Search results for corpus callosum

1032 hits were found for corpus callosum

# Family MCID Name MIFTS Score
1
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 46 10.238
2
CRP032 Corpus Callosum, Agenesis of 40 5.877
3
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 41 5.588
4
VCS001 Vici Syndrome 46 5.475
5
CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 29 5.255
6
CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 37 5.177
7
CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23 5.141
8
CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 19 4.467
9
CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 31 4.459
10
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 32 4.334
11
ACR012 Aicardi Syndrome 49 4.150
12
TMT003 Temtamy Syndrome 29 4.136
13
MSS001 Masa Syndrome 46 4.121
14
SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 21 4.097
15
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 42 4.060
16
c SPS092 Spastic Paraplegia 11 26 4.027
17
ACR008 Acrocallosal Syndrome 56 3.747
18
DNN002 Donnai-Barrow Syndrome 40 3.727
19
CRP003 Corpus Callosum Lipoma 17 3.696
20
CRP011 Corpus Callosum Agenesis Double Urinary Collecting 16 3.661
21
XLN220 X-Linked Complicated Corpus Callosum Agenesis 13 3.629
22
WHT018 White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome 18 3.240
23
CHD004 Chudley-Mccullough Syndrome 30 3.215
24
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 20 3.215
25
MCR340 Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate 17 3.206
26
XLN149 X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis 11 3.206
27
SPS189 Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome 6 3.206
28
ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 23 3.196
29
CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 26 3.176
30
OPT054 Opitz-Kaveggia Syndrome 45 3.165
31
XLN107 X-Linked Lissencephaly with Abnormal Genitalia 29 3.140
32
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 43 2.663
33
P LSS036 Lissencephaly, X-Linked, 1 45 2.625
34
CRR017 Curry-Jones Syndrome 33 2.625
35
AGN017 Agenesis of the Corpus Callosum and Congenital Lymphedema 16 2.614
36
P MRR011 Mirror Movements 1 35 2.602
37
CMB013 Combined Oxidative Phosphorylation Deficiency 2 21 2.589
38
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 38 2.574
39
SKD001 Sakoda Complex 9 2.538
40
SHP003 Shapiro Syndrome 26 1.917
41
ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19 1.895
42
STR102 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features 14 1.895
43
c LSS037 Lissencephaly, X-Linked, 2 31 1.883
44
c MNT213 Mental Retardation, Autosomal Recessive 40 22 1.870
45
CRP024 Corpus Callosum Oligodendroglioma 5 1.870
46
c MCR217 Microphthalmia, Syndromic 11 22 1.856
47
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 9 1.856
48
CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 6 1.856
49
BND006 Bone Dysplasia Corpus Callosum Agenesis 3 1.856
50
HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 2 1.856
51
FCL018 Facial Clefting Corpus Callosum Agenesis 2 1.856
52
PLY047 Polysyndactyly Trigonocephaly Agenesis of Corpus Callosum 2 1.856
53
CRP012 Corpus Callosum Agenesis of Blepharophimosis Robin Type 2 1.848
54
CRP013 Corpus Callosum Dysgenesis Cleft Spasm 2 1.848
55
CRP014 Corpus Callosum Dysgenesis Hypopituitarism 2 1.848
56
CRP015 Corpus Callosum Dysgenesis X-Linked Recessive 2 1.848
57
c MNT245 Mental Retardation, Autosomal Dominant 36 19 1.840
58
MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 7 1.840
59
PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 6 1.840
60
MCR358 Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom 2 1.840
61
THR039 Thrombocytopenia Robin Sequence 12 1.820
62
SLB001 Saal Bulas Syndrome 7 1.820
63
BNR003 Ben Ari Shuper Mimouni Syndrome 5 1.820
64
PLR009 Pol Iii-Related Leukodystrophies 40 1.795
65
CLL019 Calloso-Genital Dysplasia 6 1.795
66
DKR001 Duker Weiss Siber Syndrome 4 1.795
67
KZL003 Kozlowski Ouvrier Syndrome 4 1.795
68
SPS057 Spasticity 41 0.268
69
PRP016 Paraplegia 53 0.224
70
c HRD010 Hereditary Spastic Paraplegia 68 0.205
71
P MCR010 Microcephaly 57 0.175
72
c LPM012 Lipomatosis, Multiple 64 0.144
73
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.143
74
P EPL164 Epilepsy 70 0.135
75
P ANR048 Aniridia 1 68 0.123
76
P LSS002 Lissencephaly 49 0.122
77
PLY024 Polymicrogyria 36 0.114
78
MRC001 Marchiafava Bignami Disease 23 0.114
79
ANR038 Anorexia Nervosa 1 21 0.111
80
BLD137 Blood Group--Ahonen 17 0.111
81
CRB009 Cerebritis 41 0.110
82
PLY110 Polymicrogyria, Bilateral Temporooccipital 32 0.106
83
P HYD006 Hydrocephalus 68 0.103
84
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.103
85
NRN002 Neuronitis 43 0.099
86
APR006 Apert Syndrome 69 0.096
87
CLF001 Cleft Lip 54 0.096
88
P MWT001 Mowat-Wilson Syndrome 47 0.096
89
P TRC086 Trichohepatoenteric Syndrome 1 54 0.096
90
P NRP001 Neuropathy 63 0.093
91
AGN016 Aging 65 0.092
92
P HLP001 Holoprosencephaly 67 0.091
93
P SCH018 Schizencephaly 53 0.091
94
P FRN036 Frontonasal Dysplasia 1 39 0.091
95
CLP002 Colpocephaly 17 0.091
96
END072 Endotheliitis 46 0.089
97
P ENC008 Encephalocele 48 0.089
98
P MLT020 Multiple Sclerosis 85 0.086
99
P CFF008 Coffin-Siris Syndrome 1 59 0.086
100
CLB010 Coloboma of Macula 52 0.086
101
c WRB002 Warburg Micro Syndrome 1 42 0.086
102
DND001 Dandy-Walker Syndrome 41 0.086
103
c ADM005 Adams-Oliver Syndrome 1 38 0.086
104
DSM002 Desmosterolosis 35 0.086
105
SPS019 Spastic Paraparesis 33 0.086
106
OCL034 Oculocerebrocutaneous Syndrome 33 0.086
107
P SCH015 Schizophrenia 71 0.083
108
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.083
109
ALR002 Al-Raqad Syndrome 30 0.083
110
LNN001 Lennox-Gastaut Syndrome 59 0.083
111
SPT006 Septooptic Dysplasia 54 0.081
112
P HYP265 Hypotonia 40 0.081
113
c HYD060 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 38 0.081
114
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 36 0.081
115
P ENC018 Encephalopathy 58 0.080
116
c BLD140 Blood Group, I System 37 0.079
117
ADR054 Adrenocortical Carcinoma, Hereditary 63 0.077
118
ARC002 Arachnoiditis 45 0.077
119
ARC007 Arachnoid Cysts 39 0.077
120
NRL016 Neural Tube Defects 79 0.075
121
PTR032 Peters-Plus Syndrome 60 0.075
122
HMF006 Hemifacial Microsomia 58 0.075
123
HPT082 Hepatic Adenomas, Familial 52 0.075
124
CRB045 Cerebellar Hypoplasia 48 0.075
125
ENC010 Encephalocraniocutaneous Lipomatosis 48 0.075
126
HYP748 Hypertelorism 46 0.075
127
BHR002 Bohring-Opitz Syndrome 39 0.075
128
c MCR241 Microphthalmia, Syndromic 3 39 0.075
129
c BRT038 Baraitser-Winter Syndrome 1 37 0.075
130
BLP004 Blepharophimosis 34 0.075
131
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 31 0.075
132
c MNT158 Mental Retardation, Autosomal Dominant 22 25 0.075
133
CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 24 0.075
134
LSS039 Lissencephaly 6 with Microcephaly 20 0.075
135
P MNN013 Meningitis 71 0.068
136
SMT004 Smith-Lemli-Opitz Syndrome 70 0.068
137
MCR013 Microphthalmia 61 0.068
138
RLP002 Relapsing-Remitting Multiple Sclerosis 59 0.068
139
P PLY006 Polydactyly 57 0.068
140
P MGL013 Megalencephaly 54 0.068
141
GRG001 Greig Cephalopolysyndactyly Syndrome 53 0.068
142
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 51 0.068
143
P MRD002 Marden-Walker Syndrome 47 0.068
144
CHR222 Chromosome 1p36 Deletion Syndrome 46 0.068
145
P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 43 0.068
146
FRY002 Fryns Syndrome 43 0.068
147
GNT031 Genitopatellar Syndrome 43 0.068
148
SKN023 Skin Tag 41 0.068
149
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 40 0.068
150
PCH002 Pachygyria 38 0.068
151
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 38 0.068
152
ACR041 Acromelic Frontonasal Dysostosis 38 0.068
153
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37 0.068
154
CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 35 0.068
155
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 35 0.068
156
c SPS114 Spastic Paraplegia 45, Autosomal Recessive 31 0.068
157
ALG027 Al-Gazali-Bakalinova Syndrome 31 0.068
158
CRN266 Craniofacial Dyssynostosis with Short Stature 24 0.068
159
BRN134 Brain Malformations with or Without Urinary Tract Defects 24 0.068
160
c LSS009 Lissencephaly 3 22 0.068
161
GLB002 Glioblastoma 74 0.064
162
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.061
163
CRB037 Cerebral Palsy 70 0.061
164
P ATS364 Autism 70 0.061
165
P JBR020 Joubert Syndrome 1 68 0.061
166
OBS002 Obsessive-Compulsive Disorder 68 0.061
167
P MCK013 Meckel Syndrome, Type 1 62 0.061
168
P CTR002 Cataract 60 0.061
169
CFF002 Coffin-Lowry Syndrome 58 0.061
170
P LTR001 Lateral Sclerosis 58 0.061
171
FCL009 Focal Dermal Hypoplasia 57 0.061
172
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57 0.061
173
P STS008 Sotos Syndrome 1 56 0.061
174
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55 0.061
175
WLF002 Wolf-Hirschhorn Syndrome 54 0.061
176
P HYD033 Hydrolethalus Syndrome 1 54 0.061
177
QDR001 Quadriplegia 54 0.061
178
P GLY010 Glycine Encephalopathy 52 0.061
179
c ORF037 Orofaciodigital Syndrome I 51 0.061
180
AGN012 Agnathia-Otocephaly Complex 51 0.061
181
NRP060 Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 50 0.061
182
NLX004 Neu-Laxova Syndrome 1 49 0.061
183
YNS002 Yunis-Varon Syndrome 48 0.061
184
GLD006 Goldberg-Shprintzen Syndrome 48 0.061
185
MLL018 Miller-Dieker Lissencephaly Syndrome 47 0.061
186
CRN005 Craniofrontonasal Syndrome 46 0.061
187
ALB002 Albinism 45 0.061
188
HRT030 Hartsfield Syndrome 43 0.061
189
CHR492 Chromosome 13q14 Deletion Syndrome 43 0.061
190
CHN065 Choanal Atresia, Posterior 43 0.061
191
c HLP023 Holoprosencephaly 1 43 0.061
192
LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 42 0.061
193
CHR078 Chorioretinitis 41 0.061
194
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 40 0.061
195
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 38 0.061
196
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38 0.061
197
c WRB005 Warburg Micro Syndrome 4 37 0.061
198
EMN001 Emanuel Syndrome 37 0.061
199
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35 0.061
200
FMR004 Fumarase Deficiency 34 0.061
201
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.061
202
SPS004 Spastic Quadriplegia 34 0.061
203
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 33 0.061
204
ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 32 0.061
205
PSD046 Pseudotrisomy 13 Syndrome 30 0.061
206
CMB026 Combined Oxidative Phosphorylation Deficiency 12 29 0.061
207
MCR257 Microcephaly, Amish Type 28 0.061
208
c PNT035 Pontocerebellar Hypoplasia, Type 1c 27 0.061
209
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.061
210
c PNT032 Pontocerebellar Hypoplasia, Type 9 27 0.061
211
c CNG201 Congenital Disorder of Glycosylation, Type Iij 27 0.061
212
c MNT296 Mental Retardation, X-Linked, Syndromic 34 25 0.061
213
c FRN033 Frontonasal Dysplasia 2 25 0.061
214
c PNT030 Pontocerebellar Hypoplasia, Type 8 25 0.061
215
c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25 0.061
216
HRT037 Heart and Brain Malformation Syndrome 25 0.061
217
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 25 0.061
218
c FRN037 Frontal Encephalocele 24 0.061
219
c WRB004 Warburg Micro Syndrome 3 23 0.061
220
MCR310 Microgastria-Limb Reduction Defects Association 23 0.061
221
HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 22 0.061
222
CHR483 Chromosome 3q13.31 Deletion Syndrome 22 0.061
223
CRN104 Craniotelencephalic Dysplasia 22 0.061
224
c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22 0.061
225
c LSS035 Lissencephaly 8 21 0.061
226
XQ1001 Xq12-Q13.3 Duplication Syndrome 20 0.061
227
c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20 0.061
228
GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 20 0.061
229
LSS034 Lissencephaly Type Iii and Bone Dysplasia 18 0.061
230
ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 18 0.061
231
HYP183 Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 15 0.061
232
SRC014 Sarcoma 68 0.058
233
P HRT032 Heart Disease 80 0.057
234
CHL078 Childhood-Onset Schizophrenia 35 0.057
235
HYP266 Hypoxia 61 0.054
236
P NRV007 Nervous System Disease 75 0.053
237
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.053
238
P NRM001 Neuromyelitis Optica 67 0.053
239
P THR014 Thrombocytopenia 65 0.053
240
DBF001 D-Bifunctional Protein Deficiency 57 0.053
241
ECT006 Ectodermal Dysplasia 57 0.053
242
P MGR003 Migraine with Aura 56 0.053
243
c EPL209 Epilepsy, Idiopathic Generalized 10 55 0.053
244
MGR028 Migraine with or Without Aura 1 55 0.053
245
MYL020 Myelomeningocele 54 0.053
246
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53 0.053
247
P PTT014 Pitt-Hopkins Syndrome 52 0.053
248
P LFT003 Left Ventricular Noncompaction 52 0.053
249
P FNC043 Fanconi Anemia, Complementation Group E 52 0.053
250
BLL001 Baller-Gerold Syndrome 51 0.053
251
CRB151 Cerebral Creatine Deficiency Syndrome 1 50 0.053
252
c SPS215 Spastic Paraplegia 3, Autosomal Dominant 50 0.053
253
CLF004 Cleft Lip/palate 49 0.053
254
HYP231 Hypothalamic Hamartomas 49 0.053
255
CHN016 Cohen Syndrome 48 0.053
256
c BRN108 Branchiootic Syndrome 1 47 0.053
257
LCK001 Locked-in Syndrome 47 0.053
258
c OPT051 Opitz Gbbb Syndrome, Type I 47 0.053
259
c LSS005 Lissencephaly 1 46 0.053
260
NRN016 Neuronal Migration Disorders 42 0.053
261
P BND018 Band Heterotopia 42 0.053
262
P OPT070 Optic Nerve Hypoplasia, Bilateral 42 0.053
263
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42 0.053
264
c SPS095 Spastic Paraplegia 47, Autosomal Recessive 41 0.053
265
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 40 0.053
266
PTC002 Potocki-Lupski Syndrome 40 0.053
267
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 40 0.053
268
AYM001 Ayme-Gripp Syndrome 40 0.053
269
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.053
270
P KLN006 Koolen-De Vries Syndrome 38 0.053
271
CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 38 0.053
272
BHR001 Behr Syndrome 36 0.053
273
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 36 0.053
274
LBR025 Lobar Holoprosencephaly 36 0.053
275
CHR178 Chromosomal Triplication 35 0.053
276
HRS011 Horseshoe Kidney 35 0.053
277
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 35 0.053
278
c APL023 Aplasia Cutis Congenita, Nonsyndromic 34 0.053
279
c WRB003 Warburg Micro Syndrome 2 33 0.053
280
c RNG018 Ring Chromosome 22 32 0.053
281
c PNT037 Pontocerebellar Hypoplasia, Type 3 32 0.053
282
c CNG416 Congenital Disorder of Glycosylation, Type Iy 32 0.053
283
MST006 Mast Syndrome 32 0.053
284
P MCR251 Microphthalmia, Syndromic 6 30 0.053
285
MCR025 Microhydranencephaly 30 0.053
286
WTT002 Witteveen-Kolk Syndrome 29 0.053
287
P TRS029 Trisomy 1q 28 0.053
288
c PLY149 Polydactyly, Preaxial Iv 27 0.053
289
c MCR239 Microcephaly 5, Primary, Autosomal Recessive 27 0.053
290
EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 27 0.053
291
KPR002 Kapur-Toriello Syndrome 26 0.053
292
HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26 0.053
293
EVN003 Even-Plus Syndrome 25 0.053
294
FBR094 Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement 25 0.053
295
CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 24 0.053
296
CHR487 Chromosome 8q21.11 Deletion Syndrome 23 0.053
297
ZTT001 Zttk Syndrome 23 0.053
298
NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 22 0.053
299
c ORF045 Orofaciodigital Syndrome Xv 22 0.053
300
c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22 0.053
301
MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 22 0.053
302
c LKD023 Leukodystrophy, Hypomyelinating, 12 22 0.053
303
c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22 0.053
304
c MNT248 Mental Retardation, X-Linked 102 22 0.053
305
c CFF006 Coffin-Siris Syndrome 5 21 0.053
306
c CRN256 Craniosynostosis 6 21 0.053
307
CNG501 Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 21 0.053
308
CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 21 0.053
309
c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 21 0.053
310
SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 21 0.053
311
CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 20 0.053
312
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 20 0.053
313
CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 20 0.053
314
XGB001 Xia-Gibbs Syndrome 19 0.053
315
FCL064 Facial Dysmorphism with Multiple Malformations 19 0.053
316
NRD029 Neurodevelopmental Disorder with Involuntary Movements 18 0.053
317
NRD026 Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies 16 0.053
318
STR095 Structural Heart Defects and Renal Anomalies Syndrome 16 0.053
319
FXG001 Foxg1 Syndrome 15 0.053
320
XQ2003 Xq25 Duplication Syndrome 14 0.053
321
P GLM040 Glioma Susceptibility 1 51 0.051
322
P TRT010 Teratoma 53 0.051
323
P BRS047 Breast Cancer 100 0.048
324
INS024 Insulin-Like Growth Factor I 83 0.048
325
P LYM118 Lymphoma 71 0.048
326
P THY032 Thyroiditis 56 0.048
327
ALP046 Alport Syndrome, X-Linked 74 0.048
328
DMN002 Dementia 68 0.048
329
WLL001 Williams-Beuren Syndrome 63 0.048
330
c TBR025 Tuberous Sclerosis 1 63 0.048
331
STT001 Status Epilepticus 60 0.048
332
P PRV002 Periventricular Nodular Heterotopia 44 0.048
333
WLL004 Wallerian Degeneration 40 0.048
334
PRL023 Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 28 0.048
335
ADN018 Adenoma 63 0.044
336
P HYP040 Hypospadias 60 0.044
337
P CRV039 Cervicitis 49 0.044
338
MTR010 Mature Teratoma 46 0.044
339
P CLR023 Colorectal Cancer 98 0.043
340
P INF038 Influenza 77 0.043
341
P SPR120 Supranuclear Palsy, Progressive, 1 70 0.043
342
ACR007 Acromegaly 70 0.043
343
P OST001 Osteopetrosis 70 0.043
344
P MYP004 Myopathy 69 0.043
345
c ATS007 Autism Spectrum Disorder 68 0.043
346
P MCL013 Mucolipidosis Iv 67 0.043
347
P PRS038 Personality Disorder 65 0.043
348
P CRD224 Cardiofaciocutaneous Syndrome 1 65 0.043
349
GST092 Gastroesophageal Reflux 64 0.043
350
c DPH024 Diaphragmatic Hernia, Congenital 63 0.043
351
MSM014 Mismatch Repair Cancer Syndrome 63 0.043
352
P LYM025 Lymphedema 63 0.043
353
P HYP086 Hypothyroidism 62 0.043
354
SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 60 0.043
355
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 60 0.043
356
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 60 0.043
357
PLL001 Pallister-Hall Syndrome 59 0.043
358
WLK001 Walker-Warburg Syndrome 59 0.043
359
P FTL001 Fetal Alcohol Syndrome 59 0.043
360
P OLG002 Oligodendroglioma 59 0.043
361
ALX003 Alexander Disease 58 0.043
362
P TWN003 Townes-Brocks Syndrome 57 0.043
363
CYT008 Cytomegalovirus Infection 57 0.043
364
P LPR002 Leopard Syndrome 56 0.043
365
P SCL018 Scoliosis 56 0.043
366
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.043
367
DXT001 Dextrocardia 55 0.043
368
STR020 Strabismus 55 0.043
369
SPS003 Spastic Diplegia 55 0.043
370
BRN071 Brain Injury 54 0.043
371
SMT008 Smith-Magenis Syndrome 54 0.043
372
CND002 Conduct Disorder 54 0.043
373
P TRM003 Tremor 54 0.043
374
NRG002 Neurogenic Bladder 53 0.043
375
PHL006 Phelan-Mcdermid Syndrome 53 0.043
376
c ORF040 Orofaciodigital Syndrome Viii 53 0.043
377
MBS002 Moebius Syndrome 53 0.043
378
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53 0.043
379
ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 52 0.043
380
CCH002 Coach Syndrome 51 0.043
381
EXP004 Exophthalmos 50 0.043
382
P PTS002 Ptosis 50 0.043
383
P APL006 Aplasia Cutis Congenita 50 0.043
384
c RBN021 Rubinstein-Taybi Syndrome 1 50 0.043
385
JCB001 Jacobsen Syndrome 50 0.043
386
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 50 0.043
387
CTY001 Cat Eye Syndrome 49 0.043
388
OST022 Osteopathia Striata with Cranial Sclerosis 49 0.043
389
STR081 Stormorken Syndrome 49 0.043
390
HYP077 Hypertrichosis 49 0.043
391
MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 48 0.043
392
HDN002 Head Injury 48 0.043
393
DWR001 Dwarfism 48 0.043
394
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 48 0.043
395
RGH009 Right Atrial Isomerism 48 0.043
396
P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 47 0.043
397
P MSC022 Mosaic Variegated Aneuploidy Syndrome 47 0.043
398
PYL006 Pyloric Stenosis 47 0.043
399
P OCL001 Ocular Albinism 46 0.043
400
SCR020 Sacral Defect with Anterior Meningocele 46 0.043
401
c PSD106 Pseudo-Torch Syndrome 1 46 0.043
402
SPS007 Spastic Cerebral Palsy 46 0.043
403
P HYP009 Hypertrophic Pyloric Stenosis 45 0.043
404
P CHR342 Chiari Malformation 45 0.043
405
MNN032 Meningococcal Meningitis 45 0.043
406
NRL018 Neural Tube Defects, Folate-Sensitive 44 0.043
407
c LKD015 Leukodystrophy, Hypomyelinating, 3 44 0.043
408
PNN005 Panencephalitis, Subacute Sclerosing 44 0.043
409
PRL032 Perlman Syndrome 44 0.043
410
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 44 0.043
411
DBW001 Dubowitz Syndrome 44 0.043
412
KRT008 Keratopathy 44 0.043
413
c ACR116 Aicardi-Goutieres Syndrome 1 43 0.043
414
LRY029 Laryngomalacia 43 0.043
415
TRP014 Triploidy 43 0.043
416
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.043
417
MRS004 Marshall-Smith Syndrome 43 0.043
418
c CHR579 Chiari Malformation Type Ii 42 0.043
419
CRT015 Carotid Artery Occlusion 42 0.043
420
CRN025 Corneal Dystrophy 42 0.043
421
JBR006 Joubert Syndrome with Oculorenal Anomalies 42 0.043
422
P CRB101 Cerebrooculofacioskeletal Syndrome 1 42 0.043
423
DLS001 Delusional Disorder 41 0.043
424
P ORF002 Orofacial Cleft 41 0.043
425
LTH045 Lutheran Suppressor, X-Linked 41 0.043
426
c MCR263 Microphthalmia, Syndromic 1 41 0.043
427
c PNT034 Pontocerebellar Hypoplasia, Type 2e 41 0.043
428
TRN012 Transient Global Amnesia 40 0.043
429
c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40 0.043
430
PLY082 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 40 0.043
431
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.043
432
c MCR261 Microphthalmia, Syndromic 2 40 0.043
433
P CNG024 Congenital Nystagmus 40 0.043
434
ATS010 Autosomal Recessive Disease 40 0.043
435
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.043
436
c HLP024 Holoprosencephaly 2 40 0.043
437
CNG069 Congenital Cytomegalovirus 40 0.043
438
P DYS005 Dyslexia 39 0.043
439
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 39 0.043
440
PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39 0.043
441
DBR002 De Barsy Syndrome 38 0.043
442
VNM003 Van Maldergem Syndrome 1 38 0.043
443
c OPT050 Opitz Gbbb Syndrome, Type Ii 38 0.043
444
P LSS024 Lissencephaly with Cerebellar Hypoplasia 37 0.043
445
c CNG439 Congenital Lymphedema 37 0.043
446
c RNG008 Ring Chromosome 13 37 0.043
447
c GLL038 Galloway-Mowat Syndrome 1 37 0.043
448
ENT001 Enterocele 36 0.043
449
PHC004 Phace Syndrome 36 0.043
450
INF129 Infantile Cerebellar-Retinal Degeneration 36 0.043
451
KR001 Koro 36 0.043
452
SLT005 Solitary Median Maxillary Central Incisor 36 0.043
453
CHR518 Chromosome 9p Deletion Syndrome 36 0.043
454
JBR005 Joubert Syndrome with Ocular Anomalies 36 0.043
455
P PHS005 Peho Syndrome 36 0.043
456
CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 36 0.043
457
SSC001 Susac Syndrome 36 0.043
458
c SPN097 Spinocerebellar Ataxia 23 36 0.043
459
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 35 0.043
460
c PNT049 Pontocerebellar Hypoplasia, Type 2d 35 0.043
461
HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 35 0.043
462
LRN006 Laurin-Sandrow Syndrome 35 0.043
463
CHR387 Chromosome Xp21 Deletion Syndrome 35 0.043
464
CHR390 Chromosome 14q11-Q22 Deletion Syndrome 34 0.043
465
c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34 0.043
466
FMR018 Femoral-Facial Syndrome 34 0.043
467
c KLF004 Kleefstra Syndrome 1 34 0.043
468
c SPS071 Spastic Paraplegia 48, Autosomal Recessive 34 0.043
469
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 34 0.043
470
P ATS366 Autism X-Linked 2 34 0.043
471
c ACR088 Aicardi-Goutieres Syndrome 3 33 0.043
472
END059 Endocrine-Cerebroosteodysplasia 33 0.043
473
PRM056 Primrose Syndrome 33 0.043
474
MSC020 Mosaic Trisomy 8 33 0.043
475
c SPS101 Spastic Paraplegia 56, Autosomal Recessive 33 0.043
476
SRN002 Sirenomelia 33 0.043
477
P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 33 0.043
478
GLY094 Glycine Encephalopathy with Normal Serum Glycine 33 0.043
479
LJN003 Lujan-Fryns Syndrome 33 0.043
480
49X002 49,xxxxy Syndrome 33 0.043
481
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33 0.043
482
CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32 0.043
483
c TRC101 Trichothiodystrophy 4, Nonphotosensitive 32 0.043
484
CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 32 0.043
485
CDS002 Codas Syndrome 32 0.043
486
c SPS096 Spastic Paraplegia 44, Autosomal Recessive 32 0.043
487
HLP004 Holoprosencephaly, Recurrent Infections, and Monocytosis 32 0.043
488
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32 0.043
489
MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 32 0.043
490
HMF010 Hemifacial Microsomia with Radial Defects 31 0.043
491
TRP006 Tarp Syndrome 31 0.043
492
ASP024 Asparagine Synthetase Deficiency 31 0.043
493
c PNT033 Pontocerebellar Hypoplasia, Type 10 31 0.043
494
GBT001 Gaba-Transaminase Deficiency 31 0.043
495
RFM001 Roifman Syndrome 31 0.043
496
c LSS010 Lissencephaly 4 31 0.043
497
STR046 Stargardt Macular Degeneration 30 0.043
498
P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 30 0.043
499
c HLP027 Holoprosencephaly 7 30 0.043
500
OCL039 Oculoectodermal Syndrome 30 0.043
501
JBR007 Joubert Syndrome with Renal Anomalies 30 0.043
502
c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30 0.043
503
PRG123 Progeroid Syndrome, Neonatal 30 0.043
504
MHM001 Mehmo Syndrome 30 0.043
505
CMB012 Combined Oxidative Phosphorylation Deficiency 1 29 0.043
506
CRN288 Corneal Dystrophy, Band-Shaped 29 0.043
507
PNT009 Pontine Tegmental Cap Dysplasia 29 0.043
508
CRN264 Craniosynostosis with Fibular Aplasia 29 0.043
509
MCR183 Microcephaly-Capillary Malformation Syndrome 29 0.043
510
MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 29 0.043
511
MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 29 0.043
512
FRN022 Frontofacionasal Dysplasia 29 0.043
513
c RNG022 Ring Chromosome 6 29 0.043
514
c CNG190 Congenital Disorder of Glycosylation, Type Iib 28 0.043
515
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 0.043
516
MRN009 Morning Glory Syndrome 28 0.043
517
SCH037 Schinzel-Giedion Midface Retraction Syndrome 28 0.043
518
P MNT319 Mental Retardation, Autosomal Dominant 20 28 0.043
519
CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 28 0.043
520
c CNG389 Congenital Disorder of Glycosylation, Type Iim 28 0.043
521
BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 28 0.043
522
c JBR004 Joubert Syndrome 2 28 0.043
523
CHR265 Chromosome 8p Duplication 27 0.043
524
LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 27 0.043
525
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27 0.043
526
c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27 0.043
527
c ORF033 Orofaciodigital Syndrome V 27 0.043
528
c MCR252 Microphthalmia, Syndromic 5 27 0.043
529
MTC088 Mitochondrial Dna Depletion Syndrome 13 26 0.043
530
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 26 0.043
531
TTR027 Tetrasomy 15q26 26 0.043
532
CHR399 Chromosome 4q21 Deletion Syndrome 26 0.043
533
16Q001 16q24.3 Microdeletion Syndrome 26 0.043
534
CMB020 Combined Saposin Deficiency 26 0.043
535
c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26 0.043
536
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 26 0.043
537
WLL012 Williams-Beuren Region Duplication Syndrome 26 0.043
538
c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26 0.043
539
CLS047 Classic Progressive Supranuclear Palsy Syndrome 25 0.043
540
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25 0.043
541
c PNT039 Pontocerebellar Hypoplasia, Type 7 25 0.043
542
CHR225 Chromosome 1q21.1 Duplication Syndrome 25 0.043
543
c MNT210 Mental Retardation, Autosomal Recessive 42 25 0.043
544
GLT011 Glutamine Deficiency, Congenital 25 0.043
545
BRK011 Brooks-Wisniewski-Brown Syndrome 25 0.043
546
3HY001 3-Hydroxyisobutyric Aciduria 25 0.043
547
P SYN064 Syndromic X-Linked Intellectual Disability 25 0.043
548
CHR366 Chromosome 5p13 Duplication Syndrome 25 0.043
549
c MNT295 Mental Retardation, X-Linked, Syndromic 33 25 0.043
550
c CFF010 Coffin-Siris Syndrome 3 25 0.043
551
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 25 0.043
552
SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 25 0.043
553
MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 24 0.043
554
EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 24 0.043
555
c ORF036 Orofaciodigital Syndrome Xiv 24 0.043
556
c PNT047 Pontocerebellar Hypoplasia, Type 2b 24 0.043
557
c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24 0.043
558
c SPS213 Spastic Paraplegia 75, Autosomal Recessive 24 0.043
559
CMB046 Combined Oxidative Phosphorylation Deficiency 11 24 0.043
560
c CFF009 Coffin-Siris Syndrome 4 24 0.043
561
MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 24 0.043
562
c JBR031 Joubert Syndrome 21 24 0.043
563
c RTT008 Rett Syndrome, Congenital Variant 24 0.043
564
c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24 0.043
565
CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 24 0.043
566
TTR019 Tetrasomy 5p 24 0.043
567
c CFF007 Coffin-Siris Syndrome 2 24 0.043
568
c SPS228 Spastic Paraplegia 63, Autosomal Recessive 24 0.043
569
c MNT280 Mental Retardation, Autosomal Dominant 43 24 0.043
570
ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 23 0.043
571
CHR568 Chromosome 6q24-Q25 Deletion Syndrome 23 0.043
572
IMM185 Immunodeficiency 26 with or Without Neurologic Abnormalities 23 0.043
573
c HLP016 Holoprosencephaly 11 23 0.043
574
c 3MT021 3-Methylglutaconic Aciduria, Type Viii 23 0.043
575
c PHL010 Peho-Like Syndrome 23 0.043
576
c MNT143 Mental Retardation, Autosomal Dominant 13 23 0.043
577
c LKD020 Leukodystrophy, Hypomyelinating, 10 23 0.043
578
P MNT198 Mental Retardation, X-Linked 98 23 0.043
579
c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 23 0.043
580
c MNT270 Mental Retardation, Autosomal Recessive 53 23 0.043
581
DSN002 Desanto-Shinawi Syndrome 23 0.043
582
SKT001 Sakati Syndrome 23 0.043
583
P ALP068 Alopecia-Intellectual Disability Syndrome 23 0.043
584
c JBR011 Joubert Syndrome 7 23 0.043
585
XP2002 Xp22.13p22.2 Duplication Syndrome 23 0.043
586
BLD163 Blood Group, Dombrock System 23 0.043
587
PRX085 Preaxial Hallucal Polydactyly 23 0.043
588
BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 23 0.043
589
EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 23 0.043
590
c EPL028 Epileptic Encephalopathy, Early Infantile, 5 22 0.043
591
MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 22 0.043
592
c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 22 0.043
593
MNN022 Meningoencephalocele 22 0.043
594
MCR064 Microcephaly, Seizures, and Developmental Delay 22 0.043
595
WBB001 Webb-Dattani Syndrome 22 0.043
596
DPL009 Duplication of the Pituitary Gland 22 0.043
597
c JBR042 Joubert Syndrome 23 22 0.043
598
MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 22 0.043
599
VNM002 Van Maldergem Syndrome 2 22 0.043
600
c LKD021 Leukodystrophy, Hypomyelinating, 11 22 0.043
601
c BRT039 Baraitser-Winter Syndrome 2 22 0.043
602
c EPL181 Epileptic Encephalopathy, Early Infantile, 44 22 0.043
603
HLZ001 Holzgreve Syndrome 22 0.043
604
c LKD016 Leukodystrophy, Hypomyelinating, 9 22 0.043
605
c MCR269 Microcephaly 15, Primary, Autosomal Recessive 22 0.043
606
c TRC103 Trichothiodystrophy 5, Nonphotosensitive 22 0.043
607
MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 22 0.043
608
c MCK026 Meckel Syndrome 12 21 0.043
609
c MCR236 Microcephaly 13, Primary, Autosomal Recessive 21 0.043
610
CMB064 Combined Oxidative Phosphorylation Deficiency 24 21 0.043
611
MNT256 Mental Retardation, Buenos Aires Type 21 0.043
612
c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 21 0.043
613
c EPL195 Epileptic Encephalopathy, Early Infantile, 53 21 0.043
614
c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 21 0.043
615
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 21 0.043
616
c SKN062 Skin Creases, Congenital Symmetric Circumferential, 2 21 0.043
617
c PRX062 Peroxisome Biogenesis Disorder 8b 21 0.043
618
c EPL191 Epileptic Encephalopathy, Early Infantile, 48 21 0.043
619
CMB016 Combined Oxidative Phosphorylation Deficiency 5 21 0.043
620
c MCR314 Microcephaly 16, Primary, Autosomal Recessive 21 0.043
621
c PRV018 Periventricular Nodular Heterotopia 7 21 0.043
622
MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 21 0.043
623
HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 21 0.043
624
DST044 Distal Trisomy 14q 21 0.043
625
c MNT159 Mental Retardation, Autosomal Dominant 19 20 0.043
626
c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20 0.043
627
c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 20 0.043
628
c EPL139 Epileptic Encephalopathy, Early Infantile, 28 20 0.043
629
SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 20 0.043
630
6QT002 6q Terminal Deletion Syndrome 20 0.043
631
MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 20 0.043
632
c MNT244 Mental Retardation, Autosomal Recessive 49 20 0.043
633
CRN083 Craniofacial Dyssynostosis 20 0.043
634
SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 20 0.043
635
PRV020 Periventricular Heterotopia with Microcephaly, Autosomal Recessive 20 0.043
636
HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 20 0.043
637
CRN076 Crane-Heise Syndrome 20 0.043
638
CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 20 0.043
639
1Q4001 1q44 Microdeletion Syndrome 20 0.043
640
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 20 0.043
641
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 19 0.043
642
CMB048 Combined Oxidative Phosphorylation Deficiency 15 19 0.043
643
CMB071 Combined Oxidative Phosphorylation Deficiency 27 19 0.043
644
c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19 0.043
645
SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 19 0.043
646
c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 19 0.043
647
c HYD040 Hydrolethalus Syndrome 2 19 0.043
648
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19 0.043
649
HDZ001 Hadziselimovic Syndrome 19 0.043
650
INT312 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 19 0.043
651
11Q001 11q22.2q22.3 Microdeletion Syndrome 18 0.043
652
19P001 19p13.12 Microdeletion Syndrome 18 0.043
653
c MNT325 Mental Retardation, Autosomal Recessive 61 18 0.043
654
EPG004 Epignathus 18 0.043
655
AXN011 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 18 0.043
656
CRB164 Cerebrooculonasal Syndrome 18 0.043
657
8PN001 8p Inverted Duplication/deletion Syndrome 18 0.043
658
SNR002 Sener Syndrome 18 0.043
659
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 18 0.043
660
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 18 0.043
661
MYC060 Mycophenolate Mofetil Embryopathy 18 0.043
662
DFN300 Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 17 0.043
663
14Q001 14q12 Microdeletion Syndrome 17 0.043
664
AMN013 Aminopterin/methotrexate Embryofetopathy 17 0.043
665
SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 17 0.043
666
16P003 16p13.11 Microdeletion Syndrome 17 0.043
667
MNS013 Monosomy 13q34 17 0.043
668
TYS007 Tyshchenko Syndrome 17 0.043
669
INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 17 0.043
670
NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 17 0.043
671
ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 17 0.043
672
INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 17 0.043
673
CMB051 Combined Oxidative Phosphorylation Deficiency 21 16 0.043
674
LNR012 Linear Verrucous Nevus Syndrome 16 0.043
675
20Q001 20q13.33 Microdeletion Syndrome 16 0.043
676
MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16 0.043
677
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 15 0.043
678
CNS012 Cono-Spondylar Dysplasia 15 0.043
679
c MTR057 Maternal Uniparental Disomy of Chromosome X 15 0.043
680
LKN005 Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema 15 0.043
681
CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 15 0.043
682
LKN004 Leukoencephalopathy Palmoplantar Keratoderma 15 0.043
683
FTL066 Fetal Akinesia Syndrome, X-Linked 15 0.043
684
INF053 Infantile Spasms Broad Thumbs 15 0.043
685
ABS003 Absence of Septum Pellucidum 14 0.043
686
STV008 Stevenson-Carey Syndrome 12 0.043
687
MCR345 Microcephaly with Simplified Gyral Pattern 12 0.043
688
MDL027 Midline Malformations, Multiple, with Limb Abnormalities and Hypopituitarism 11 0.043
689
MCR347 Macrocephaly and Epileptic Encephalopathy 11 0.043
690
OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 11 0.043
691
XLN092 X-Linked Neurodegenerative Syndrome, Bertini Type 11 0.043
692
ENC053 Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 10 0.043
693
BWN007 Bowen Syndrome of Multiple Malformations 10 0.043
694
P ALZ034 Alzheimer Disease 95 0.041
695
P PNC044 Pancreatitis 64 0.041
696
WST001 West Syndrome 57 0.041
697
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.041
698
P RTT002 Rett Syndrome 82 0.036
699
P PLM037 Pulmonary Hypertension 79 0.036
700
P CRV035 Cervical Cancer 72 0.036
701
P DBT009 Diabetes Mellitus 72 0.036
702
P NJM001 Nijmegen Breakage Syndrome 69 0.036
703
P TBR001 Tuberous Sclerosis 69 0.036
704
c CNT035 Central Nervous System Disease 65 0.036
705
THR024 Thrombosis 61 0.036
706
P HMN010 Hemangioma 61 0.036
707
P ANT006 Antiphospholipid Syndrome 59 0.036
708
FCL014 Focal Epilepsy 56 0.036
709
P DBT005 Diabetes Insipidus 54 0.036
710
TMP001 Temporal Lobe Epilepsy 54 0.036
711
PRV004 Periventricular Leukomalacia 53 0.036
712
HMM003 Hemimegalencephaly 47 0.036
713
LKM006 Leukomalacia 46 0.036
714
c PLY146 Polycystic Liver Disease 1 45 0.036
715
ALX001 Alexia 44 0.036
716
c PRX059 Peroxisome Biogenesis Disorder 1a 41 0.036
717
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.036
718
OBS004 Obstructive Hydrocephalus 37 0.036
719
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.036
720
STR067 Stroke, Ischemic 84 0.030
721
AST005 Asthma 83 0.030
722
c MCL042 Macular Degeneration, Age-Related, 1 79 0.030
723
P HNT016 Huntington Disease 78 0.030
724
P OST002 Osteoporosis 75 0.030
725
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.030
726
P HPT021 Hepatitis 75 0.030
727
PHN003 Phenylketonuria 73 0.030
728
ANX010 Anxiety 72 0.030
729
FBR012 Fabry Disease 72 0.030
730
ADR007 Adrenoleukodystrophy 72 0.030
731
P RSP003 Respiratory Failure 71 0.030
732
P PNM007 Pneumonia 70 0.030
733
P HRP006 Herpes Simplex 70 0.030
734
DWN001 Down Syndrome 70 0.030
735
P TTR001 Tetralogy of Fallot 70 0.030
736
P MJR001 Major Depressive Disorder 70 0.030
737
c MNN043 Meningioma, Familial 69 0.030
738
P KDN018 Kidney Disease 69 0.030
739
P FRG001 Fragile X Syndrome 69 0.030
740
GLB015 Glioblastoma Multiforme 68 0.030
741
P CRN037 Craniosynostosis 68 0.030
742
c PRM196 Premature Ovarian Failure 1 68 0.030
743
P NMN002 Niemann-Pick Disease 68 0.030
744
P ATT013 Attention Deficit-Hyperactivity Disorder 67 0.030
745
P CNJ013 Conjunctivitis 67 0.030
746
P MSC005 Muscular Dystrophy 66 0.030
747
P AST007 Astrocytoma 66 0.030
748
ATM095 Autoimmune Disease 66 0.030
749
P THN009 Thanatophoric Dysplasia, Type I 66 0.030
750
PCK003 Pick Disease of Brain 66 0.030
751
ACR006 Aceruloplasminemia 65 0.030
752
CNT097 Central Hypoventilation Syndrome, Congenital 65 0.030
753
MDD011 Mood Disorder 64 0.030
754
P HRS035 Hirschsprung Disease 1 64 0.030
755
VLC001 Velocardiofacial Syndrome 64 0.030
756
ART005 Arteriovenous Malformation 64 0.030
757
P NRC002 Narcolepsy 64 0.030
758
c HPT003 Hepatitis a 63 0.030
759
SHW002 Shwachman-Diamond Syndrome 63 0.030
760
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 63 0.030
761
c NRF024 Neurofibromatosis, Type I 63 0.030
762
P MCH002 Machado-Joseph Disease 63 0.030
763
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 62 0.030
764
P CMR001 Camurati-Engelmann Disease 62 0.030
765
CLF027 Cleft Palate, Isolated 61 0.030
766
P MCP040 Mucopolysaccharidosis-Plus Syndrome 61 0.030
767
PLM070 Pulmonic Stenosis 61 0.030
768
P BPL003 Bipolar Disorder 61 0.030
769
MNT002 Mental Depression 60 0.030
770
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.030
771
P DRR001 Diarrhea 60 0.030
772
TRG002 Trigeminal Neuralgia 60 0.030
773
P HMR012 Hemorrhagic Fever 60 0.030
774
P FCL005 Focal Segmental Glomerulosclerosis 60 0.030
775
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59 0.030
776
SNS001 Sensorineural Hearing Loss 59 0.030
777
TRD006 Tardive Dyskinesia 59 0.030
778
MSC165 Muscular Dystrophy, Congenital, Lmna-Related 59 0.030
779
STR039 Sturge-Weber Syndrome 59 0.030
780
c BCT007 Bacterial Meningitis 59 0.030
781
P HYP083 Hypopituitarism 59 0.030
782
THR009 Thrombocytopenia-Absent Radius Syndrome 58 0.030
783
P PLY019 Polyneuropathy 58 0.030
784
APH002 Aphasia 58 0.030
785
P HLL001 Hallermann-Streiff Syndrome 58 0.030
786
DMY004 Demyelinating Disease 58 0.030
787
INT146 Intervertebral Disc Disease 58 0.030
788
c NMN015 Niemann-Pick Disease, Type C1 57 0.030
789
PTT046 Pituitary Hormone Deficiency, Combined, 2 57 0.030
790
P MLT007 Multiple Epiphyseal Dysplasia 57 0.030
791
P SBS003 Substance Abuse 57 0.030
792
c CRP023 Carpenter Syndrome 1 57 0.030
793
P PNC025 Panic Disorder 57 0.030
794
P ACR001 Aicardi-Goutieres Syndrome 57 0.030
795
P RTN016 Retinal Degeneration 56 0.030
796
P MYP006 Myopia 56 0.030
797
HMN009 Hemangioblastoma 56 0.030
798
NRT004 Neuritis 55 0.030
799
P HYP024 Hypoparathyroidism 55 0.030
800
STR008 Strongyloidiasis 54 0.030
801
P SMP003 Simpson-Golabi-Behmel Syndrome 54 0.030
802
LPD016 Lipoid Proteinosis of Urbach and Wiethe 54 0.030
803
P CNV004 Canavan Disease 54 0.030
804
DNY001 Denys-Drash Syndrome 54 0.030
805
TBR011 Tuberculous Meningitis 54 0.030
806
LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 54 0.030
807
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54 0.030
808
OPT009 Optic Neuritis 53 0.030
809
PRP019 Peripheral Nervous System Disease 53 0.030
810
LGN001 Legionnaires' Disease 53 0.030
811
APR001 Apraxia 52 0.030
812
c HPT015 Hepatitis D 52 0.030
813
RTN023 Retinitis 52 0.030
814
c SCN036 Secondary Progressive Multiple Sclerosis 52 0.030
815
STT041 Stuttering 52 0.030
816
CCN001 Cocaine Dependence 52 0.030
817
NNT017 Neonatal Adrenoleukodystrophy 52 0.030
818
P THR117 Three M Syndrome 1 52 0.030
819
P MNN019 Mannosidosis, Beta a, Lysosomal 52 0.030
820
MYL003 Myeloid Sarcoma 51 0.030
821
CRT033 Corticobasal Degeneration 51 0.030
822
BRX001 Bruxism 51 0.030
823
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.030
824
INT054 Intraocular Lymphoma 50 0.030
825
P GND004 Gonadal Dysgenesis 50 0.030
826
PRT029 Parathyroid Adenoma 50 0.030
827
P LPM005 Lipomatosis 50 0.030
828
c BPL002 Bipolar I Disorder 50 0.030
829
SYN005 Synostosis 50 0.030
830
ANS023 Anus, Imperforate 50 0.030
831
c VRL012 Viral Meningitis 49 0.030
832
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.030
833
PYL017 Pyle Disease 49 0.030
834
BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 49 0.030
835
RNL078 Renal Dysplasia 49 0.030
836
ASP007 Aspiration Pneumonia 49 0.030
837
AND020 Androgen Insensitivity, Partial 49 0.030
838
PLM041 Pulmonary Valve Stenosis 48 0.030
839
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.030
840
c FTL006 Fetal Alcohol Spectrum Disorder 48 0.030
841
DYS073 Dysphagia 47 0.030
842
P CLB034 Coloboma, Ocular, Autosomal Dominant 47 0.030
843
HYD061 Hydrocephalus, Normal-Pressure 47 0.030
844
TRN022 Transcobalamin Ii Deficiency 47 0.030
845
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 47 0.030
846
TRC040 Tracheoesophageal Fistula 47 0.030
847
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.030
848
LYM004 Lymphoid Interstitial Pneumonia 47 0.030
849
LYM009 Lymphocytic Choriomeningitis 46 0.030
850
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 46 0.030
851
P ORF001 Orofaciodigital Syndrome 46 0.030
852
HYP085 Hypothalamic Disease 46 0.030
853
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.030
854
P D2H002 D-2-Hydroxyglutaric Aciduria 1 46 0.030
855
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.030
856
CRB004 Cerebral Artery Occlusion 46 0.030
857
NSP002 Nasopharyngitis 46 0.030
858
END020 Endocardial Fibroelastosis 46 0.030
859
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.030
860
RNS001 Raine Syndrome 45 0.030
861
BRN014 Bronchopneumonia 45 0.030
862
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.030
863
NRL004 Neuroleptic Malignant Syndrome 44 0.030
864
P MNN018 Mannosidosis 44 0.030
865
P FNG006 Feingold Syndrome 1 44 0.030
866
EST005 Esotropia 43 0.030
867
c ATS275 Autosomal Recessive Primary Microcephaly 43 0.030
868
DRM013 Dermoid Cyst 43 0.030
869
P INF016 Infantile Epileptic Encephalopathy 43 0.030
870
BNS003 Binswanger's Disease 43 0.030
871
MTS001 Mutism 42 0.030
872
PHY002 Physical Disorder 42 0.030
873
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.030
874
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.030
875
MTC004 Mitochondrial Encephalomyopathy 42 0.030
876
ADP007 Adie Pupil 41 0.030
877
P OPT048 Opitz-Gbbb Syndrome 41 0.030
878
P ENC011 Encephalomyopathy 40 0.030
879
STR015 Stereotypic Movement Disorder 40 0.030
880
WBR001 Weber Syndrome 40 0.030
881
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 40 0.030
882
c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 40 0.030
883
MTR007 Motor Peripheral Neuropathy 39 0.030
884
MHR001 Mohr-Tranebjaerg Syndrome 39 0.030
885
GLC042 Glucocorticoid Deficiency 1 39 0.030
886
c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 39 0.030
887
CHR174 Christianson Syndrome 39 0.030
888
P TRC005 Tracheal Stenosis 39 0.030
889
BNM029 Bone Mineral Density Quantitative Trait Locus 15 39 0.030
890
TLP001 Talipes Equinovarus 38 0.030
891
CRN247 Corneal Dystrophy, Thiel-Behnke Type 38 0.030
892
c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38 0.030
893
PST086 Posterior Cortical Atrophy 38 0.030
894
P AXN001 Axonal Neuropathy 38 0.030
895
SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 37 0.030
896
c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 37 0.030
897
EPL131 Epilepsy, Pyridoxine-Dependent 37 0.030
898
SCH011 Schizotypal Personality Disorder 36 0.030
899
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36 0.030
900
MLG120 Malignant Migrating Partial Seizures of Infancy 36 0.030
901
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36 0.030
902
KFM001 Kaufman Oculocerebrofacial Syndrome 36 0.030
903
ECH002 Echolalia 35 0.030
904
LGN006 Legionnaire Disease 35 0.030
905
EPC005 Epicanthus 35 0.030
906
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 35 0.030
907
SGT001 Sagittal Sinus Thrombosis 34 0.030
908
SPN331 Spondyloocular Syndrome 34 0.030
909
STR094 Stromme Syndrome 34 0.030
910
DND005 Dandy-Walker Complex 33 0.030
911
CRB001 Cerebral Lymphoma 33 0.030
912
MTH047 Methanol Poisoning 32 0.030
913
BNM022 Bone Mineral Density Quantitative Trait Locus 8 32 0.030
914
P WRB001 Warburg Micro Syndrome 32 0.030
915
CRB147 Cerebellofaciodental Syndrome 32 0.030
916
CHL109 Childhood Apraxia of Speech 31 0.030
917
SPT016 Septopreoptic Holoprosencephaly 31 0.030
918
P ACR093 Acrofrontofacionasal Dysostosis 31 0.030
919
CHR582 Chromosome 3q29 Duplication Syndrome 31 0.030
920
SWY001 Swayback 30 0.030
921
c CNG031 Congenital Nervous System Abnormality 30 0.030
922
BYL001 Baylisascariasis 30 0.030
923
MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 30 0.030
924
ANT019 Anterograde Amnesia 29 0.030
925
SMT020 Smith-Kingsmore Syndrome 29 0.030
926
FRS007 Frias Syndrome 29 0.030
927
ZKV001 Zika Virus Infection 28 0.030
928
FNT005 Fontaine Progeroid Syndrome 28 0.030
929
MBD001 Mbd5 Haploinsufficiency 28 0.030
930
P ACR106 Acrocephalopolysyndactyly Type Iii 28 0.030
931
c SPS036 Spastic Paraplegia 3 28 0.030
932
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28 0.030
933
c PNT046 Pontocerebellar Hypoplasia, Type 5 28 0.030
934
ORB007 Orbital Cyst 28 0.030
935
LKN007 Leukonychia Totalis 27 0.030
936
SYN057 Syndromic Intellectual Disability 27 0.030
937
SPT019 Septo-Optic Dysplasia Spectrum 27 0.030
938
ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 27 0.030
939
FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 27 0.030
940
PTC006 Potocki-Luspski Syndrome 27 0.030
941
c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 27 0.030
942
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 27 0.030
943
c TRS012 Trisomy 22 26 0.030
944
c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26 0.030
945
3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 26 0.030
946
PCD001 Pica Disease 26 0.030
947
c MCK033 Meckel Syndrome, Type 4 26 0.030
948
P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 25 0.030
949
FBR088 Fibromatosis, Gingival, with Progressive Deafness 25 0.030
950
c HLP025 Holoprosencephaly 9 25 0.030
951
MND023 Mend Syndrome 25 0.030
952
ANT007 Anterior Horn Cell Disease 25 0.030
953
c FNC029 Fanconi Anemia, Complementation Group I 25 0.030
954
c CRN217 Craniosynostosis 3 25 0.030
955
OCC011 Occipital Encephalocele 25 0.030
956
c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 24 0.030
957
RMR001 Ramer Ladda Syndrome 24 0.030
958
c MCR223 Microcephaly 10, Primary, Autosomal Recessive 24 0.030
959
SSR001 Ssr4-Cdg 24 0.030
960
c MCR248 Microcephaly 3, Primary, Autosomal Recessive 24 0.030
961
ALZ030 Alazami Syndrome 24 0.030
962
c STS007 Sotos Syndrome 2 24 0.030
963
c SPS025 Spastic Paraplegia 15 23 0.030
964
HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 23 0.030
965
WHT019 White-Sutton Syndrome 23 0.030
966
CHL058 Childhood Electroclinical Syndrome 23 0.030
967
ADL051 Adolescence-Adult Electroclinical Syndrome 23 0.030
968
c PNT050 Pontocerebellar Hypoplasia, Type 11 22 0.030
969
BFD001 Bifid Nose 22 0.030
970
CHR502 Chromosome 17q12 Duplication Syndrome 22 0.030
971
c MNT176 Mental Retardation, Autosomal Recessive 38 22 0.030
972
SHR085 Short-Rib Thoracic Dysplasia 14 with Polydactyly 21 0.030
973
WDS002 Woods Syndrome 21 0.030
974
HYP767 Hyperlexia 21 0.030
975
c EPL154 Epilepsy, Progressive Myoclonic, 9 21 0.030
976
IMM141 Immunodeficiency 49 21 0.030
977
SCH024 Schinzel Giedion Syndrome 21 0.030
978
c CRD167 Cardiofaciocutaneous Syndrome 4 21 0.030
979
CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 21 0.030
980
PNL021 Pineal Cyst 21 0.030
981
c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 20 0.030
982
SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 20 0.030
983
MXD001 Mixed Cerebral Palsy 20 0.030
984
c SPS020 Spastic Paraplegia 1 20 0.030
985
c MNT282 Mental Retardation, Autosomal Recessive 55 20 0.030
986
5Q1001 5q14.3 Microdeletion Syndrome 20 0.030
987
NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 20 0.030
988
NLX003 Neu-Laxova Syndrome 2 20 0.030
989
MCR286 Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome 20 0.030
990
BRC116 Brachial Amelia, Cleft Lip, and Holoprosencephaly 20 0.030
991
TMM013 Tmem70 Defect 19 0.030
992
c EPL194 Epileptic Encephalopathy, Early Infantile, 55 19 0.030
993
LKN018 Leukoencephalopathy, Progressive, with Ovarian Failure 19 0.030
994
CMB063 Combined Oxidative Phosphorylation Deficiency 25 19 0.030
995
SPN357 Spondyloepimetaphyseal Dysplasia, Micromelic 18 0.030
996
MSL004 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis 18 0.030
997
c GLL040 Galloway-Mowat Syndrome 3 18 0.030
998
c EPL190 Epileptic Encephalopathy, Early Infantile, 49 18 0.030
999
MCR326 Microcephaly-Micromelia Syndrome 18 0.030
1000
c SPS028 Spastic Paraplegia 18 18 0.030
1001
c CNG100 Congenital Herpes Simplex 17 0.030
1002
INT310 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 17 0.030
1003
ALK023 Al Kaissi Syndrome 17 0.030
1004
c CNG370 Congenital Tracheal Stenosis 17 0.030
1005
SHR065 Short Stature with Microcephaly and Distinctive Facies 17 0.030
1006
c FNC061 Fanconi Anemia, Complementation Group W 16 0.030
1007
FRN041 Frontonasal Dysplasia with Alopecia and Genital Anomaly 16 0.030
1008
BRN007 Brain Oligodendroglioma 16 0.030
1009
c MNT323 Mental Retardation, Autosomal Dominant 48 15 0.030
1010
c SPS161 Spastic Paraplegia 32 15 0.030
1011
CMP082 Complex Cortical Dysplasia with Other Brain Malformations 15 0.030
1012
SKR001 Skraban-Deardorff Syndrome 15 0.030
1013
THK001 Thakker-Donnai Syndrome 15 0.030
1014
c EPL213 Epileptic Encephalopathy, Early Infantile, 57 14 0.030
1015
ENC059 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity 14 0.030
1016
c MCR356 Microcephaly 19, Primary, Autosomal Recessive 13 0.030
1017
GZP004 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 13 0.030
1018
c JBR044 Joubert Syndrome 31 13 0.030
1019
ALK024 Alkuraya-Kucinskas Syndrome 13 0.030
1020
HYP696 Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 13 0.030
1021
CHR383 Chromosome 1p32-P31 Deletion Syndrome 13 0.030
1022
CHR223 Chromosome 1q Deletion 12 0.030
1023
CNG067 Congenital Cystic Eye 12 0.030
1024
NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 12 0.030
1025
ISL075 Isolated Pierre Robin Sequence 11 0.030
1026
PST092 Posttransplant Acute Limbic Encephalitis 11 0.030
1027
OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 10 0.030
1028
LKD026 Leukodystrophy, Progressive, Early Childhood-Onset 9 0.030
1029
CRB034 Cerebral Hemisphere Lipoma 9 0.030
1030
NRD040 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 8 0.030
1031
CHR259 Chromosome 6q25 Microdeletion Syndrome 7 0.030
1032
FML160 Familial Spastic Paralysis 6 0.030
Content
Loading form....