 1.100
265
ALD006 Aldred Syndrome 6 1.100
266
DBR002 De Barsy Syndrome 38 1.089
267
KNN010 Kennerknecht Syndrome 19 1.075
268
CRT027 Cartwright Nelson Fryns Syndrome 6 1.075
269
OLV002 Oliver Syndrome 41 1.074
270
2Q3001 2q37 Deletion Syndrome 14 1.064
271
FNT003 Fountain Syndrome 25 1.060
272
GRR002 Gurrieri Syndrome 25 1.058
273
MCR052 Microcephaly Microcornea Syndrome Seemanova Type 21 1.057
274
P ALP068 Alopecia-Intellectual Disability Syndrome 23 1.054
275
BHR001 Behr Syndrome 36 1.053
276
PLL004 Pallister W Syndrome 23 1.051
277
MCR306 Microcephaly-Deafness Syndrome 20 1.051
278
OCL043 Oculorenocerebellar Syndrome 20 1.049
279
RSS027 Russell-Silver Syndrome, X-Linked 17 1.037
280
c BMN004 Biemond Syndrome Ii 21 1.037
281
MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 12 1.037
282
ZLT002 Zlotogora Syndrome 14 1.036
283
MGL027 Megalocornea-Intellectual Disability Syndrome 22 1.033
284
c DFN036 Deafness, X-Linked 2 36 1.032
285
RCH010 Richieri-Costa/guion-Almeida Syndrome 26 1.030
286
CHR397 Chromosome Xp11.3 Deletion Syndrome 19 1.027
287
CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 20 1.023
288
FGS004 Fg Syndrome 4 20 1.017
289
MCR066 Microcephaly-Cardiomyopathy 23 1.012
290
KZL006 Kozlowski-Krajewska Syndrome 19 1.009
291
MCD002 Mcdonough Syndrome 24 1.007
292
WDM002 Wiedemann Oldigs Oppermann Syndrome 16 1.007
293
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 35 1.006
294
CHM001 Cahmr Syndrome 17 1.005
295
MTP004 Metaphyseal Acroscyphodysplasia 23 1.002
296
OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 9 1.000
297
NNS032 Non-Syndromic X-Linked Intellectual Disability 20 0.997
298
CLR029 Clark-Baraitser Syndrome 24 0.997
299
ZTT001 Zttk Syndrome 23 0.995
300
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19 0.995
301
MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18 0.994
302
LWR016 Lowry-Maclean Syndrome 21 0.993
303
MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 20 0.993
304
5Q1001 5q14.3 Microdeletion Syndrome 20 0.986
305
RMS002 Ramos Arroyo Clark Syndrome 9 0.984
306
ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 21 0.984
307
SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 17 0.983
308
BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 17 0.983
309
OST047 Osteopenia and Sparse Hair 17 0.979
310
SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 21 0.975
311
c SYN078 Syndromic X-Linked Intellectual Disability Type 10 25 0.975
312
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57 0.974
313
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 36 0.972
314
MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 18 0.970
315
ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 16 0.969
316
CDL001 Caudal Appendage Deafness 9 0.968
317
LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 18 0.967
318
HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19 0.966
319
HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 19 0.966
320
MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 18 0.966
321
ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16 0.965
322
HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 24 0.964
323
SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17 0.961
324
c SYN056 Syndromic X-Linked Intellectual Disability 7 20 0.959
325
MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 17 0.959
326
SYN091 Syndromic X-Linked Intellectual Disability Nascimento Type 9 0.957
327
PLN009 Palant Cleft Palate Syndrome 13 0.957
328
PLT011 Pilotto Syndrome 17 0.955
329
SFR001 Sifrim-Hitz-Weiss Syndrome 22 0.954
330
HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 14 0.954
331
TNK001 Tonoki Syndrome 10 0.953
332
CHD003 Chudley Rozdilsky Syndrome 7 0.953
333
XLN023 X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club 11 0.953
334
c ALP081 Alopecia Intellectual Disability Syndrome 2 8 0.952
335
LJN002 Lujan Syndrome 12 0.950
336
UVL008 Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 18 0.950
337
DVR003 Devriendt Syndrome 13 0.945
338
CMR005 Camera-Marugo-Cohen Syndrome 12 0.945
339
ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 6 0.945
340
KTS001 Katsantoni Papadakou Lagoyanni Syndrome 5 0.944
341
DVS001 Davis Lafer Syndrome 5 0.943
342
SNG001 Singh Chhaparwal Dhanda Syndrome 4 0.942
343
SHL003 Shoulder Girdle Defect Mental Retardation Familial 15 0.938
344
LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 20 0.938
345
MNT030 Mental Retardation Syndrome, Belgian Type 16 0.935
346
HRD035 Hair Defect with Photosensitivity and Mental Retardation 16 0.931
347
SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 15 0.931
348
DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 14 0.929
349
BTT012 Battaglia-Neri Syndrome 9 0.926
350
PSS001 Passos-Bueno Syndrome 12 0.924
351
XLN162 X-Linked Intellectual Disability, Najm Type 21 0.924
352
FTZ003 Fitzsimmons Syndrome 14 0.923
353
DXT003 Dextrocardia with Unusual Facies and Microphthalmia 20 0.923
354
INT286 Intellectual Disability-Spasticity-Ectrodactyly Syndrome 14 0.921
355
ZRR001 Zerres Rietschel Majewski Syndrome 7 0.921
356
WLK002 Walker Dyson Syndrome 8 0.920
357
ZZM001 Zazam Sheriff Phillips Syndrome 6 0.920
358
EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 15 0.917
359
PFF003 Pfeiffer Mayer Syndrome 6 0.916
360
SYN070 Syngap1-Related Non-Syndromic Intellectual Disability 16 0.912
361
KRN006 Karandikar Maria Kamble Syndrome 6 0.911
362
PFF002 Pfeiffer Kapferer Syndrome 6 0.911
363
KSZ002 Kosztolanyi Syndrome 6 0.911
364
CNT052 Cantalamessa Baldini Ambrosi Syndrome 5 0.910
365
INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 11 0.909
366
PSS002 Piussan Lenaerts Mathieu Syndrome 5 0.909
367
KNR001 Koone Rizzo Elias Syndrome 5 0.909
368
HRD065 Hordnes Engebretsen Knudtson Syndrome 4 0.909
369
DKR001 Duker Weiss Siber Syndrome 4 0.909
370
FNG007 Feingold Trainer Syndrome 4 0.909
371
KZL003 Kozlowski Ouvrier Syndrome 4 0.909
372
RZC001 Ruzicka Goerz Anton Syndrome 4 0.904
373
BRT020 Baraitser Rodeck Garner Syndrome 4 0.904
374
MNT250 Mental Retardation with Spastic Paraplegia 13 0.900
375
ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 16 0.892
376
MNT306 Mental Retardation, X-Linked, Syndromic, Houge Type 10 0.890
377
PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3 0.890
378
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 17 0.888
379
CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 15 0.888
380
PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 11 0.888
381
EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 16 0.887
382
CHR580 Choroid Plexus Calcification and Mental Retardation 15 0.887
383
MNT026 Mental Retardation Short Stature Microcephaly Eye 4 0.886
384
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26 0.885
385
ANM047 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome 5 0.882
386
NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 18 0.880
387
c MNT325 Mental Retardation, Autosomal Recessive 61 18 0.878
388
SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 18 0.878
389
SPS183 Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome 6 0.876
390
MCR305 Microcephaly with Cervical Spine Fusion Anomalies 21 0.875
391
XLN128 X-Linked Intellectual Disability, Abidi Type 16 0.874
392
EPL162 Epilepsy-Telangiectasia 18 0.870
393
SPS047 Spastic Paraplegia with Precocious Puberty 14 0.870
394
AMY096 Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability 5 0.870
395
c MRN006 Marinesco-Sjogren-Like Syndrome 5 0.866
396
GRX001 Grix Blankenship Peterson Syndrome 3 0.866
397
INT089 Intellectual Deficit - Short Stature - Hypertelorism 5 0.862
398
MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7 0.860
399
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.234
400
PSY004 Psychotic Disorder 72 0.228
401
P MCR010 Microcephaly 57 0.226
402
P EPL164 Epilepsy 70 0.221
403
P ANR048 Aniridia 1 68 0.207
404
P ATS364 Autism 70 0.188
405
ANR038 Anorexia Nervosa 1 21 0.188
406
BLD137 Blood Group--Ahonen 17 0.188
407
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.168
408
P HYP265 Hypotonia 40 0.167
409
AGN016 Aging 65 0.163
410
c BRN108 Branchiootic Syndrome 1 47 0.163
411
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.163
412
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.163
413
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.163
414
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.163
415
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.163
416
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.163
417
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.163
418
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.163
419
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.163
420
CRB009 Cerebritis 41 0.163
421
P SCH015 Schizophrenia 71 0.156
422
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.155
423
ALR002 Al-Raqad Syndrome 30 0.154
424
ANX010 Anxiety 72 0.151
425
c BLD140 Blood Group, I System 37 0.150
426
DWN001 Down Syndrome 70 0.150
427
RTN023 Retinitis 52 0.149
428
P ATS366 Autism X-Linked 2 34 0.147
429
SPS057 Spasticity 41 0.144
430
NRN002 Neuronitis 43 0.144
431
P HRT032 Heart Disease 80 0.139
432
P CTR002 Cataract 60 0.136
433
HPT082 Hepatic Adenomas, Familial 52 0.135
434
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.135
435
MYL009 Myelodysplastic Syndrome 75 0.133
436
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.132
437
P ENC018 Encephalopathy 58 0.130
438
P RTT002 Rett Syndrome 82 0.127
439
c PNS012 Paine Syndrome 52 0.125
440
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.125
441
WLL001 Williams-Beuren Syndrome 63 0.124
442
P HPT021 Hepatitis 75 0.121
443
ALP046 Alport Syndrome, X-Linked 74 0.121
444
P PRD006 Prader-Willi Syndrome 66 0.120
445
P LKM002 Leukemia 75 0.117
446
HYP080 Hypogonadism 54 0.117
447
P BRC006 Brachydactyly 57 0.114
448
P ICH004 Ichthyosis 54 0.113
449
P THL005 Thalassemia 65 0.113
450
LTH045 Lutheran Suppressor, X-Linked 41 0.112
451
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.109
452
DSS008 Disease of Mental Health 51 0.109
453
P DBT009 Diabetes Mellitus 72 0.107
454
P PTS002 Ptosis 50 0.107
455
P ANG001 Angelman Syndrome 61 0.107
456
CLF001 Cleft Lip 54 0.106
457
P MSC005 Muscular Dystrophy 66 0.106
458
P NRP001 Neuropathy 63 0.105
459
CLF027 Cleft Palate, Isolated 61 0.105
460
P THY032 Thyroiditis 56 0.104
461
P TRN020 Turner Syndrome 69 0.102
462
c ALP101 Alpha-Thalassemia 60 0.100
463
P BPL003 Bipolar Disorder 61 0.100
464
CLB010 Coloboma of Macula 52 0.099
465
P PLY006 Polydactyly 57 0.098
466
DMN002 Dementia 68 0.096
467
CNN003 Conn's Syndrome 70 0.096
468
P CRN037 Craniosynostosis 68 0.096
469
P MYP004 Myopathy 69 0.095
470
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.095
471
P CRV039 Cervicitis 49 0.094
472
MDD011 Mood Disorder 64 0.093
473
BLP004 Blepharophimosis 34 0.092
474
P LYM118 Lymphoma 71 0.092
475
ACR006 Aceruloplasminemia 65 0.091
476
P ART022 Arthritis 77 0.091
477
ISC004 Ischemia 66 0.091
478
SMT004 Smith-Lemli-Opitz Syndrome 70 0.090
479
P LNG028 Long Qt Syndrome 63 0.090
480
NRL004 Neuroleptic Malignant Syndrome 44 0.090
481
MNT304 Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 21 0.090
482
P PRS038 Personality Disorder 65 0.090
483
HYP748 Hypertelorism 46 0.090
484
P ALP008 Alopecia 56 0.089
485
P ALZ034 Alzheimer Disease 95 0.089
486
GLL008 Gilles De La Tourette Syndrome 64 0.089
487
SLP005 Sleep Disorder 59 0.089
488
DWR001 Dwarfism 48 0.089
489
RST001 Restless Legs Syndrome 54 0.088
490
P HYP086 Hypothyroidism 62 0.087
491
PRP016 Paraplegia 53 0.086
492
P HYD006 Hydrocephalus 68 0.086
493
c ATS007 Autism Spectrum Disorder 68 0.086
494
P ATT013 Attention Deficit-Hyperactivity Disorder 67 0.086
495
LRN003 Learning Disability 49 0.086
496
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.085
497
MCR013 Microphthalmia 61 0.085
498
P NNN008 Noonan Syndrome 1 77 0.085
499
HYP730 Hypogonadotropic Hypogonadism 56 0.084
500
P SCL018 Scoliosis 56 0.084
501
STR039 Sturge-Weber Syndrome 59 0.084
502
P FTL001 Fetal Alcohol Syndrome 59 0.084
503
P TRM003 Tremor 54 0.084
504
P PNC044 Pancreatitis 64 0.084
505
HYP077 Hypertrichosis 49 0.083
506
P FNC043 Fanconi Anemia, Complementation Group E 52 0.083
507
DYS018 Dysostosis 48 0.083
508
P CRN018 Coronary Artery Anomaly 69 0.082
509
SPS003 Spastic Diplegia 55 0.082
510
END072 Endotheliitis 46 0.082
511
P SYN064 Syndromic X-Linked Intellectual Disability 25 0.082
512
P SBS003 Substance Abuse 57 0.082
513
CHR619 Chromosome 2q35 Duplication Syndrome 62 0.082
514
BRN106 Burns 57 0.082
515
ANR040 Aneurysm 61 0.082
516
P SLV001 Silver-Russell Syndrome 57 0.081
517
SDD001 Sudden Infant Death Syndrome 61 0.081
518
GNG013 Gingivitis 64 0.080
519
CMP010 Complex Regional Pain Syndrome 58 0.080
520
PRV006 Pervasive Developmental Disorder 56 0.080
521
P BRS047 Breast Cancer 100 0.079
522
CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 24 0.079
523
c OPT051 Opitz Gbbb Syndrome, Type I 47 0.079
524
CRB045 Cerebellar Hypoplasia 48 0.079
525
P INT068 Intestinal Disease 65 0.078
526
ECT006 Ectodermal Dysplasia 57 0.078
527
CRB037 Cerebral Palsy 70 0.078
528
P KDN018 Kidney Disease 69 0.078
529
P CRN015 Cornelia De Lange Syndrome 65 0.077
530
SNS001 Sensorineural Hearing Loss 59 0.077
531
P MJR001 Major Depressive Disorder 70 0.077
532
WBR001 Weber Syndrome 40 0.077
533
GRW007 Growth Hormone Deficiency 52 0.077
534
P THR014 Thrombocytopenia 65 0.076
535
GRW036 Growth Control, Y-Chromosome Influenced 33 0.076
536
HYP060 Hyperinsulinism 56 0.076
537
P MYC007 Myocardial Infarction 81 0.076
538
P DYS154 Dystonia 61 0.076
539
P PNM007 Pneumonia 70 0.075
540
WST001 West Syndrome 57 0.075
541
P RTN008 Retinitis Pigmentosa 81 0.075
542
ART140 Arteries, Anomalies of 51 0.075
543
P DRR001 Diarrhea 60 0.074
544
c BRD014 Bardet-Biedl Syndrome 2 58 0.074
545
CLN019 Colonic Disease 55 0.074
546
P SZR006 Seizure Disorder 55 0.074
547
THR024 Thrombosis 61 0.074
548
CLF004 Cleft Lip/palate 49 0.073
549
P HYP024 Hypoparathyroidism 55 0.073
550
CHN016 Cohen Syndrome 48 0.073
551
LPD016 Lipoid Proteinosis of Urbach and Wiethe 54 0.072
552
LNN001 Lennox-Gastaut Syndrome 59 0.072
553
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.072
554
ADP007 Adie Pupil 41 0.072
555
LYM004 Lymphoid Interstitial Pneumonia 47 0.072
556
P LPS004 Lupus Erythematosus 69 0.072
557
c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67 0.072
558
SYN005 Synostosis 50 0.072
559
CHR103 Charge Syndrome 59 0.071
560
MYC033 Myoclonus 40 0.071
561
STH001 Saethre-Chotzen Syndrome 64 0.071
562
WRN001 Werner Syndrome 70 0.071
563
P BRD002 Bardet-Biedl Syndrome 61 0.071
564
P ALG028 Alagille Syndrome 1 68 0.071
565
BLD163 Blood Group, Dombrock System 23 0.071
566
ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 34 0.070
567
c BRD012 Bardet-Biedl Syndrome 11 55 0.070
568
PRS047 Prostatitis 59 0.070
569
c BRD011 Bardet-Biedl Syndrome 10 56 0.070
570
c BRD013 Bardet-Biedl Syndrome 12 55 0.070
571
P NJM001 Nijmegen Breakage Syndrome 69 0.070
572
PTZ001 Peutz-Jeghers Syndrome 70 0.070
573
SMT008 Smith-Magenis Syndrome 54 0.069
574
P THR117 Three M Syndrome 1 52 0.069
575
P KBK002 Kabuki Syndrome 1 62 0.069
576
P STS008 Sotos Syndrome 1 56 0.069
577
c PSD047 Pseudo-Turner Syndrome 15 0.068
578
MSC165 Muscular Dystrophy, Congenital, Lmna-Related 59 0.068
579
P SHR029 Short Syndrome 54 0.068
580
P SJG008 Sjogren Syndrome 58 0.068
581
WLF002 Wolf-Hirschhorn Syndrome 54 0.068
582
PFF001 Pfeiffer Syndrome 74 0.067
583
CST001 Costello Syndrome 67 0.067
584
SYN057 Syndromic Intellectual Disability 27 0.067
585
c SYS001 Systemic Lupus Erythematosus 86 0.067
586
BLM001 Bloom Syndrome 62 0.067
587
P ESP024 Esophagitis 64 0.066
588
P CTS012 Cutis Verticis Gyrata 22 0.066
589
STR020 Strabismus 55 0.066
590
c CNT035 Central Nervous System Disease 65 0.066
591
P TRC072 Treacher Collins Syndrome 1 61 0.066
592
PRN038 Prune Belly Syndrome 55 0.066
593
P CCK001 Cockayne Syndrome 64 0.066
594
ACR008 Acrocallosal Syndrome 56 0.065
595
P PRT008 Proteus Syndrome 67 0.065
596
MBS002 Moebius Syndrome 53 0.065
597
VLC001 Velocardiofacial Syndrome 64 0.064
598
KLP010 Klippel-Trenaunay-Weber Syndrome 60 0.064
599
P KLP003 Klippel-Feil Syndrome 46 0.064
600
PRG023 Progeroid Short Stature with Pigmented Nevi 32 0.064
601
AMN006 Aminoaciduria 41 0.064
602
c ADM005 Adams-Oliver Syndrome 1 38 0.063
603
FRY002 Fryns Syndrome 43 0.063
604
P JBR020 Joubert Syndrome 1 68 0.063
605
P NRV007 Nervous System Disease 75 0.063
606
P ADN016 Adenocarcinoma 71 0.063
607
PHN003 Phenylketonuria 73 0.063
608
BRN071 Brain Injury 54 0.063
609
SKL017 Skeletal Dysplasias 48 0.063
610
MVM001 Movement Disease 40 0.063
611
LCK001 Locked-in Syndrome 47 0.062
612
P HYP040 Hypospadias 60 0.062
613
P PLY019 Polyneuropathy 58 0.062
614
P ENC004 Encephalitis 66 0.062
615
CRN264 Craniosynostosis with Fibular Aplasia 29 0.062
616
VSC007 Vascular Disease 71 0.062
617
c MNT187 Mental Retardation, X-Linked 49 24 0.062
618
GST050 Gastrointestinal System Disease 66 0.062
619
P MCP040 Mucopolysaccharidosis-Plus Syndrome 61 0.061
620
P LVR013 Liver Disease 76 0.061
621
P OST002 Osteoporosis 75 0.061
622
P HMR012 Hemorrhagic Fever 60 0.061
623
P LCT001 Lactic Acidosis 51 0.061
624
LGH007 Leigh Syndrome 68 0.061
625
P MNN013 Meningitis 71 0.061
626
P INF032 Infertility 59 0.061
627
P LYM025 Lymphedema 63 0.060
628
c WLM011 Wilms Tumor 6 44 0.060
629
c CNG124 Congenital Rubella 47 0.060
630
STT001 Status Epilepticus 60 0.060
631
RBR001 Roberts Syndrome 55 0.060
632
P GND004 Gonadal Dysgenesis 50 0.060
633
APR006 Apert Syndrome 69 0.060
634
CHD001 Chediak-Higashi Syndrome 67 0.060
635
CNS004 Constipation 57 0.059
636
c TRC091 Trichorhinophalangeal Syndrome, Type Ii 53 0.059
637
P LNG032 Lung Cancer 99 0.059
638
DRM006 Dermatitis 67 0.059
639
P CLR023 Colorectal Cancer 98 0.059
640
c LBR014 Leber Congenital Amaurosis 4 48 0.059
641
BNM029 Bone Mineral Density Quantitative Trait Locus 15 39 0.059
642
ADN018 Adenoma 63 0.059
643
P RHM011 Rheumatoid Arthritis 91 0.059
644
JHN001 Johanson-Blizzard Syndrome 48 0.059
645
BNM022 Bone Mineral Density Quantitative Trait Locus 8 32 0.059
646
VSL002 Visual Epilepsy 27 0.059
647
P INF038 Influenza 77 0.059
648
c MNT305 Mental Retardation, X-Linked 12 20 0.058
649
SPR007 Superior Mesenteric Artery Syndrome 42 0.058
650
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 43 0.058
651
P MYP006 Myopia 56 0.058
652
CND002 Conduct Disorder 54 0.058
653
CLT003 Colitis 63 0.058
654
P CTS001 Cutis Laxa 62 0.058
655
P DBT005 Diabetes Insipidus 54 0.058
656
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.057
657
ICH054 Ichthyosis, X-Linked 59 0.057
658
PLY024 Polymicrogyria 36 0.057
659
SYN046 Syndrome of Inappropriate Antidiuretic Hormone 44 0.057
660
TCD001 Tic Disorder 54 0.057
661
FRG008 Fragile X-Associated Tremor/ataxia Syndrome 41 0.057
662
P LSS002 Lissencephaly 49 0.057
663
CTY001 Cat Eye Syndrome 49 0.056
664
OBS002 Obsessive-Compulsive Disorder 68 0.056
665
PLC008 Placenta Disease 48 0.056
666
URN009 Urinary System Disease 58 0.056
667
AST005 Asthma 83 0.056
668
BDY001 Body Dysmorphic Disorder 43 0.056
669
SHW002 Shwachman-Diamond Syndrome 63 0.056
670
ATM095 Autoimmune Disease 66 0.056
671
APH002 Aphasia 58 0.055
672
FBR019 Fibromatosis 47 0.055
673
MYH012 Myhre Syndrome 41 0.055
674
HNT002 Hantavirus Pulmonary Syndrome 57 0.055
675
c WLM018 Wilms Tumor 5 49 0.055
676
P ALC004 Alcohol Abuse 63 0.055
677
MTS001 Mutism 42 0.055
678
c PRM196 Premature Ovarian Failure 1 68 0.055
679
P HRM001 Hermansky-Pudlak Syndrome 62 0.055
680
MGL003 Megalocornea 28 0.055
681
P DST002 Distal Arthrogryposis 57 0.055
682
BSL008 Basal Ganglia Disease 44 0.055
683
RYS001 Reye Syndrome 50 0.055
684
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.054
685
P RBL001 Rubella 61 0.054
686
P LPD010 Lipodystrophy 57 0.054
687
HMH004 Hemihyperplasia, Isolated 43 0.054
688
P HRS035 Hirschsprung Disease 1 64 0.054
689
P HRD009 Hereditary Wilms' Tumor 46 0.054
690
CHR008 Choroiditis 47 0.054
691
NRL016 Neural Tube Defects 79 0.054
692
P TBR001 Tuberous Sclerosis 69 0.054
693
P HMN010 Hemangioma 61 0.054
694
P PRC019 Precocious Puberty 52 0.054
695
P NTR004 Neutropenia 60 0.054
696
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.054
697
SPR004 Supravalvular Aortic Stenosis 54 0.053
698
c FRS014 Fraser Syndrome 1 51 0.053
699
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.053
700
MLK003 Melkersson-Rosenthal Syndrome 42 0.053
701
STF001 Stiff-Person Syndrome 61 0.053
702
GLC003 Glucose Intolerance 58 0.053
703
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.053
704
P ART023 Arthropathy 68 0.053
705
P KLL001 Kallmann Syndrome 63 0.053
706
AMN001 Amenorrhea 55 0.052
707
P ART021 Arteriosclerosis 62 0.052
708
P TRC086 Trichohepatoenteric Syndrome 1 54 0.052
709
P MLT020 Multiple Sclerosis 85 0.052
710
MSC157 Muscular Dystrophy, Duchenne Type 74 0.052
711
MLN008 Melanoma 72 0.052
712
ALC007 Alcohol Dependence 65 0.052
713
CHR081 Choroideremia 57 0.052
714
CRD002 Cri-Du-Chat Syndrome 47 0.052
715
ARC002 Arachnoiditis 45 0.052
716
c CNG006 Congenital Hypothyroidism 62 0.052
717
ELL001 Ellis-Van Creveld Syndrome 61 0.052
718
ISL067 Isolated Congenital Megalocornea 18 0.052
719
P PRD008 Periodontitis 67 0.052
720
P HYP083 Hypopituitarism 59 0.052
721
PSD009 Pseudohermaphroditism 42 0.052
722
P ORT004 Orthostatic Intolerance 68 0.052
723
HMF006 Hemifacial Microsomia 58 0.051
724
CYC008 Cyclic Vomiting Syndrome 50 0.051
725
c MCP050 Mucopolysaccharidosis, Type Ii 64 0.051
726
P ZLL001 Zellweger Syndrome 56 0.051
727
GLY032 Glycosylphosphatidylinositol Deficiency 36 0.051
728
ESN011 Eisenmenger Syndrome 49 0.051
729
P RNL007 Renal Tubular Acidosis 51 0.051
730
BHR002 Bohring-Opitz Syndrome 39 0.051
731
c HPT001 Hepatitis C 73 0.051
732
ATN005 Autonomic Dysfunction 51 0.051
733
P CHR345 Chronic Pain 52 0.050
734
MLR004 Malaria 86 0.050
735
GPS001 Gapo Syndrome 36 0.050
736
HYP458 Hyper Ige Syndrome 46 0.050
737
CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 37 0.050
738
ANG054 Angina Pectoris 53 0.050
739
JCB001 Jacobsen Syndrome 50 0.050
740
BRN003 Branchiooculofacial Syndrome 46 0.050
741
HMP005 Hemiplegia 54 0.050
742
c MNT218 Mental Retardation, X-Linked 99 17 0.050
743
ACR012 Aicardi Syndrome 49 0.050
744
GTL001 Gitelman Syndrome 62 0.050
745
PRR016 Pierre Robin Syndrome 57 0.050
746
HDC001 Headache 55 0.050
747
c ATM006 Autoimmune Lymphoproliferative Syndrome 71 0.049
748
PHL006 Phelan-Mcdermid Syndrome 53 0.049
749
CRZ001 Crouzon Syndrome 71 0.049
750
P HLL001 Hallermann-Streiff Syndrome 58 0.049
751
ART016 Aortic Aneurysm 70 0.049
752
LWC002 Lowe Oculocerebrorenal Syndrome 62 0.049
753
P RNG031 Ring Chromosome Y Syndrome 29 0.049
754
P MTH007 Methemoglobinemia 46 0.049
755
P MRG008 Meier-Gorlin Syndrome 1 42 0.049
756
P LYM026 Lymphoblastic Leukemia 66 0.049
757
P TTR001 Tetralogy of Fallot 70 0.049
758
CTS046 Cutis Verticis Gyrata and Mental Retardation 14 0.049
759
NNC002 Nance-Horan Syndrome 37 0.049
760
MGR028 Migraine with or Without Aura 1 55 0.049
761
CHN065 Choanal Atresia, Posterior 43 0.049
762
PNC001 Pancytopenia 50 0.049
763
CRP032 Corpus Callosum, Agenesis of 40 0.049
764
PND002 Pendred Syndrome 55 0.049
765
ARC007 Arachnoid Cysts 39 0.048
766
PLY110 Polymicrogyria, Bilateral Temporooccipital 32 0.048
767
c MNT145 Mental Retardation, Autosomal Recessive 5 24 0.048
768
ULC004 Ulcerative Colitis 80 0.048
769
P KRT007 Keratoconus 49 0.048
770
c HRD010 Hereditary Spastic Paraplegia 68 0.048
771
c CHR089 Chronic Kidney Failure 72 0.048
772
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53 0.048
773
ARS001 Aarskog-Scott Syndrome 55 0.048
774
WLK001 Walker-Warburg Syndrome 59 0.048
775
FRN006 Frontotemporal Dementia 70 0.048
776
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 22 0.048
777
P MRN003 Marinesco-Sjogren Syndrome 38 0.048
778
P UVT001 Uveitis 61 0.048
779
P PNC025 Panic Disorder 57 0.048
780
CCH002 Coach Syndrome 51 0.048
781
LND001 Landau-Kleffner Syndrome 35 0.047
782
PTR032 Peters-Plus Syndrome 60 0.047
783
P AMY004 Amyloidosis 69 0.047
784
EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48 0.047
785
ACN002 Acanthosis Nigricans 60 0.047
786
P DYS021 Dysautonomia 47 0.047
787
c MNT224 Mental Retardation, X-Linked 101 17 0.047
788
LRN002 Laron Syndrome 63 0.047
789
MRS004 Marshall-Smith Syndrome 43 0.047
790
GST092 Gastroesophageal Reflux 64 0.047
791
c ZMM002 Zimmermann-Laband Syndrome 1 38 0.047
792
P CRD224 Cardiofaciocutaneous Syndrome 1 65 0.047
793
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 40 0.047
794
RHM027 Rheumatic Disease 62 0.047
795
MSC033 Muscle Disorders 53 0.047
796
P MCK013 Meckel Syndrome, Type 1 62 0.047
797
OST015 Osteochondrodysplasia 54 0.047
798
c MNT158 Mental Retardation, Autosomal Dominant 22 25 0.047
799
MSC004 Muscle Tissue Disease 39 0.047
800
ALB002 Albinism 45 0.047
801
P CRB088 Cerebral Atrophy 38 0.047
802
P AGN002 Agnosia 61 0.046
803
EMN001 Emanuel Syndrome 37 0.046
804
P MSC003 Muscular Atrophy 55 0.046
805
TRM010 Traumatic Brain Injury 54 0.046
806
MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 17 0.046
807
VRL011 Viral Infectious Disease 64 0.046
808
VND007 Van Der Woude Syndrome 1 57 0.046
809
PCH002 Pachygyria 38 0.046
810
URT001 Urethritis 44 0.046
811
P CRB154 Cerebrocostomandibular Syndrome 35 0.046
812
DND001 Dandy-Walker Syndrome 41 0.046
813
ALX002 Alexithymia 40 0.046
814
GLC012 Galactosialidosis 53 0.046
815
YLL001 Yellow Nail Syndrome 53 0.046
816
MLT163 Multiple Pterygium Syndrome, Escobar Variant 53 0.046
817
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 31 0.046
818
ACR110 Acrodysostosis 1 with or Without Hormone Resistance 33 0.046
819
HYP064 Hypogonadotropism 38 0.046
820
P GNG025 Gingival Fibromatosis 50 0.046
821
P RTH001 Rothmund-Thomson Syndrome 57 0.045
822
GLB001 Gilbert Syndrome 55 0.045
823
CRH001 Crohn's Disease 80 0.045
824
DYS073 Dysphagia 47 0.045
825
P ATR011 Atrial Fibrillation 68 0.045
826
QDR001 Quadriplegia 54 0.045
827
c TRC078 Trichohepatoenteric Syndrome 2 34 0.045
828
MHR001 Mohr-Tranebjaerg Syndrome 39 0.045
829
PTC001 Potocki-Shaffer Syndrome 38 0.045
830
P MNT198 Mental Retardation, X-Linked 98 23 0.045
831
c MNT223 Mental Retardation, X-Linked 100 16 0.045
832
c MNT267 Mental Retardation, X-Linked 104 16 0.045
833
c MNT274 Mental Retardation, X-Linked 105 14 0.045
834
MCR302 Macrostomia, Isolated 24 0.045
835
OPH015 Ophn1 Syndrome 23 0.045
836
CHR178 Chromosomal Triplication 35 0.045
837
GYN001 Gynecomastia 47 0.045
838
APR001 Apraxia 52 0.045
839
ACH005 Achalasia 52 0.045
840
P RTN016 Retinal Degeneration 56 0.045
841
P DLT002 Dilated Cardiomyopathy 76 0.045
842
P FRN036 Frontonasal Dysplasia 1 39 0.045
843
MTH064 Methemoglobinemia, Beta-Globin Type 38 0.045
844
DYG001 Dyggve-Melchior-Clausen Disease 31 0.044
845
NPH003 Nephrocalcinosis 49 0.044
846
P BLD124 Bleeding Disorder, Platelet-Type, 11 38 0.044
847
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 56 0.044
848
P HLP001 Holoprosencephaly 67 0.044
849
c CCK008 Cockayne Syndrome a 48 0.044
850
CNG034 Congestive Heart Failure 74 0.044
851
P HYP087 Hypotrichosis 48 0.044
852
PRP019 Peripheral Nervous System Disease 53 0.044
853
c TBR025 Tuberous Sclerosis 1 63 0.044
854
MNK001 Menkes Disease 64 0.044
855
c ICH014 Ichthyosis Lamellar 1 20 0.044
856
P MRD002 Marden-Walker Syndrome 47 0.044
857
c SCK009 Seckel Syndrome 1 30 0.044
858
HYP066 Hyperglycemia 64 0.044
859
FCL009 Focal Dermal Hypoplasia 57 0.044
860
SXD001 Sex Differentiation Disease 37 0.044
861
PRT036 Peritonitis 67 0.043
862
c CCK007 Cockayne Syndrome B 52 0.043
863
INF021 Infant Gynecomastia 25 0.043
864
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 44 0.043
865
GND001 Gonadoblastoma 43 0.043
866
MNK003 Muenke Syndrome 60 0.043
867
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 33 0.043
868
c KLF004 Kleefstra Syndrome 1 34 0.043
869
c CRP023 Carpenter Syndrome 1 57 0.043
870
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28 0.043
871
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27 0.043
872
RNL120 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 23 0.043
873
PPL059 Popliteal Pterygium Syndrome, Lethal Type 37 0.043
874
OHD005 Ohdo Syndrome, Sbbys Variant 35 0.043
875
c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42 0.043
876
SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 42 0.043
877
GLD006 Goldberg-Shprintzen Syndrome 48 0.043
878
c MNT289 Mental Retardation, X-Linked 103 17 0.043
879
c MNT294 Mental Retardation, X-Linked 106 15 0.043
880
EPC005 Epicanthus 35 0.043
881
ACH022 Achalasia-Addisonianism-Alacrima Syndrome 50 0.043
882
P RSP003 Respiratory Failure 71 0.043
883
P HYP014 Hyperuricemia 54 0.043
884
P TWN003 Townes-Brocks Syndrome 57 0.043
885
P PSR002 Psoriasis 65 0.042
886
HMF010 Hemifacial Microsomia with Radial Defects 31 0.042
887
NLX004 Neu-Laxova Syndrome 1 49 0.042
888
P GLM045 Glioma 61 0.042
889
ABL002 Ablepharon-Macrostomia Syndrome 55 0.042
890
OST024 Osteoporosis-Pseudoglioma Syndrome 55 0.042
891
SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 60 0.042
892
ANT011 Antisocial Personality Disorder 51 0.042
893
MLL018 Miller-Dieker Lissencephaly Syndrome 47 0.042
894
P MGL013 Megalencephaly 54 0.042
895
STR015 Stereotypic Movement Disorder 40 0.042
896
BRN045 Brunner Syndrome 43 0.042
897
CYS013 Cystinuria 64 0.042
898
MNT283 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 19 0.042
899
c MNT204 Mental Retardation, X-Linked 23 17 0.042
900
GGN002 Gigantism 36 0.042
901
CHR078 Chorioretinitis 41 0.042
902
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 50 0.042
903
HDN002 Head Injury 48 0.042
904
P AXN002 Axenfeld-Rieger Syndrome 53 0.042
905
HRL003 Hurler Syndrome 55 0.041
906
c TYR013 Tyrosinemia, Type Ii 45 0.041
907
P ENC008 Encephalocele 48 0.041
908
P MYC026 Myoclonus Epilepsy 35 0.041
909
P KLN006 Koolen-De Vries Syndrome 38 0.041
910
P PRS040 Prostate Cancer 88 0.041
911
NVS017 Nevus, Epidermal 66 0.041
912
PTT046 Pituitary Hormone Deficiency, Combined, 2 57 0.041
913
CYS001 Cystic Fibrosis 85 0.041
914
SPS004 Spastic Quadriplegia 34 0.041
915
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49 0.041
916
BRX001 Bruxism 51 0.041
917
ISL003 Isolated Growth Hormone Deficiency 57 0.041
918
CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 50 0.041
919
c MCR263 Microphthalmia, Syndromic 1 41 0.041
920
SPL040 Split Hand 34 0.041
921
P HYP061 Hypertrophic Cardiomyopathy 65 0.041
922
P LRS001 Larsen Syndrome 47 0.041
923
P ADM011 Adams-Oliver Syndrome 52 0.041
924
c HPT073 Hepatitis C Virus 73 0.041
925
c ART061 Arthrogryposis, Distal, Type 2a 45 0.041
926
MCS002 Mucositis 61 0.041
927
P PNC035 Pancreatic Cancer 89 0.041
928
RNL078 Renal Dysplasia 49 0.040
929
SPC005 Speech Disorder 44 0.040
930
GLC006 Galactosemia 64 0.040
931
END030 End Stage Renal Failure 59 0.040
932
WHM001 Whim Syndrome 52 0.040
933
c MNT275 Mental Retardation, Autosomal Recessive 60 19 0.040
934
c MNT271 Mental Retardation, X-Linked 61 18 0.040
935
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.040
936
c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26 0.040
937
c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 26 0.040
938
P AST007 Astrocytoma 66 0.040
939
BSL036 Basal Cell Nevus Syndrome 67 0.040
940
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.040
941
BLS001 Blau Syndrome 60 0.040
942
P FCL005 Focal Segmental Glomerulosclerosis 60 0.040
943
MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 39 0.040
944
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 38 0.040
945
PRM056 Primrose Syndrome 33 0.040
946
P WRD001 Waardenburg's Syndrome 57 0.040
947
P MPL001 Maple Syrup Urine Disease 66 0.040
948
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 42 0.040
949
HRD026 Hereditary Ataxia 43 0.040
950
BCK006 Back Pain 46 0.040
951
PTT016 Patterson Pseudoleprechaunism Syndrome 29 0.040
952
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36 0.040
953
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 43 0.040
954
P OVR042 Ovarian Cancer 82 0.040
955
ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 44 0.040
956
CRD119 Cardiac Arrest 63 0.040
957
P PRV002 Periventricular Nodular Heterotopia 44 0.040
958
IRN002 Iron Metabolism Disease 45 0.040
959
VCS001 Vici Syndrome 46 0.040
960
P CRB059 Cerebellar Degeneration 40 0.040
961
PTC002 Potocki-Lupski Syndrome 40 0.039
962
P CHR071 Charcot-Marie-Tooth Disease 67 0.039
963
RTN017 Retinal Detachment 59 0.039
964
P MYL005 Myelofibrosis 75 0.039
965
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 0.039
966
MLT157 Multiple System Atrophy 1 65 0.039
967
P FML011 Familial Adenomatous Polyposis 71 0.039
968
BLL001 Baller-Gerold Syndrome 51 0.039
969
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 47 0.039
970
P HRP006 Herpes Simplex 70 0.039
971
OPP004 Oppositional Defiant Disorder 47 0.039
972
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 47 0.039
973
P ATX030 Ataxia-Telangiectasia 80 0.039
974
P VNT002 Ventricular Septal Defect 59 0.039
975
PRG123 Progeroid Syndrome, Neonatal 30 0.039
976
MTB004 Metabolic Acidosis 49 0.039
977
PLY012 Polyhydramnios 47 0.039
978
GLT018 Glut1 Deficiency Syndrome 1 37 0.039
979
MMS001 Momo Syndrome 32 0.039
980
c WRB005 Warburg Micro Syndrome 4 37 0.039
981
DNC004 Diencephalic Syndrome 37 0.039
982
HRT030 Hartsfield Syndrome 43 0.039
983
HYP264 Hypertonia 32 0.039
984
MYP139 Myopathy, Proximal, and Ophthalmoplegia 38 0.039
985
PRD002 Periodic Limb Movement Disorder 40 0.039
986
ACR099 Acrofacial Dysostosis, Catania Type 31 0.039
987
RVL002 Ruvalcaba Syndrome 37 0.039
988
LMB010 Lambert Syndrome 33 0.039
989
c ERL020 Early-Onset Schizophrenia 51 0.039
990
P LSS036 Lissencephaly, X-Linked, 1 45 0.038
991
c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 36 0.038
992
CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 25 0.038
993
c WRB004 Warburg Micro Syndrome 3 23 0.038
994
NNS031 Non-Syndromic Intellectual Disability 26 0.038
995
P ENC011 Encephalomyopathy 40 0.038
996
P OCL002 Oculocutaneous Albinism 57 0.038
997
P LPM005 Lipomatosis 50 0.038
998
c CNG208 Congenital Disorder of Glycosylation, Type Iic 42 0.038
999
PPL048 Papillorenal Syndrome 53 0.038
1000
P RDL002 Radioulnar Synostosis 46 0.038
1001
SPS007 Spastic Cerebral Palsy 46 0.038
1002
KHL003 Kohlschutter-Tonz Syndrome 37 0.038
1003
END081 Endosteal Hyperostosis, Autosomal Dominant 55 0.038
1004
c INF065 Infantile Hypotonia 20 0.038
1005
P XRD010 Xeroderma Pigmentosum, Variant Type 62 0.038
1006
HYP141 Hyperphenylalaninemia 43 0.038
1007
CNG065 Congenital Contractures 27 0.037
1008
c ALC033 Alcohol Use Disorder 40 0.037
1009
SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 37 0.037
1010
LBN003 Lubinsky Syndrome 16 0.037
1011
EPD016 Epidermolysis Bullosa 57 0.037
1012
c ATS307 Autosomal Recessive Cerebellar Ataxia 27 0.037
1013
HYP005 Hypokalemia 53 0.037
1014
FTL009 Fetal Akinesia Deformation Sequence 54 0.037
1015
c OPT050 Opitz Gbbb Syndrome, Type Ii 38 0.037
1016
c OTP007 Otopalatodigital Syndrome, Type Ii 38 0.037
1017
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25 0.037
1018
c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24 0.037
1019
c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23 0.037
1020
ACR037 Acromegaloid Facial Appearance Syndrome 26 0.037
1021
SCH068 Schwartz-Jampel Syndrome, Type 1 54 0.037
1022
PYL017 Pyle Disease 49 0.037
1023
P ZMM001 Zimmermann-Laband Syndrome 28 0.037
1024
P LTR001 Lateral Sclerosis 58 0.037
1025
PRN009 Paranoid Schizophrenia 49 0.037
1026
c MNT167 Mental Retardation, Autosomal Recessive 16 18 0.037
1027
c MNT180 Mental Retardation, Autosomal Recessive 33 18 0.037
1028
c MNT160 Mental Retardation, Autosomal Recessive 31 16 0.037
1029
PTR009 Pterygium Colli Mental Retardation Digital Anomalies 5 0.037
1030
RDS004 Rud Syndrome 10 0.037
1031
c HPT003 Hepatitis a 63 0.037
1032
PTT009 Pituitary Gland Disease 56 0.037
1033
c LPR012 Leopard Syndrome 1 33 0.037
1034
FRG010 Fragile X Tremor/ataxia Syndrome 34 0.037
1035
P CHN044 Chondrodysplasia Punctata Syndrome 43 0.037
1036
c OTP006 Otopalatodigital Syndrome, Type I 38 0.037
1037
SPN186 Spinal Cord Injury 67 0.037
1038
TMT001 Timothy Syndrome 52 0.037
1039
ACR017 Acrofacial Dysostosis 24 0.037
1040
CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 36 0.037
1041
PLM070 Pulmonic Stenosis 61 0.037
1042
TRD006 Tardive Dyskinesia 59 0.037
1043
SRP005 Serpin Peptidase Inhibitor, Clade a, Member 2, Pseudogene 16 0.037
1044
c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24 0.037
1045
KDS001 Kid Syndrome 44 0.036
1046
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.036
1047
P HYP726 Hypercalcemia, Infantile, 1 57 0.036
1048
HSH003 Hashimoto Thyroiditis 67 0.036
1049
WRS002 Warsaw Breakage Syndrome 44 0.036
1050
P ATR010 Atrial Heart Septal Defect 45 0.036
1051
P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 43 0.036
1052
c WRD033 Waardenburg Syndrome, Type 2e 52 0.036
1053
LRN001 Laurence-Moon Syndrome 46 0.036
1054
P CNG411 Congenital Disorder of Glycosylation, Type in 55 0.036
1055
c CRN139 Cornelia De Lange Syndrome 1 46 0.036
1056
ECT005 Ectropion 47 0.036
1057
c BRD032 Bardet-Biedl Syndrome 14 40 0.036
1058
c BRD015 Bardet-Biedl Syndrome 3 40 0.036
1059
CLC006 Calcinosis 51 0.036
1060
c HYP595 Hypertension, Essential 78 0.036
1061
P FNC027 Fanconi Anemia, Complementation Group a 78 0.036
1062
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 26 0.036
1063
c ORF034 Orofaciodigital Syndrome Vi 43 0.036
1064
SPC003 Specific Developmental Disorder 29 0.036
1065
CRB150 Cerebral Creatine Deficiency Syndrome 2 45 0.036
1066
GLY014 Glycerol Kinase Deficiency 47 0.036
1067
c MCR256 Microphthalmia, Syndromic 9 48 0.036
1068
GST033 Gestational Diabetes 62 0.036
1069
BDY007 Body Mass Index Quantitative Trait Locus 1 23 0.036
1070
P FBR031 Febrile Seizures 52 0.036
1071
SPL039 Split Foot 30 0.036
1072
P PRG013 Paraganglioma 57 0.036
1073
c BRD019 Bardet-Biedl Syndrome 7 31 0.036
1074