Search results for "corpus callosum"

The MalaCard for "corpus callosum" has been retired.
Searching MalaCards for entries containing "corpus callosum"

792 hits were found for 'corpus callosum'

# Family MCID Name MIFTS Score
1
HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 16 7.562
2
VCS001 Vici Syndrome 50 5.547
3
CRP010 Corpus Callosum Agenesis 38 5.351
4
PRD011 Proud Syndrome 42 5.252
5
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 27 4.923
6
CRP025 Corpus Callosum, Partial Agenesis of 22 4.877
7
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 24 4.868
8
MSS001 Masa Syndrome 49 4.548
9
c SPS092 Spastic Paraplegia 11 24 4.108
10
CHD004 Chudley-Mccullough Syndrome 32 3.788
11
ACR012 Aicardi Syndrome 45 3.766
12
CRP003 Corpus Callosum Lipoma 18 3.749
13
CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 20 3.732
14
TMT003 Temtamy Syndrome 27 3.723
15
CRP011 Corpus Callosum Agenesis Double Urinary Collecting 12 3.717
16
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 31 3.693
17
WHT018 White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome 14 3.286
18
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 15 3.242
19
XLN149 X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis 8 3.232
20
ACR008 Acrocallosal Syndrome 51 2.727
21
DNN002 Donnai-Barrow Syndrome 36 2.727
22
MCR061 Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 9 2.663
23
CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 19 2.639
24
SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 9 2.639
25
CRN265 Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development 20 2.626
26
c MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 33 2.611
27
CMB013 Combined Oxidative Phosphorylation Deficiency 2 21 2.611
28
GRH004 Graham-Cox Syndrome 6 2.611
29
SPS189 Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome 5 2.611
30
P FCL005 Focal Segmental Glomerulosclerosis 59 2.575
31
XLN107 X-Linked Lissencephaly with Abnormal Genitalia 23 2.575
32
SHP003 Shapiro Syndrome 27 1.955
33
ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 14 1.911
34
c LSS012 Lissencephaly, X-Linked 2 23 1.897
35
CRP024 Corpus Callosum Oligodendroglioma 5 1.897
36
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 3 1.883
37
FCL018 Facial Clefting Corpus Callosum Agenesis 1 1.883
38
BND006 Bone Dysplasia Corpus Callosum Agenesis 3 1.883
39
PLY047 Polysyndactyly Trigonocephaly Agenesis of Corpus Callosum 1 1.883
40
HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 1 1.883
41
STR027 Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 2 1.883
42
CRP012 Corpus Callosum Agenesis of Blepharophimosis Robin Type 1 1.876
43
CRP013 Corpus Callosum Dysgenesis Cleft Spasm 1 1.876
44
CRP014 Corpus Callosum Dysgenesis Hypopituitarism 1 1.876
45
CRP015 Corpus Callosum Dysgenesis X-Linked Recessive 1 1.876
46
c MNT213 Mental Retardation, Autosomal Recessive 40 20 1.866
47
c MCR217 Microphthalmia, Syndromic 11 22 1.866
48
THR039 Thrombocytopenia Robin Sequence 15 1.866
49
CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 5 1.866
50
BNR003 Ben Ari Shuper Mimouni Syndrome 4 1.866
51
PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 5 1.866
52
MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 7 1.866
53
SPG001 Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum 3 1.866
54
P LSS027 Lissencephaly, X-Linked 42 1.846
55
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 23 1.846
56
c MNT245 Mental Retardation, Autosomal Dominant 36 17 1.846
57
PLR009 Pol Iii-Related Leukodystrophies 39 1.821
58
CLL019 Calloso-Genital Dysplasia 5 1.821
59
DKR001 Duker Weiss Siber Syndrome 3 1.821
60
KZL003 Kozlowski Ouvrier Syndrome 3 1.821
61
SKD001 Sakoda Complex 4 1.821
62
SLB001 Saal Bulas Syndrome 3 1.821
63
SPS057 Spasticity 41 0.274
64
PRP016 Paraplegia 49 0.228
65
c HRD010 Hereditary Spastic Paraplegia 66 0.210
66
P MCR010 Microcephaly 60 0.178
67
LPM004 Lipoma 59 0.147
68
P INT063 Intellectual Disability 46 0.142
69
P TRC086 Trichohepatoenteric Syndrome 1 46 0.134
70
P EPL164 Epilepsy 60 0.128
71
PLY024 Polymicrogyria 34 0.120
72
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 32 0.116
73
P NRP001 Neuropathy 57 0.110
74
MRC001 Marchiafava Bignami Disease 33 0.107
75
P HYD006 Hydrocephalus 68 0.105
76
END072 Endotheliitis 41 0.103
77
CRB009 Cerebritis 36 0.103
78
NRN002 Neuronitis 40 0.100
79
P LSS002 Lissencephaly 48 0.098
80
CLF001 Cleft Lip 48 0.098
81
P MWT001 Mowat-Wilson Syndrome 50 0.093
82
DND001 Dandy-Walker Syndrome 42 0.093
83
P SCH018 Schizencephaly 51 0.093
84
P HLP001 Holoprosencephaly 62 0.093
85
SPS019 Spastic Paraparesis 34 0.093
86
ALR002 Al-Raqad Syndrome 36 0.092
87
P ENC008 Encephalocele 48 0.090
88
CLP002 Colpocephaly 15 0.088
89
P SCH015 Schizophrenia 78 0.084
90
LNN001 Lennox-Gastaut Syndrome 51 0.079
91
ARC007 Arachnoid Cysts 39 0.078
92
ARC002 Arachnoiditis 38 0.078
93
ACR041 Acromelic Frontonasal Dysostosis 45 0.076
94
P FRN036 Frontonasal Dysplasia 1 31 0.076
95
OCL034 Oculocerebrocutaneous Syndrome 29 0.076
96
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.074
97
c JBR020 Joubert Syndrome 1 57 0.069
98
APR006 Apert Syndrome 66 0.069
99
P CFF001 Coffin-Siris Syndrome 55 0.069
100
CFF002 Coffin-Lowry Syndrome 56 0.069
101
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 41 0.069
102
MCR013 Microphthalmia 57 0.069
103
P PLY006 Polydactyly 56 0.069
104
QDR001 Quadriplegia 51 0.069
105
BLP004 Blepharophimosis 38 0.069
106
P CHN005 Choanal Atresia 42 0.069
107
MGL013 Megalencephaly 50 0.069
108
BRT030 Birth Defects 44 0.069
109
CHR078 Chorioretinitis 41 0.069
110
c FRN037 Frontal Encephalocele 20 0.069
111
P HYP265 Hypotonia 39 0.069
112
ADR016 Adrenal Cortical Carcinoma 60 0.068
113
P MNN013 Meningitis 66 0.068
114
P PLY019 Polyneuropathy 53 0.068
115
P OLG002 Oligodendroglioma 55 0.065
116
OBS002 Obsessive-Compulsive Disorder 66 0.062
117
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 49 0.062
118
SMT004 Smith-Lemli-Opitz Syndrome 66 0.062
119
GRG001 Greig Cephalopolysyndactyly Syndrome 53 0.062
120
P MCR241 Microphthalmia, Syndromic 3 33 0.062
121
CSY001 C Syndrome 49 0.062
122
CHR222 Chromosome 1p36 Deletion Syndrome 43 0.062
123
SPT006 Septooptic Dysplasia 36 0.062
124
BHR002 Bohring-Opitz Syndrome 35 0.062
125
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 44 0.062
126
DSM002 Desmosterolosis 31 0.062
127
NLX002 Neu-Laxova Syndrome1 35 0.062
128
CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 36 0.062
129
BHR001 Behr Syndrome 43 0.062
130
FRY002 Fryns Syndrome 37 0.062
131
c WRB002 Warburg Micro Syndrome 1 26 0.062
132
CRB045 Cerebellar Hypoplasia 47 0.062
133
SKN023 Skin Tag 48 0.062
134
P CTR002 Cataract 57 0.062
135
PCH002 Pachygyria 39 0.062
136
PLY110 Polymicrogyria, Bilateral Temporooccipital 23 0.062
137
LSS026 Lissencephaly 6, with Microcephaly 18 0.062
138
P LTR001 Lateral Sclerosis 50 0.062
139
ALB002 Albinism 43 0.062
140
ENT001 Enterocele 39 0.062
141
CRN266 Craniofacial Dyssynostosis with Short Stature 15 0.062
142
ACR007 Acromegaly 66 0.060
143
FCL009 Focal Dermal Hypoplasia 52 0.060
144
P NRM001 Neuromyelitis Optica 55 0.060
145
CYT008 Cytomegalovirus Infection 51 0.060
146
P CHR342 Chiari Malformation 36 0.060
147
SRC014 Sarcoma 66 0.060
148
STT001 Status Epilepticus 59 0.057
149
CHL078 Childhood-Onset Schizophrenia 32 0.057
150
PTR006 Peters Anomaly 64 0.054
151
MVD001 Moved to 60 0.054
152
GST092 Gastroesophageal Reflux 62 0.054
153
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 45 0.054
154
P MCK022 Meckel Syndrome 1 54 0.054
155
CRN248 Craniofrontonasal Dysplasia 45 0.054
156
MLL018 Miller-Dieker Lissencephaly Syndrome 47 0.054
157
FMR004 Fumarase Deficiency 38 0.054
158
SNG010 Single Median Maxillary Central Incisor 52 0.054
159
c MCR251 Microphthalmia, Syndromic 6 29 0.054
160
c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 27 0.054
161
HMF006 Hemifacial Microsomia 54 0.054
162
GNT031 Genitopatellar Syndrome 41 0.054
163
P HYP086 Hypothyroidism 63 0.054
164
MCR257 Microcephaly, Amish Type 27 0.054
165
c ORF037 Orofaciodigital Syndrome I 43 0.054
166
GLD002 Goldberg-Shprintzen Megacolon Syndrome 28 0.054
167
OPT054 Opitz-Kaveggia Syndrome 29 0.054
168
c BRT038 Baraitser-Winter Syndrome 1 30 0.054
169
PTC002 Potocki-Lupski Syndrome 33 0.054
170
CHR492 Chromosome 13q14 Deletion Syndrome 38 0.054
171
c LSS009 Lissencephaly 3 23 0.054
172
P MRD002 Marden-Walker Syndrome 39 0.054
173
c EPL102 Epileptic Encephalopathy, Early Infantile, 18 23 0.054
174
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 24 0.054
175
P EXP004 Exophthalmos 56 0.054
176
c FRN033 Frontonasal Dysplasia 2 33 0.054
177
HRT030 Hartsfield Syndrome 28 0.054
178
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 24 0.054
179
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 30 0.054
180
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 24 0.054
181
c EPL119 Epileptic Encephalopathy, Early Infantile, 17 22 0.054
182
c PNT030 Pontocerebellar Hypoplasia, Type 8 24 0.054
183
c MNT158 Mental Retardation, Autosomal Dominant 22 22 0.054
184
SPS004 Spastic Quadriplegia 36 0.054
185
P MGR003 Migraine with Aura 52 0.054
186
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 29 0.054
187
AGN012 Agnathia-Otocephaly Complex 53 0.054
188
c PNT032 Pontocerebellar Hypoplasia, Type 9 22 0.054
189
ENC010 Encephalocraniocutaneous Lipomatosis 34 0.054
190
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 38 0.054
191
CHR483 Chromosome 3q13.31 Deletion Syndrome 18 0.054
192
CHR383 Chromosome 1p32-P31 Deletion Syndrome 22 0.054
193
PSD046 Pseudotrisomy 13 Syndrome 24 0.054
194
c PNT035 Pontocerebellar Hypoplasia, Type 1c 21 0.054
195
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 33 0.054
196
FCL064 Facial Dysmorphism with Multiple Malformations 25 0.054
197
DXT001 Dextrocardia 44 0.054
198
P TRM003 Tremor 54 0.054
199
CRN104 Craniotelencephalic Dysplasia 18 0.054
200
c VRL012 Viral Meningitis 48 0.054
201
FXG001 Foxg1 Syndrome 14 0.054
202
BND001 Band Keratopathy 26 0.054
203
KRT008 Keratopathy 49 0.054
204
STR046 Stargardt Macular Degeneration 27 0.054
205
ECT006 Ectodermal Dysplasia 46 0.054
206
c CNG031 Congenital Nervous System Abnormality 39 0.054
207
P ORF002 Orofacial Cleft 38 0.054
208
AGN009 Agenesis and Aplasia of Uterine Body 5 0.054
209
CNG069 Congenital Cytomegalovirus 34 0.054
210
MCR275 Microcephaly with Polymicrogyria 7 0.054
211
END079 Endothelial Dystrophy 28 0.054
212
MNT014 Mental Retardation Epilepsy 21 0.054
213
P THY032 Thyroiditis 57 0.051
214
P TRT010 Teratoma 49 0.051
215
P NRF002 Neurofibromatosis 66 0.051
216
PRP019 Peripheral Nervous System Disease 52 0.051
217
P ANR007 Anorexia Nervosa 63 0.051
218
PLY023 Polycystic Liver Disease 57 0.051
219
P EPD009 Epidermolysis Bullosa Dystrophica 55 0.051
220
P HYP083 Hypopituitarism 50 0.051
221
SYN007 Synovitis 56 0.051
222
NRN016 Neuronal Migration Disorders 41 0.051
223
BNN003 Bone Inflammation Disease 46 0.051
224
CRT015 Carotid Artery Occlusion 43 0.051
225
HDN002 Head Injury 47 0.051
226
ADL053 Adult Astrocytic Tumour 36 0.051
227
HPY002 H. Pylori Infection 58 0.048
228
ART021 Arteriosclerosis 59 0.048
229
SMT002 Smooth Muscle Tumor 41 0.048
230
WLL004 Wallerian Degeneration 34 0.048
231
P LYM118 Lymphoma 68 0.046
232
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.044
233
P RBN001 Rubinstein-Taybi Syndrome 65 0.044
234
P AXN010 Axenfeld-Rieger Syndrome, Type 3 52 0.044
235
P HYP370 Hypokalemic Periodic Paralysis, Type 1 51 0.044
236
c LNG044 Long Qt Syndrome 1 59 0.044
237
P AND016 Andersen Syndrome 57 0.044
238
P TBR001 Tuberous Sclerosis 68 0.044
239
P JRV003 Jervell and Lange-Nielsen Syndrome 53 0.044
240
c ORF040 Orofaciodigital Syndrome Viii 49 0.044
241
P STS008 Sotos Syndrome 1 49 0.044
242
CCH002 Coach Syndrome 53 0.044
243
P ALX003 Alexander Disease 64 0.044
244
SMT008 Smith-Magenis Syndrome 49 0.044
245
c LSS005 Lissencephaly 1 44 0.044
246
TWN003 Townes-Brocks Syndrome 55 0.044
247
JCB001 Jacobsen Syndrome 49 0.044
248
PHL006 Phelan-Mcdermid Syndrome 47 0.044
249
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 56 0.044
250
P KLN006 Koolen-De Vries Syndrome 38 0.044
251
P TMT001 Timothy Syndrome 58 0.044
252
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 40 0.044
253
P SDD001 Sudden Infant Death Syndrome 60 0.044
254
CHN016 Cohen Syndrome 55 0.044
255
c FML001 Familial Atrial Fibrillation 59 0.044
256
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 45 0.044
257
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 52 0.044
258
c MCR263 Microphthalmia, Syndromic 1 35 0.044
259
P ART022 Arthritis 73 0.044
260
URB001 Urbach-Wiethe Disease 48 0.044
261
c LNG050 Long Qt Syndrome 5 43 0.044
262
TTR016 Tetra-Amelia Syndrome 30 0.044
263
BLL001 Baller-Gerold Syndrome 52 0.044
264
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 54 0.044
265
YNS002 Yunis-Varon Syndrome 36 0.044
266
P PTS002 Ptosis 56 0.044
267
P LNG028 Long Qt Syndrome 67 0.044
268
MST006 Mast Syndrome 44 0.044
269
P HYD011 Hydrolethalus Syndrome 46 0.044
270
P BRG001 Brugada Syndrome 59 0.044
271
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 39 0.044
272
P ATR011 Atrial Fibrillation 63 0.044
273
MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 27 0.044
274
c KNB004 Knobloch Syndrome, Type 1 31 0.044
275
c MTB001 Metabolic Syndrome X 61 0.044
276
c PNT037 Pontocerebellar Hypoplasia, Type 3 29 0.044
277
SDD003 Saddan 30 0.044
278
SRS007 Sorsby Fundus Dystrophy 47 0.044
279
WLF002 Wolf-Hirschhorn Syndrome 50 0.044
280
MCR025 Microhydranencephaly 34 0.044
281
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 30 0.044
282
OCL001 Ocular Albinism 46 0.044
283
CMB026 Combined Oxidative Phosphorylation Deficiency 12 25 0.044
284
P INF038 Influenza 71 0.044
285
c SPS078 Spastic Paraplegia 7 34 0.044
286
TRS002 Tarsal-Carpal Coalition Syndrome 35 0.044
287
DBF001 D-Bifunctional Protein Deficiency 47 0.044
288
c CLD010 Cold-Induced Sweating Syndrome 1 43 0.044
289
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.044
290
c BRG005 Brugada Syndrome 1 42 0.044
291
c FBR049 Fibrosis of Extraocular Muscles, Congenital, 3a 33 0.044
292
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 25 0.044
293
NRP016 Neuropathy, Recurrent, with Pressure Palsies 30 0.044
294
P ATS049 Autism Susceptibility, X-Linked 2 34 0.044
295
ACN002 Acanthosis Nigricans 59 0.044
296
LRN006 Laurin-Sandrow Syndrome 32 0.044
297
MTR007 Motor Peripheral Neuropathy 44 0.044
298
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 32 0.044
299
P PRS038 Personality Disorder 60 0.044
300
c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 28 0.044
301
OPS006 Opsoclonus-Myoclonus Syndrome 47 0.044
302
P LFT003 Left Ventricular Noncompaction 48 0.044
303
HPT074 Hepatic Adenoma, Somatic 35 0.044
304
P CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 20 0.044
305
LCK001 Locked-in Syndrome 37 0.044
306
c MNT198 Mental Retardation, X-Linked 98 22 0.044
307
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 34 0.044
308
P OST001 Osteopetrosis 63 0.044
309
DBW001 Dubowitz Syndrome 48 0.044
310
c WRB004 Warburg Micro Syndrome 3 20 0.044
311
c SPS114 Spastic Paraplegia 45, Autosomal Recessive 25 0.044
312
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 24 0.044
313
CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 45 0.044
314
P AMY084 Amyloidosis, Finnish Type 45 0.044
315
FMR018 Femoral-Facial Syndrome 28 0.044
316
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 25 0.044
317
c WRB003 Warburg Micro Syndrome 2 23 0.044
318
HRT008 Heart Conduction Disease 43 0.044
319
JBR006 Joubert Syndrome with Oculorenal Anomalies 32 0.044
320
CHR518 Chromosome 9p Deletion Syndrome 26 0.044
321
CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 18 0.044
322
CND002 Conduct Disorder 54 0.044
323
SNS003 Sensory Peripheral Neuropathy 44 0.044
324
XGB001 Xia-Gibbs Syndrome 17 0.044
325
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 18 0.044
326
FRN022 Frontofacionasal Dysplasia 25 0.044
327
3HY009 3-@hydroxyisobutyric Aciduria 19 0.044
328
P CLB027 Coloboma, Ocular 28 0.044
329
P SCL018 Scoliosis 56 0.044
330
P MSC022 Mosaic Variegated Aneuploidy Syndrome 42 0.044
331
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 23 0.044
332
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 23 0.044
333
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 23 0.044
334
P SYN012 Synpolydactyly 39 0.044
335
P GNG025 Gingival Fibromatosis 49 0.044
336
PLY102 Polymicrogyria, Symmetric or Asymmetric 22 0.044
337
TRP014 Triploidy 39 0.044
338
c APL023 Aplasia Cutis Congenita, Nonsyndromic 24 0.044
339
CHL109 Childhood Apraxia of Speech 29 0.044
340
MYL020 Myelomeningocele 50 0.044
341
EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 19 0.044
342
CHR487 Chromosome 8q21.11 Deletion Syndrome 22 0.044
343
P SPS003 Spastic Diplegia 49 0.044
344
c HRD039 Hereditary Amyloidosis 43 0.044
345
GST033 Gestational Diabetes 54 0.044
346
SPN019 Spondylolisthesis 50 0.044
347
P THR014 Thrombocytopenia 63 0.044
348
TRN012 Transient Global Amnesia 38 0.044
349
CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 17 0.044
350
GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 18 0.044
351
BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 22 0.044
352
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 35 0.044
353
c WRB005 Warburg Micro Syndrome 4 19 0.044
354
DGN001 Degenerative Disc Disease 53 0.044
355
CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 28 0.044
356
c MNT248 Mental Retardation, X-Linked 102 22 0.044
357
MRB003 Morbid Obesity 59 0.044
358
CHR399 Chromosome 4q21 Deletion Syndrome 22 0.044
359
HLZ001 Holzgreve Syndrome 18 0.044
360
PST095 Post-Thrombotic Syndrome 48 0.044
361
MSC020 Mosaic Trisomy 8 29 0.044
362
P AMY004 Amyloidosis 63 0.044
363
SYD001 Sydenham's Chorea 37 0.044
364
GLC003 Glucose Intolerance 56 0.044
365
VNT011 Ventricular Fibrillation, Familial, 1 35 0.044
366
P DYS005 Dyslexia 38 0.044
367
CHR223 Chromosome 1q Deletion 14 0.044
368
c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 16 0.044
369
CHR568 Chromosome 6q24-Q25 Deletion Syndrome 21 0.044
370
CHR224 Chromosome 1q Duplication 21 0.044
371
c SHR030 Short Qt Syndrome 45 0.044
372
P CRN028 Corneal Ulcer 45 0.044
373
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 18 0.044
374
JBR005 Joubert Syndrome with Ocular Anomalies 31 0.044
375
ATR057 Atrioventricular Block 49 0.044
376
c FML249 Familial Amyloidosis, Finnish Type 25 0.044
377
JBR007 Joubert Syndrome with Renal Anomalies 26 0.044
378
SPR034 Superior Limbic Keratoconjunctivitis 29 0.044
379
OBS048 Obesity Bmiq11 32 0.044
380
P ATX004 Ataxia 53 0.044
381
ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 18 0.044
382
16Q001 16q24.3 Microdeletion Syndrome 22 0.044
383
49X002 49,xxxxy Syndrome 26 0.044
384
LGH004 Light Chain Deposition Disease 43 0.044
385
RGH001 Right Bundle Branch Block 43 0.044
386
P CRN026 Corneal Edema 39 0.044
387
CRN076 Crane-Heise Syndrome 16 0.044
388
MCR310 Microgastria-Limb Reduction Defects Association 16 0.044
389
CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 15 0.044
390
HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 17 0.044
391
ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 14 0.044
392
HRD005 Hard Palate Cancer 30 0.044
393
c SVR005 Severe Pre-Eclampsia 48 0.044
394
CRN264 Craniosynostosis with Fibular Aplasia 18 0.044
395
19P001 19p13.12 Microdeletion Syndrome 14 0.044
396
1Q4001 1q44 Microdeletion Syndrome 14 0.044
397
c FML191 Familial Long Qt Syndrome 39 0.044
398
ART008 Arteriosclerosis Obliterans 41 0.044
399
BRN007 Brain Oligodendroglioma 22 0.044
400
HRS011 Horseshoe Kidney 34 0.044
401
INF053 Infantile Spasms Broad Thumbs 11 0.044
402
KR001 Koro 26 0.044
403
PRX085 Preaxial Hallucal Polydactyly 18 0.044
404
ABS003 Absence of Septum Pellucidum 12 0.044
405
ACR015 Acrocephalosyndactylia 38 0.044
406
c INT059 Internal Hemorrhoid 34 0.044
407
P ACQ022 Acquired Generalized Lipodystrophy 28 0.044
408
SDD007 Sudden Cardiac Death 46 0.044
409
P CRN074 Coronary Artery Aneurysm 44 0.044
410
DST044 Distal Trisomy 14q 17 0.044
411
CNJ007 Conjunctivochalasis 38 0.044
412
PRS043 Prostate Rhabdomyosarcoma 30 0.044
413
MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 13 0.044
414
P SYN064 Syndromic X-Linked Intellectual Disability 18 0.044
415
SYN036 Syncope 45 0.044
416
AMN013 Aminopterin/methotrexate Embryofetopathy 13 0.044
417
MLT002 Multiple Symmetrical Lipomatosis 36 0.044
418
NNL002 Nonalcoholic Steatohepatitis 49 0.044
419
ISL075 Isolated Pierre Robin Sequence 12 0.044
420
TND004 Tendinopathy 40 0.044
421
14Q001 14q12 Microdeletion Syndrome 14 0.044
422
16P003 16p13.11 Microdeletion Syndrome 13 0.044
423
SYN057 Syndromic Intellectual Disability 23 0.044
424
OVR063 Overnutrition 49 0.044
425
ATS009 Autosomal Genetic Disease 38 0.044
426
LNR012 Linear Verrucous Nevus Syndrome 13 0.044
427
IDP041 Idiopathic Recurrent Pericarditis 29 0.044
428
MYC060 Mycophenolate Mofetil Embryopathy 14 0.044
429
LBR025 Lobar Holoprosencephaly 34 0.044
430
SPS002 Spastic Entropion 29 0.044
431
VNG001 Vangl1-Related Neural Tube Defect 11 0.044
432
c FML294 Familial Short Qt Syndrome 24 0.044
433
P ACQ009 Acquired Metabolic Disease 42 0.044
434
XLN092 X-Linked Neurodegenerative Syndrome, Bertini Type 9 0.044
435
c FML302 Familial Schizencephaly, Shh-Related 16 0.044
436
MDD015 Mid-Dermal Elastolysis 29 0.044
437
TND006 Tendinosis 37 0.044
438
P ANT006 Antiphospholipid Syndrome 60 0.043
439
ADN018 Adenoma 59 0.043
440
OBS004 Obstructive Hydrocephalus 33 0.043
441
WST001 West Syndrome 61 0.040
442
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 77 0.040
443
c NRF018 Neurofibromatosis, Type 1 69 0.040
444
P CNJ013 Conjunctivitis 65 0.040
445
MRS004 Marshall-Smith Syndrome 42 0.040
446
P AST007 Astrocytoma 66 0.040
447
P DBT005 Diabetes Insipidus 53 0.040
448
P HMR012 Hemorrhagic Fever 55 0.040
449
P HYP071 Hypersensitivity Reaction Type Ii Disease 46 0.040
450
c BCT007 Bacterial Meningitis 55 0.040
451
DMY004 Demyelinating Disease 52 0.040
452
NRT004 Neuritis 52 0.040
453
BRN071 Brain Injury 51 0.040
454
PRL026 Proliferative Vasculopathy and Hydraencephaly-Hydrocephaly Syndrome 28 0.036
455
P PRV002 Periventricular Nodular Heterotopia 46 0.036
456
P HMN010 Hemangioma 62 0.036
457
HMM003 Hemimegalencephaly 47 0.036
458
PRV004 Periventricular Leukomalacia 51 0.036
459
TMP001 Temporal Lobe Epilepsy 47 0.036
460
MTR010 Mature Teratoma 41 0.036
461
LKM006 Leukomalacia 41 0.036
462
P CLR023 Colorectal Cancer 96 0.031
463
PHN003 Phenylketonuria 71 0.031
464
P GLY010 Glycine Encephalopathy 53 0.031
465
P MCH002 Machado-Joseph Disease 63 0.031
466
P NRC002 Narcolepsy 62 0.031
467
c NMN015 Niemann-Pick Disease, Type C1 63 0.031
468
P VLC001 Velocardiofacial Syndrome 64 0.031
469
MSM014 Mismatch Repair Cancer Syndrome 60 0.031
470
CRB151 Cerebral Creatine Deficiency Syndrome 1 36 0.031
471
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 56 0.031
472
TRG002 Trigeminal Neuralgia 56 0.031
473
c TBR024 Tuberous Sclerosis-1 50 0.031
474
WLL001 Williams-Beuren Syndrome 61 0.031
475
P PTT014 Pitt-Hopkins Syndrome 51 0.031
476
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 56 0.031
477
P NJM001 Nijmegen Breakage Syndrome 68 0.031
478
NRL016 Neural Tube Defects 76 0.031
479
c ALB009 Albinism, Oculocutaneous, Type Ia 39 0.031
480
P KDN018 Kidney Disease 64 0.031
481
NSH001 Nasu-Hakola Disease 46 0.031
482
P CRD013 Cardiofaciocutaneous Syndrome 65 0.031
483
P NMN002 Niemann-Pick Disease 63 0.031
484
CHR103 Charge Syndrome 64 0.031
485
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 38 0.031
486
CDL003 Caudal Regression Syndrome 52 0.031
487
ANR002 Aniridia 62 0.031
488
TTR001 Tetralogy of Fallot 69 0.031
489
BSL036 Basal Cell Nevus Syndrome 65 0.031
490
PCK002 Pick Disease 66 0.031
491
P KLF001 Kleefstra Syndrome 41 0.031
492
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 31 0.031
493
CRB037 Cerebral Palsy 54 0.031
494
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 49 0.031
495
c MCR261 Microphthalmia, Syndromic 2 35 0.031
496
P PNC025 Panic Disorder 60 0.031
497
GLL032 Galloway-Mowat Syndrome 52 0.031
498
MBS002 Moebius Syndrome 44 0.031
499
c MCR252 Microphthalmia, Syndromic 5 27 0.031
500
P CRP007 Carpenter Syndrome 49 0.031
501
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 34 0.031
502
c PNT034 Pontocerebellar Hypoplasia, Type 2e 35 0.031
503
TRN022 Transcobalamin Ii Deficiency 49 0.031
504
MLT021 Multiple System Atrophy 71 0.031
505
MLL012 Miller Syndrome 43 0.031
506
PRL032 Perlman Syndrome 55 0.031
507
PLL001 Pallister-Hall Syndrome 56 0.031
508
OST022 Osteopathia Striata with Cranial Sclerosis 34 0.031
509
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 35 0.031
510
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 38 0.031
511
c JBR004 Joubert Syndrome 2 31 0.031
512
WLK001 Walker-Warburg Syndrome 55 0.031
513
P BPL003 Bipolar Disorder 58 0.031
514
CHL071 Child Syndrome 58 0.031
515
TRP006 Tarp Syndrome 33 0.031
516
NTR005 Nutritional Deficiency Disease 51 0.031
517
c L2H001 L-2-Hydroxyglutaric Aciduria 42 0.031
518
LCT005 Lacticacidemia Due to Pdx1 Deficiency 28 0.031
519
EPL143 Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions 27 0.031
520
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42 0.031
521
c OPT050 Opitz Gbbb Syndrome, Type Ii 33 0.031
522
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 32 0.031
523
c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 28 0.031
524
P ORF001 Orofaciodigital Syndrome 43 0.031
525
P CNG015 Congenital Diaphragmatic Hernia 58 0.031
526
CPT005 Cpt Ii Deficiency, Lethal Neonatal 25 0.031
527
P D2H001 D-2-Hydroxyglutaric Aciduria 45 0.031
528
c ACR088 Aicardi-Goutieres Syndrome 3 29 0.031
529
P MLT007 Multiple Epiphyseal Dysplasia 50 0.031
530
PRV007 Periventricular Heterotopia with Microcephaly 24 0.031
531
ACH001 Acheiropody 47 0.031
532
P MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 35 0.031
533
GLT011 Glutamine Deficiency, Congenital 23 0.031
534
HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 31 0.031
535
c LKD015 Leukodystrophy, Hypomyelinating, 3 25 0.031
536
CMB012 Combined Oxidative Phosphorylation Deficiency 1 27 0.031
537
HYP077 Hypertrichosis 52 0.031
538
CMB009 Combined Sap Deficiency 26 0.031
539
c RTT008 Rett Syndrome, Congenital Variant 25 0.031
540
P MSC005 Muscular Dystrophy 64 0.031
541
c SPN097 Spinocerebellar Ataxia 23 35 0.031
542
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 38 0.031
543
ART005 Arteriovenous Malformation 63 0.031
544
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 28 0.031
545
c CHR579 Chiari Malformation Type Ii 38 0.031
546
c TRC101 Trichothiodystrophy 4, Nonphotosensitive 27 0.031
547
P HLL001 Hallermann-Streiff Syndrome 53 0.031
548
DMN002 Dementia 62 0.031
549
c PNT020 Pontocerebellar Hypoplasia Type 2b 28 0.031
550
c CNG190 Congenital Disorder of Glycosylation, Type Iib 26 0.031
551
c PNT029 Pontocerebellar Hypoplasia Type 2d 32 0.031
552
KFM001 Kaufman Oculocerebrofacial Syndrome 32 0.031
553
c CNG389 Congenital Disorder of Glycosylation, Type Iim 25 0.031
554
OPT037 Optic Nerve Hypoplasia 50 0.031
555
c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 25 0.031
556
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 0.031
557
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27 0.031
558
c CNG201 Congenital Disorder of Glycosylation, Type Iij 26 0.031
559
ADR044 Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 36 0.031
560
NRG002 Neurogenic Bladder 47 0.031
561
P OPT048 Opitz-Gbbb Syndrome 39 0.031
562
MCR183 Microcephaly-Capillary Malformation Syndrome 28 0.031
563
MCR064 Microcephaly, Seizures, and Developmental Delay 29 0.031
564
P HRP006 Herpes Simplex 65 0.031
565
MLY006 Molybdenum Cofactor Deficiency a 28 0.031
566
APR001 Apraxia 50 0.031
567
c HLP009 Holoprosencephaly-9 25 0.031
568
LRY029 Laryngomalacia 40 0.031
569
ASP024 Asparagine Synthetase Deficiency 28 0.031
570
c ADM005 Adams-Oliver Syndrome 1 32 0.031
571
c MCR239 Microcephaly 5, Primary, Autosomal Recessive 29 0.031
572
STT041 Stuttering 48 0.031
573
CMB016 Combined Oxidative Phosphorylation Deficiency 5 21 0.031
574
MLY005 Molybdenum Cofactor Deficiency B 22 0.031
575
c SPS096 Spastic Paraplegia 44, Autosomal Recessive 25 0.031
576
c PNT014 Pontocerebellar Hypoplasia Type 5 27 0.031
577
3HY006 3-Hydroxyisobutryl-Coa Hydrolase Deficiency 23 0.031
578
P MYP006 Myopia 58 0.031
579
c ORF033 Orofaciodigital Syndrome V 23 0.031
580
CDS002 Codas Syndrome 38 0.031
581
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 29 0.031
582
C3D001 C3 Deficiency 50 0.031
583
IMP002 Imperforate Anus 54 0.031
584
KDS001 Kid Syndrome 53 0.031
585
EXF001 Exfoliation Syndrome 56 0.031
586
INF129 Infantile Cerebellar-Retinal Degeneration 33 0.031
587
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 24 0.031
588
c HLP014 Holoprosencephaly-2 26 0.031
589
c DGT005 Digital Arthropathy-Brachydactyly, Familial 36 0.031
590
EMN001 Emanuel Syndrome 38 0.031
591
c MCK017 Meckel Syndrome 4 27 0.031
592
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 25 0.031
593
P MNT143 Mental Retardation, Autosomal Dominant 13 22 0.031
594
CMB048 Combined Oxidative Phosphorylation Deficiency 15 20 0.031
595
c LSS010 Lissencephaly 4 32 0.031
596
LJN003 Lujan-Fryns Syndrome 28 0.031
597
c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 31 0.031
598
LYM009 Lymphocytic Choriomeningitis 49 0.031
599
MTC088 Mitochondrial Dna Depletion Syndrome 13 24 0.031
600
c SPS095 Spastic Paraplegia 47, Autosomal Recessive 25 0.031
601
P HYP024 Hypoparathyroidism 52 0.031
602
c HYD040 Hydrolethalus Syndrome 2 21 0.031
603
CMB046 Combined Oxidative Phosphorylation Deficiency 11 21 0.031
604
P LYM025 Lymphedema 60 0.031
605
PLY050 Polymicrogyria with Optic Nerve Hypoplasia 33 0.031
606
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 24 0.031
607
c HLP011 Holoprosencephaly-7 25 0.031
608
c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24 0.031
609
CHR225 Chromosome 1q21.1 Duplication Syndrome 21 0.031
610
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25 0.031
611
NRL004 Neuroleptic Malignant Syndrome 48 0.031
612
P ENC018 Encephalopathy 59 0.031
613
c SPS101 Spastic Paraplegia 56, Autosomal Recessive 26 0.031
614
c JBR031 Joubert Syndrome 21 23 0.031
615
c EPL028 Epileptic Encephalopathy, Early Infantile, 5 22 0.031
616
PRM056 Primrose Syndrome 32 0.031
617
MCR226 Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 25 0.031
618
IMM121 Immunodeficiency 26, with or Without Neurologic Abnormalities 22 0.031
619
FRS007 Frias Syndrome 25 0.031
620
c SPS103 Spastic Paraplegia 50, Autosomal Recessive 26 0.031
621
c PNT033 Pontocerebellar Hypoplasia, Type 10 24 0.031
622
c PRX059 Peroxisome Biogenesis Disorder 1a 27 0.031
623
c CRD167 Cardiofaciocutaneous Syndrome 4 23 0.031
624
c OPT051 Opitz Gbbb Syndrome, Type I 31 0.031
625
c BRT039 Baraitser-Winter Syndrome 2 21 0.031
626
c LKD016 Leukodystrophy, Hypomyelinating, 9 19 0.031
627
c HLP016 Holoprosencephaly 11 26 0.031
628
c SPS135 Spastic Paraplegia 63 22 0.031
629
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 28 0.031
630
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 17 0.031
631
END059 Endocrine-Cerebroosteodysplasia 24 0.031
632
EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 20 0.031
633
OBS015 Obesity, Hyperphagia, and Developmental Delay 35 0.031
634
CDS001 Cadasil 50 0.031
635
SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 27 0.031
636
VNM002 Van Maldergem Syndrome 2 19 0.031
637
c MCL013 Mucolipidosis Iv 44 0.031
638
c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 20 0.031
639
c MNT159 Mental Retardation, Autosomal Dominant 19 19 0.031
640
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 22 0.031
641
NLX003 Neu-Laxova Syndrome 2 19 0.031
642
LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 20 0.031
643
c MNT156 Mental Retardation, Autosomal Dominant 14 21 0.031
644
CHR366 Chromosome 5p13 Duplication Syndrome 24 0.031
645
P LPR002 Leopard Syndrome 53 0.031
646
c ORF036 Orofaciodigital Syndrome Xiv 21 0.031
647
c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 24 0.031
648
c MCK026 Meckel Syndrome 12 20 0.031
649
3PS001 3p- Syndrome 38 0.031
650
P WRB001 Warburg Micro Syndrome 33 0.031
651
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 18 0.031
652
c CRB101 Cerebrooculofacioskeletal Syndrome 1 35 0.031
653
CHR387 Chromosome Xp21 Deletion Syndrome 27 0.031
654
RFM001 Roifman Syndrome 24 0.031
655
APH002 Aphasia 52 0.031
656
c PLN017 Peeling Skin Syndrome 1 32 0.031
657
VNM003 Van Maldergem Syndrome 1 26 0.031
658
CHR390 Chromosome 14q11-Q22 Deletion Syndrome 30 0.031
659
P LNR015 Linear Skin Defects with Multiple Congenital Anomalies 26 0.031
660
DBR002 De Barsy Syndrome 26 0.031
661
MYL003 Myeloid Sarcoma 48 0.031
662
c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 19 0.031
663
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 16 0.031
664
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 24 0.031
665
SCH024 Schinzel Giedion Syndrome 24 0.031
666
RGH009 Right Atrial Isomerism 31 0.031
667
c EPL139 Epileptic Encephalopathy, Early Infantile, 28 20 0.031
668
DWR001 Dwarfism 42 0.031
669
P GND004 Gonadal Dysgenesis 51 0.031
670
WBB001 Webb-Dattani Syndrome 23 0.031
671
TLP001 Talipes Equinovarus 34 0.031
672
GBT001 Gaba-Transaminase Deficiency 28 0.031
673
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 17 0.031
674
c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 18 0.031
675
TRC040 Tracheoesophageal Fistula 41 0.031
676
OCL039 Oculoectodermal Syndrome 23 0.031
677
SRN002 Sirenomelia 26 0.031
678
c DKP001 Dk Phocomelia Syndrome 21 0.031
679
ATM052 Autoimmune Disease 1 26 0.031
680
CCN007 Cocoon Syndrome 32 0.031
681
BRK011 Brooks-Wisniewski-Brown Syndrome 18 0.031
682
KPR002 Kapur-Toriello Syndrome 19 0.031
683
CMB051 Combined Oxidative Phosphorylation Deficiency 21 20 0.031
684
P PLN008 Peeling Skin Syndrome 45 0.031
685
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 21 0.031
686
MTS001 Mutism 38 0.031
687
P CNG024 Congenital Nystagmus 39 0.031
688
ECH002 Echolalia 33 0.031
689
PLY104 Polymicrogyria with Seizures 18 0.031
690
c TRC103 Trichothiodystrophy 5, Nonphotosensitive 18 0.031
691
P ALP068 Alopecia-Intellectual Disability Syndrome 17 0.031
692
c FTL006 Fetal Alcohol Spectrum Disorder 42 0.031
693
c RNG018 Ring Chromosome 22 21 0.031
694
MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 15 0.031
695
DVL001 Developmental Coordination Disorder 36 0.031
696
PNT009 Pontine Tegmental Cap Dysplasia 24 0.031
697
BSL040 Basel-Vanagait-Smirin-Yosef Syndrome 15 0.031
698
NRM002 Normal Pressure Hydrocephalus 47 0.031
699
c MNT235 Mental Retardation, Autosomal Dominant 37 18 0.031
700
c PNT039 Pontocerebellar Hypoplasia, Type 7 19 0.031
701
PRT029 Parathyroid Adenoma 46 0.031
702
ANT019 Anterograde Amnesia 35 0.031
703
LWR016 Lowry-Maclean Syndrome 18 0.031
704
NSP002 Nasopharyngitis 39 0.031
705
SCH037 Schinzel-Giedion Midface Retraction Syndrome 21 0.031
706
SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 15 0.031
707
CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 16 0.031
708
HYP085 Hypothalamic Disease 43 0.031
709
c RNG022 Ring Chromosome 6 23 0.031
710
OPT009 Optic Neuritis 48 0.031
711
c CRN256 Craniosynostosis 6 23 0.031
712
c LKD020 Leukodystrophy, Hypomyelinating, 10 22 0.031
713
c LKD021 Leukodystrophy, Hypomyelinating, 11 17 0.031
714
P RTN016 Retinal Degeneration 50 0.031
715
FRN002 Frontal Lobe Epilepsy 38 0.031
716
c SPS123 Spastic Paraplegia 32, Autosomal Recessive 18 0.031
717
P MTC004 Mitochondrial Encephalomyopathy 39 0.031
718
LVY002 Levy-Shanske Syndrome 20 0.031
719
MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 14 0.031
720
P FTL001 Fetal Alcohol Syndrome 53 0.031
721
LKN007 Leukonychia Totalis 21 0.031
722
LPM005 Lipomatosis 46 0.031
723
PHC004 Phace Syndrome 22 0.031
724
HYP231 Hypothalamic Hamartomas 35 0.031
725
BFD001 Bifid Nose 20 0.031
726
HMN009 Hemangioblastoma 45 0.031
727
HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 15 0.031
728
ORB007 Orbital Cyst 30 0.031
729
PYL006 Pyloric Stenosis 46 0.031
730
P HYP009 Hypertrophic Pyloric Stenosis 40 0.031
731
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 13 0.031
732
CRN025 Corneal Dystrophy 40 0.031
733
c CLR115 Ciliary Dyskinesia, Primary, 31 16 0.031
734
P CRT033 Corticobasal Degeneration 44 0.031
735
CHR596 Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included 17 0.031
736
P LSS024 Lissencephaly with Cerebellar Hypoplasia 36 0.031
737
TBR011 Tuberculous Meningitis 46 0.031
738
P CNG390 Congenital Pulmonary Airway Malformation 41 0.031
739
CRB164 Cerebrooculonasal Syndrome 15 0.031
740
HDZ001 Hadziselimovic Syndrome 12 0.031
741
INT054 Intraocular Lymphoma 46 0.031
742
MNT256 Mental Retardation, Buenos Aires Type 15 0.031
743
MNN022 Meningoencephalocele 21 0.031
744
TRS012 Trisomy 22 26 0.031
745
LSS034 Lissencephaly Type Iii and Bone Dysplasia 12 0.031
746
SCH011 Schizotypal Personality Disorder 32 0.031
747
TYS007 Tyshchenko Syndrome 12 0.031
748
WDS002 Woods Syndrome 30 0.031
749
SKT001 Sakati Syndrome 19 0.031
750
CRB001 Cerebral Lymphoma 34 0.031
751
BWN002 Bowen Syndrome 22 0.031
752
c LKD023 Leukodystrophy, Hypomyelinating, 12 11 0.031
753
OCC011 Occipital Encephalocele 24 0.031
754
CCN001 Cocaine Dependence 47 0.031
755
P ENC011 Encephalomyopathy 35 0.031
756
PST086 Posterior Cortical Atrophy 33 0.031
757
P MNN018 Mannosidosis 40 0.031
758
MNN032 Meningococcal Meningitis 33 0.031
759
KLF003 Kleefstra Syndrome Due to 9q34 Microdeletion 15 0.031
760
SGT001 Sagittal Sinus Thrombosis 32 0.031
761
DPL009 Duplication of the Pituitary Gland 16 0.031
762
FTL010 Fetal Akinesia Syndrome X-Linked 9 0.031
763
c BPL002 Bipolar I Disorder 45 0.031
764
SWY001 Swayback 29 0.031
765
SYN005 Synostosis 44 0.031
766
ANT007 Anterior Horn Cell Disease 29 0.031
767
RTN023 Retinitis 49 0.031
768
DFN300 Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 13 0.031
769
CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 28 0.031
770
c CNG439 Congenital Lymphedema 24 0.031
771
8PN001 8p Inverted Duplication/deletion Syndrome 12 0.031
772
EPG004 Epignathus 17 0.031
773
CNG067 Congenital Cystic Eye 11 0.031
774
CRB004 Cerebral Artery Occlusion 39 0.031
775
LKN004 Leukoencephalopathy Palmoplantar Keratoderma 9 0.031
776
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 12 0.031
777
INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 12 0.031
778
MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 11 0.031
779
P MNS011 Monosomy 9q22.3 15 0.031
780
c MTR057 Maternal Uniparental Disomy of Chromosome X 11 0.031
781
SPS007 Spastic Cerebral Palsy 42 0.031
782
SPT016 Septopreoptic Holoprosencephaly 30 0.031
783
WBR001 Weber Syndrome 36 0.031
784
XQ1001 Xq12-Q13.3 Duplication Syndrome 9 0.031
785
P AXN001 Axonal Neuropathy 37 0.031
786
6QT002 6q Terminal Deletion Syndrome 15 0.031
787
INH016 Inherited Isolated Adrenal Insufficiency Due to Cyp11a1 Deficiency 12 0.031
788
MTH047 Methanol Poisoning 29 0.031
789
FML160 Familial Spastic Paralysis 7 0.031
790
c CNG100 Congenital Herpes Simplex 18 0.031
791
MSL004 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis 14 0.031
792
c HRD169 Hereditary Colorectal Cancer 42 0.031