Search results for "corpus callosum"

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

787 hits were found for 'corpus callosum'

# Family MCID Name MIFTS Score
1
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 29 9.695
2
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 24 6.609
3
VCS001 Vici Syndrome 44 5.544
4
CRP010 Corpus Callosum Agenesis 40 5.295
5
PRD011 Proud Syndrome 42 5.243
6
CRP025 Corpus Callosum, Partial Agenesis of 24 4.883
7
MSS001 Masa Syndrome 49 4.538
8
TMT003 Temtamy Syndrome 26 4.146
9
c SPS092 Spastic Paraplegia 11 24 4.083
10
CHD004 Chudley-Mccullough Syndrome 34 3.772
11
ACR012 Aicardi Syndrome 45 3.748
12
CRP003 Corpus Callosum Lipoma 18 3.748
13
CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 19 3.722
14
CRP011 Corpus Callosum Agenesis Double Urinary Collecting 12 3.715
15
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 29 3.691
16
XLN218 X-Linked Complicated Corpus Callosum Agenesis 4 3.680
17
WHT018 White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome 11 3.251
18
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 14 3.241
19
XLN149 X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis 8 3.231
20
ACR008 Acrocallosal Syndrome 51 2.734
21
DNN002 Donnai-Barrow Syndrome 34 2.718
22
MCR061 Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 9 2.662
23
SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 9 2.638
24
CRN265 Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development 34 2.625
25
CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 19 2.625
26
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 26 2.610
27
CMB013 Combined Oxidative Phosphorylation Deficiency 2 20 2.610
28
SPS189 Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome 6 2.610
29
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 33 2.594
30
P FCL005 Focal Segmental Glomerulosclerosis 59 2.574
31
XLN107 X-Linked Lissencephaly with Abnormal Genitalia 21 2.574
32
SHP003 Shapiro Syndrome 25 1.933
33
ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 14 1.910
34
c LSS012 Lissencephaly, X-Linked 2 24 1.897
35
CRP024 Corpus Callosum Oligodendroglioma 6 1.897
36
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 6 1.882
37
CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 5 1.882
38
BND006 Bone Dysplasia Corpus Callosum Agenesis 3 1.882
39
STR027 Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 2 1.882
40
FCL018 Facial Clefting Corpus Callosum Agenesis 2 1.882
41
PLY047 Polysyndactyly Trigonocephaly Agenesis of Corpus Callosum 2 1.882
42
HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 2 1.882
43
CRP012 Corpus Callosum Agenesis of Blepharophimosis Robin Type 2 1.875
44
CRP013 Corpus Callosum Dysgenesis Cleft Spasm 2 1.875
45
CRP014 Corpus Callosum Dysgenesis Hypopituitarism 2 1.875
46
CRP015 Corpus Callosum Dysgenesis X-Linked Recessive 2 1.875
47
c MCR217 Microphthalmia, Syndromic 11 21 1.865
48
c MNT213 Mental Retardation, Autosomal Recessive 40 20 1.865
49
THR039 Thrombocytopenia Robin Sequence 13 1.865
50
MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 7 1.865
51
PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 5 1.865
52
SPG001 Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum 3 1.865
53
SVR091 Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome 3 1.865
54
P LSS027 Lissencephaly, X-Linked 42 1.846
55
c MNT245 Mental Retardation, Autosomal Dominant 36 17 1.846
56
BNR003 Ben Ari Shuper Mimouni Syndrome 4 1.846
57
PLR009 Pol Iii-Related Leukodystrophies 37 1.820
58
CLL019 Calloso-Genital Dysplasia 5 1.820
59
SKD001 Sakoda Complex 4 1.820
60
DKR001 Duker Weiss Siber Syndrome 3 1.820
61
KZL003 Kozlowski Ouvrier Syndrome 3 1.820
62
SLB001 Saal Bulas Syndrome 3 1.820
63
SPS057 Spasticity 42 0.263
64
PRP016 Paraplegia 49 0.226
65
c HRD010 Hereditary Spastic Paraplegia 65 0.208
66
P MCR010 Microcephaly 58 0.161
67
LPM004 Lipoma 58 0.143
68
P INT063 Intellectual Disability 53 0.120
69
P EPL164 Epilepsy 66 0.116
70
PLY024 Polymicrogyria 36 0.112
71
MRC001 Marchiafava Bignami Disease 50 0.103
72
P LSS002 Lissencephaly 49 0.103
73
P HYD006 Hydrocephalus 67 0.102
74
NRN002 Neuronitis 42 0.095
75
P NRP001 Neuropathy 60 0.094
76
CRB009 Cerebritis 38 0.093
77
END072 Endotheliitis 42 0.092
78
P TRC086 Trichohepatoenteric Syndrome 1 46 0.090
79
P SCH018 Schizencephaly 51 0.088
80
CLF001 Cleft Lip 49 0.088
81
P MWT001 Mowat-Wilson Syndrome 46 0.088
82
DND001 Dandy-Walker Syndrome 44 0.088
83
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.088
84
SPS019 Spastic Paraparesis 34 0.088
85
CLP002 Colpocephaly 15 0.088
86
P SCH015 Schizophrenia 76 0.084
87
P ENC008 Encephalocele 47 0.084
88
P HLP001 Holoprosencephaly 62 0.082
89
LNN001 Lennox-Gastaut Syndrome 54 0.079
90
ACR041 Acromelic Frontonasal Dysostosis 46 0.076
91
OCL034 Oculocerebrocutaneous Syndrome 28 0.076
92
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.072
93
ARC007 Arachnoid Cysts 38 0.072
94
ARC002 Arachnoiditis 38 0.072
95
ALR002 Al-Raqad Syndrome 36 0.072
96
MGL013 Megalencephaly 51 0.069
97
P CFF001 Coffin-Siris Syndrome 50 0.069
98
P WRB002 Warburg Micro Syndrome 1 37 0.069
99
P FRN036 Frontonasal Dysplasia 1 31 0.069
100
P MNN013 Meningitis 65 0.065
101
SMT004 Smith-Lemli-Opitz Syndrome 67 0.062
102
OBS002 Obsessive-Compulsive Disorder 66 0.062
103
c JBR020 Joubert Syndrome 1 59 0.062
104
MCR013 Microphthalmia 59 0.062
105
P CTR002 Cataract 57 0.062
106
CFF002 Coffin-Lowry Syndrome 55 0.062
107
P PLY006 Polydactyly 55 0.062
108
P LTR001 Lateral Sclerosis 52 0.062
109
GRG001 Greig Cephalopolysyndactyly Syndrome 52 0.062
110
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 49 0.062
111
CRB045 Cerebellar Hypoplasia 48 0.062
112
ALB002 Albinism 43 0.062
113
BRT030 Birth Defects 43 0.062
114
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 42 0.062
115
CHR078 Chorioretinitis 41 0.062
116
CHR222 Chromosome 1p36 Deletion Syndrome 41 0.062
117
GNT031 Genitopatellar Syndrome 39 0.062
118
PCH002 Pachygyria 36 0.062
119
FRY002 Fryns Syndrome 36 0.062
120
BHR002 Bohring-Opitz Syndrome 36 0.062
121
NLX002 Neu-Laxova Syndrome1 34 0.062
122
SPT006 Septooptic Dysplasia 34 0.062
123
OPT054 Opitz-Kaveggia Syndrome 32 0.062
124
DSM002 Desmosterolosis 32 0.062
125
P MCR241 Microphthalmia, Syndromic 3 32 0.062
126
CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 29 0.062
127
c MNT158 Mental Retardation, Autosomal Dominant 22 22 0.062
128
c FRN037 Frontal Encephalocele 20 0.062
129
LSS026 Lissencephaly 6, with Microcephaly 18 0.062
130
CRN266 Craniofacial Dyssynostosis with Short Stature 15 0.062
131
FCL009 Focal Dermal Hypoplasia 54 0.057
132
CHL078 Childhood-Onset Schizophrenia 33 0.057
133
SRC014 Sarcoma 66 0.056
134
APR006 Apert Syndrome 66 0.054
135
PTR006 Peters Anomaly 64 0.054
136
P NRM001 Neuromyelitis Optica 59 0.054
137
HMF006 Hemifacial Microsomia 54 0.054
138
AGN012 Agnathia-Otocephaly Complex 54 0.054
139
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53 0.054
140
P ATX004 Ataxia 53 0.054
141
P MCK022 Meckel Syndrome 1 53 0.054
142
SNG010 Single Median Maxillary Central Incisor 53 0.054
143
QDR001 Quadriplegia 52 0.054
144
P MGR003 Migraine with Aura 51 0.054
145
P SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 48 0.054
146
P MRD002 Marden-Walker Syndrome 46 0.054
147
CLF004 Cleft Lip/palate 46 0.054
148
SKN023 Skin Tag 46 0.054
149
c ORF037 Orofaciodigital Syndrome I 46 0.054
150
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 45 0.054
151
CRN248 Craniofrontonasal Dysplasia 45 0.054
152
MLL018 Miller-Dieker Lissencephaly Syndrome 45 0.054
153
ENT001 Enterocele 41 0.054
154
c CNG031 Congenital Nervous System Abnormality 39 0.054
155
BLP004 Blepharophimosis 39 0.054
156
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 38 0.054
157
FMR004 Fumarase Deficiency 38 0.054
158
TTR016 Tetra-Amelia Syndrome 36 0.054
159
CHR492 Chromosome 13q14 Deletion Syndrome 34 0.054
160
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 34 0.054
161
ENC010 Encephalocraniocutaneous Lipomatosis 34 0.054
162
PTC002 Potocki-Lupski Syndrome 31 0.054
163
HRT030 Hartsfield Syndrome 30 0.054
164
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 29 0.054
165
c MCR251 Microphthalmia, Syndromic 6 28 0.054
166
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 28 0.054
167
c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 28 0.054
168
GLD002 Goldberg-Shprintzen Megacolon Syndrome 27 0.054
169
FCL064 Facial Dysmorphism with Multiple Malformations 26 0.054
170
MCR257 Microcephaly, Amish Type 26 0.054
171
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 25 0.054
172
c FRN033 Frontonasal Dysplasia 2 25 0.054
173
c EPL102 Epileptic Encephalopathy, Early Infantile, 18 25 0.054
174
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 25 0.054
175
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 25 0.054
176
c LSS009 Lissencephaly 3 24 0.054
177
c EPL119 Epileptic Encephalopathy, Early Infantile, 17 23 0.054
178
PSD046 Pseudotrisomy 13 Syndrome 23 0.054
179
c PNT030 Pontocerebellar Hypoplasia, Type 8 23 0.054
180
c PNT032 Pontocerebellar Hypoplasia, Type 9 22 0.054
181
CHR383 Chromosome 1p32-P31 Deletion Syndrome 21 0.054
182
c PNT035 Pontocerebellar Hypoplasia, Type 1c 20 0.054
183
CRN104 Craniotelencephalic Dysplasia 18 0.054
184
CHR483 Chromosome 3q13.31 Deletion Syndrome 17 0.054
185
AGN009 Agenesis and Aplasia of Uterine Body 9 0.054
186
P OLG002 Oligodendroglioma 55 0.051
187
P TRT010 Teratoma 52 0.049
188
ACR007 Acromegaly 65 0.048
189
TBR024 Tuberous Sclerosis-1 65 0.048
190
STT001 Status Epilepticus 59 0.048
191
CYT008 Cytomegalovirus Infection 51 0.048
192
CRT015 Carotid Artery Occlusion 43 0.048
193
NRN016 Neuronal Migration Disorders 42 0.048
194
WLL004 Wallerian Degeneration 35 0.048
195
AND005 Androgen Insensitivity Syndrome, Mild 16 0.048
196
P LYM118 Lymphoma 70 0.046
197
P THY032 Thyroiditis 54 0.046
198
P NRV007 Nervous System Disease 71 0.044
199
P HYP086 Hypothyroidism 65 0.044
200
P RBN001 Rubinstein-Taybi Syndrome 65 0.044
201
P ALX003 Alexander Disease 64 0.044
202
P THR014 Thrombocytopenia 64 0.044
203
P OST001 Osteopetrosis 62 0.044
204
GST092 Gastroesophageal Reflux 61 0.044
205
P PRS038 Personality Disorder 61 0.044
206
ADR016 Adrenal Cortical Carcinoma 61 0.044
207
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 60 0.044
208
CHL071 Child Syndrome 58 0.044
209
CND002 Conduct Disorder 56 0.044
210
CHN016 Cohen Syndrome 55 0.044
211
P TRM003 Tremor 54 0.044
212
P EXP004 Exophthalmos 54 0.044
213
CCH002 Coach Syndrome 54 0.044
214
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 53 0.044
215
P SPS003 Spastic Diplegia 53 0.044
216
KDS001 Kid Syndrome 53 0.044
217
TWN003 Townes-Brocks Syndrome 53 0.044
218
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 52 0.044
219
PHL006 Phelan-Mcdermid Syndrome 51 0.044
220
SMT008 Smith-Magenis Syndrome 51 0.044
221
BLL001 Baller-Gerold Syndrome 51 0.044
222
HPT074 Hepatic Adenoma, Somatic 51 0.044
223
MYL020 Myelomeningocele 50 0.044
224
CSY001 C Syndrome 49 0.044
225
DBF001 D-Bifunctional Protein Deficiency 49 0.044
226
P LFT003 Left Ventricular Noncompaction 49 0.044
227
JCB001 Jacobsen Syndrome 48 0.044
228
c ORF040 Orofaciodigital Syndrome Viii 48 0.044
229
P STS008 Sotos Syndrome 1 47 0.044
230
ECT006 Ectodermal Dysplasia 47 0.044
231
DBW001 Dubowitz Syndrome 46 0.044
232
KRT008 Keratopathy 46 0.044
233
P HYD011 Hydrolethalus Syndrome 45 0.044
234
WLF002 Wolf-Hirschhorn Syndrome 45 0.044
235
HDN002 Head Injury 45 0.044
236
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 44 0.044
237
BHR001 Behr Syndrome 44 0.044
238
DXT001 Dextrocardia 44 0.044
239
MST006 Mast Syndrome 43 0.044
240
OCL001 Ocular Albinism 43 0.044
241
P MSC022 Mosaic Variegated Aneuploidy Syndrome 42 0.044
242
P OPT050 Opitz Gbbb Syndrome, Type Ii 42 0.044
243
TRP014 Triploidy 40 0.044
244
P HYP265 Hypotonia 39 0.044
245
P DYS005 Dyslexia 39 0.044
246
TRN012 Transient Global Amnesia 39 0.044
247
c LSS005 Lissencephaly 1 39 0.044
248
JBR006 Joubert Syndrome with Oculorenal Anomalies 39 0.044
249
P ORF002 Orofacial Cleft 38 0.044
250
SPS004 Spastic Quadriplegia 38 0.044
251
P KLN006 Koolen-De Vries Syndrome 37 0.044
252
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 36 0.044
253
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 36 0.044
254
HRS011 Horseshoe Kidney 35 0.044
255
CNG069 Congenital Cytomegalovirus 34 0.044
256
c MCR263 Microphthalmia, Syndromic 1 34 0.044
257
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 34 0.044
258
c BRT038 Baraitser-Winter Syndrome 1 34 0.044
259
LBR025 Lobar Holoprosencephaly 33 0.044
260
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 33 0.044
261
MCR025 Microhydranencephaly 33 0.044
262
YNS002 Yunis-Varon Syndrome 32 0.044
263
JBR005 Joubert Syndrome with Ocular Anomalies 32 0.044
264
CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32 0.044
265
LRN006 Laurin-Sandrow Syndrome 31 0.044
266
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 30 0.044
267
SDD003 Saddan 30 0.044
268
INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 29 0.044
269
STR046 Stargardt Macular Degeneration 29 0.044
270
c PNT037 Pontocerebellar Hypoplasia, Type 3 28 0.044
271
JBR007 Joubert Syndrome with Renal Anomalies 27 0.044
272
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.044
273
FMR018 Femoral-Facial Syndrome 27 0.044
274
MSC020 Mosaic Trisomy 8 27 0.044
275
MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 27 0.044
276
BND001 Band Keratopathy 26 0.044
277
CHR518 Chromosome 9p Deletion Syndrome 26 0.044
278
CMB026 Combined Oxidative Phosphorylation Deficiency 12 25 0.044
279
KR001 Koro 25 0.044
280
c APL023 Aplasia Cutis Congenita, Nonsyndromic 25 0.044
281
c SPS114 Spastic Paraplegia 45, Autosomal Recessive 25 0.044
282
HNM002 Hinman Syndrome 25 0.044
283
49X002 49,xxxxy Syndrome 24 0.044
284
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 24 0.044
285
P SYN064 Syndromic X-Linked Intellectual Disability 24 0.044
286
FRN022 Frontofacionasal Dysplasia 24 0.044
287
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 24 0.044
288
c FBR049 Fibrosis of Extraocular Muscles, Congenital, 3a 24 0.044
289
c MNT198 Mental Retardation, X-Linked 98 22 0.044
290
c MNT248 Mental Retardation, X-Linked 102 22 0.044
291
PLY102 Polymicrogyria, Symmetric or Asymmetric 22 0.044
292
PLY110 Polymicrogyria, Bilateral Temporooccipital 22 0.044
293
CHR399 Chromosome 4q21 Deletion Syndrome 22 0.044
294
MNT014 Mental Retardation Epilepsy 22 0.044
295
BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 21 0.044
296
CHR487 Chromosome 8q21.11 Deletion Syndrome 21 0.044
297
CHR568 Chromosome 6q24-Q25 Deletion Syndrome 21 0.044
298
c WRB003 Warburg Micro Syndrome 2 20 0.044
299
P CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 20 0.044
300
c WRB004 Warburg Micro Syndrome 3 20 0.044
301
16Q001 16q24.3 Microdeletion Syndrome 19 0.044
302
CHR224 Chromosome 1q Duplication 19 0.044
303
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 18 0.044
304
HLZ001 Holzgreve Syndrome 18 0.044
305
3HY009 3-@hydroxyisobutyric Aciduria 18 0.044
306
EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 18 0.044
307
c WRB005 Warburg Micro Syndrome 4 18 0.044
308
PRX085 Preaxial Hallucal Polydactyly 18 0.044
309
c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 18 0.044
310
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 17 0.044
311
CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 17 0.044
312
CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 17 0.044
313
ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 17 0.044
314
GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 17 0.044
315
XGB001 Xia-Gibbs Syndrome 16 0.044
316
DST044 Distal Trisomy 14q 16 0.044
317
HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 16 0.044
318
MCR310 Microgastria-Limb Reduction Defects Association 16 0.044
319
CRN076 Crane-Heise Syndrome 16 0.044
320
CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 15 0.044
321
MYC060 Mycophenolate Mofetil Embryopathy 14 0.044
322
FXG001 Foxg1 Syndrome 14 0.044
323
14Q001 14q12 Microdeletion Syndrome 13 0.044
324
ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 13 0.044
325
1Q4001 1q44 Microdeletion Syndrome 13 0.044
326
19P001 19p13.12 Microdeletion Syndrome 13 0.044
327
AMN013 Aminopterin/methotrexate Embryofetopathy 13 0.044
328
MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 13 0.044
329
LSS034 Lissencephaly Type Iii and Bone Dysplasia 12 0.044
330
LNR012 Linear Verrucous Nevus Syndrome 12 0.044
331
16P003 16p13.11 Microdeletion Syndrome 12 0.044
332
ABS003 Absence of Septum Pellucidum 12 0.044
333
INF053 Infantile Spasms Broad Thumbs 11 0.044
334
XLN092 X-Linked Neurodegenerative Syndrome, Bertini Type 9 0.044
335
MCR275 Microcephaly with Polymicrogyria 7 0.044
336
P ENC004 Encephalitis 61 0.043
337
ADN018 Adenoma 59 0.043
338
P AST007 Astrocytoma 65 0.040
339
WST001 West Syndrome 61 0.040
340
P ANT006 Antiphospholipid Syndrome 58 0.040
341
HMM003 Hemimegalencephaly 45 0.040
342
OBS004 Obstructive Hydrocephalus 35 0.040
343
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 76 0.036
344
P ART022 Arthritis 75 0.036
345
c NRF018 Neurofibromatosis, Type 1 68 0.036
346
P GLB002 Glioblastoma 66 0.036
347
P CNJ013 Conjunctivitis 65 0.036
348
P ANR007 Anorexia Nervosa 63 0.036
349
GLB015 Glioblastoma Multiforme 62 0.036
350
P HMN010 Hemangioma 60 0.036
351
P ENC018 Encephalopathy 59 0.036
352
ART021 Arteriosclerosis 59 0.036
353
HPY002 H. Pylori Infection 58 0.036
354
PLY023 Polycystic Liver Disease 57 0.036
355
DMY004 Demyelinating Disease 55 0.036
356
P HMR012 Hemorrhagic Fever 55 0.036
357
c BCT007 Bacterial Meningitis 54 0.036
358
P EPD009 Epidermolysis Bullosa Dystrophica 54 0.036
359
P PRP019 Peripheral Nervous System Disease 54 0.036
360
P DBT005 Diabetes Insipidus 53 0.036
361
P HYP083 Hypopituitarism 52 0.036
362
BRN071 Brain Injury 52 0.036
363
NRT004 Neuritis 52 0.036
364
TMP001 Temporal Lobe Epilepsy 51 0.036
365
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.036
366
PRV004 Periventricular Leukomalacia 48 0.036
367
P GLM040 Glioma Susceptibility 1 48 0.036
368
BNN003 Bone Inflammation Disease 46 0.036
369
HMN009 Hemangioblastoma 45 0.036
370
HYP085 Hypothalamic Disease 44 0.036
371
VNT011 Ventricular Fibrillation, Familial, 1 43 0.036
372
LKM006 Leukomalacia 42 0.036
373
MTR010 Mature Teratoma 42 0.036
374
MRS004 Marshall-Smith Syndrome 41 0.036
375
ADL053 Adult Astrocytic Tumour 37 0.036
376
P CHR342 Chiari Malformation 37 0.036
377
MLD002 Mild Pre-Eclampsia 34 0.036
378
PRL026 Proliferative Vasculopathy and Hydraencephaly-Hydrocephaly Syndrome 26 0.036
379
P CLR023 Colorectal Cancer 97 0.031
380
P OST012 Osteoarthritis 82 0.031
381
P HNT016 Huntington Disease 80 0.031
382
NRL016 Neural Tube Defects 76 0.031
383
PHN003 Phenylketonuria 73 0.031
384
MLT021 Multiple System Atrophy 71 0.031
385
TTR001 Tetralogy of Fallot 71 0.031
386
PCK002 Pick Disease 67 0.031
387
c LNG044 Long Qt Syndrome 1 67 0.031
388
VSC007 Vascular Disease 67 0.031
389
P NJM001 Nijmegen Breakage Syndrome 66 0.031
390
P HRP006 Herpes Simplex 65 0.031
391
BSL036 Basal Cell Nevus Syndrome 65 0.031
392
ART005 Arteriovenous Malformation 65 0.031
393
P ATR011 Atrial Fibrillation 64 0.031
394
P MSC005 Muscular Dystrophy 64 0.031
395
DMN002 Dementia 64 0.031
396
CHR103 Charge Syndrome 64 0.031
397
P CRB042 Cerebellar Ataxia 64 0.031
398
c NMN015 Niemann-Pick Disease, Type C1 64 0.031
399
P CRD013 Cardiofaciocutaneous Syndrome 63 0.031
400
P MCL013 Mucolipidosis Iv 63 0.031
401
P NMN002 Niemann-Pick Disease 63 0.031
402
P NRC002 Narcolepsy 62 0.031
403
P MCH002 Machado-Joseph Disease 62 0.031
404
P VLC001 Velocardiofacial Syndrome 62 0.031
405
P BPL003 Bipolar Disorder 62 0.031
406
P SDD001 Sudden Infant Death Syndrome 61 0.031
407
P LYM025 Lymphedema 61 0.031
408
WLL001 Williams-Beuren Syndrome 61 0.031
409
ANR002 Aniridia 60 0.031
410
P PNC025 Panic Disorder 60 0.031
411
MSM014 Mismatch Repair Cancer Syndrome 59 0.031
412
P MYP006 Myopia 59 0.031
413
P BRG001 Brugada Syndrome 59 0.031
414
c FML001 Familial Atrial Fibrillation 59 0.031
415
P CNG015 Congenital Diaphragmatic Hernia 58 0.031
416
MRB003 Morbid Obesity 58 0.031
417
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 58 0.031
418
P AND016 Andersen Syndrome 58 0.031
419
EXF001 Exfoliation Syndrome 57 0.031
420
ACN002 Acanthosis Nigricans 57 0.031
421
SNS001 Sensorineural Hearing Loss 57 0.031
422
TRG002 Trigeminal Neuralgia 56 0.031
423
P SCL018 Scoliosis 56 0.031
424
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 56 0.031
425
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.031
426
P TMT001 Timothy Syndrome 56 0.031
427
GST033 Gestational Diabetes 56 0.031
428
P PTS002 Ptosis 56 0.031
429
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.031
430
PRL032 Perlman Syndrome 55 0.031
431
GLC003 Glucose Intolerance 55 0.031
432
CRB037 Cerebral Palsy 54 0.031
433
PLL001 Pallister-Hall Syndrome 54 0.031
434
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 54 0.031
435
P PLY019 Polyneuropathy 54 0.031
436
P RTN016 Retinal Degeneration 54 0.031
437
ADR044 Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 53 0.031
438
APH002 Aphasia 53 0.031
439
NNL002 Nonalcoholic Steatohepatitis 53 0.031
440
P FTL001 Fetal Alcohol Syndrome 53 0.031
441
P GND004 Gonadal Dysgenesis 53 0.031
442
P HLL001 Hallermann-Streiff Syndrome 53 0.031
443
c PRX059 Peroxisome Biogenesis Disorder 1a 52 0.031
444
P JRV003 Jervell and Lange-Nielsen Syndrome 52 0.031
445
P GLY010 Glycine Encephalopathy 52 0.031
446
IMP002 Imperforate Anus 52 0.031
447
OPT037 Optic Nerve Hypoplasia 52 0.031
448
HYP077 Hypertrichosis 52 0.031
449
P HYP024 Hypoparathyroidism 52 0.031
450
P MLT007 Multiple Epiphyseal Dysplasia 51 0.031
451
P PTT014 Pitt-Hopkins Syndrome 51 0.031
452
CDL003 Caudal Regression Syndrome 51 0.031
453
c VRL012 Viral Meningitis 50 0.031
454
GLL032 Galloway-Mowat Syndrome 50 0.031
455
NRG002 Neurogenic Bladder 50 0.031
456
CDS001 Cadasil 50 0.031
457
SPN019 Spondylolisthesis 50 0.031
458
NRM002 Normal Pressure Hydrocephalus 50 0.031
459
OVR063 Overnutrition 49 0.031
460
P HYP370 Hypokalemic Periodic Paralysis, Type 1 49 0.031
461
ATR057 Atrioventricular Block 49 0.031
462
MLL012 Miller Syndrome 49 0.031
463
P CRP007 Carpenter Syndrome 49 0.031
464
RTN023 Retinitis 49 0.031
465
URB001 Urbach-Wiethe Disease 48 0.031
466
STT041 Stuttering 48 0.031
467
APR001 Apraxia 48 0.031
468
c SVR005 Severe Pre-Eclampsia 48 0.031
469
MYL003 Myeloid Sarcoma 48 0.031
470
CCN001 Cocaine Dependence 48 0.031
471
OPT009 Optic Neuritis 48 0.031
472
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 47 0.031
473
SYN036 Syncope 47 0.031
474
PRT029 Parathyroid Adenoma 47 0.031
475
c BPL002 Bipolar I Disorder 47 0.031
476
LPM005 Lipomatosis 47 0.031
477
P PLN008 Peeling Skin Syndrome 47 0.031
478
CRB151 Cerebral Creatine Deficiency Syndrome 1 46 0.031
479
P CRT033 Corticobasal Degeneration 46 0.031
480
TBR011 Tuberculous Meningitis 46 0.031
481
OBS015 Obesity, Hyperphagia, and Developmental Delay 46 0.031
482
SDD007 Sudden Cardiac Death 46 0.031
483
TRN022 Transcobalamin Ii Deficiency 46 0.031
484
SRS007 Sorsby Fundus Dystrophy 46 0.031
485
DWR001 Dwarfism 46 0.031
486
OPS006 Opsoclonus-Myoclonus Syndrome 46 0.031
487
CRB004 Cerebral Artery Occlusion 46 0.031
488
PYL006 Pyloric Stenosis 46 0.031
489
INT054 Intraocular Lymphoma 45 0.031
490
SYN005 Synostosis 45 0.031
491
ACH001 Acheiropody 45 0.031
492
NRL004 Neuroleptic Malignant Syndrome 45 0.031
493
SPS007 Spastic Cerebral Palsy 45 0.031
494
CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 45 0.031
495
NSH001 Nasu-Hakola Disease 45 0.031
496
P D2H001 D-2-Hydroxyglutaric Aciduria 44 0.031
497
MBS002 Moebius Syndrome 44 0.031
498
P CRN074 Coronary Artery Aneurysm 44 0.031
499
P ORF001 Orofaciodigital Syndrome 44 0.031
500
c CHR431 Chronic Venous Insufficiency 44 0.031
501
RGH001 Right Bundle Branch Block 43 0.031
502
c SHR030 Short Qt Syndrome 43 0.031
503
LYM009 Lymphocytic Choriomeningitis 43 0.031
504
c LNG050 Long Qt Syndrome 5 43 0.031
505
HRT008 Heart Conduction Disease 43 0.031
506
c HRD169 Hereditary Colorectal Cancer 43 0.031
507
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.031
508
MTR007 Motor Peripheral Neuropathy 43 0.031
509
GST009 Gastroschisis 43 0.031
510
c FTL006 Fetal Alcohol Spectrum Disorder 43 0.031
511
LGH004 Light Chain Deposition Disease 42 0.031
512
c BRG005 Brugada Syndrome 1 42 0.031
513
ART008 Arteriosclerosis Obliterans 42 0.031
514
P CNG390 Congenital Pulmonary Airway Malformation 41 0.031
515
c FML191 Familial Long Qt Syndrome 41 0.031
516
NSP002 Nasopharyngitis 41 0.031
517
c ALB009 Albinism, Oculocutaneous, Type Ia 41 0.031
518
TRC040 Tracheoesophageal Fistula 41 0.031
519
P ACQ009 Acquired Metabolic Disease 41 0.031
520
P HYP009 Hypertrophic Pyloric Stenosis 41 0.031
521
CRN025 Corneal Dystrophy 41 0.031
522
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 41 0.031
523
ATS010 Autosomal Recessive Disease 41 0.031
524
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 41 0.031
525
P MNN018 Mannosidosis 41 0.031
526
P CNG024 Congenital Nystagmus 40 0.031
527
P ACQ022 Acquired Generalized Lipodystrophy 40 0.031
528
P MTC004 Mitochondrial Encephalomyopathy 40 0.031
529
CDS002 Codas Syndrome 40 0.031
530
P CRN026 Corneal Edema 40 0.031
531
MTS001 Mutism 40 0.031
532
P KLF001 Kleefstra Syndrome 39 0.031
533
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 39 0.031
534
LRY029 Laryngomalacia 39 0.031
535
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 39 0.031
536
ATS009 Autosomal Genetic Disease 39 0.031
537
NTR005 Nutritional Deficiency Disease 39 0.031
538
P PRX010 Paroxysmal Ventricular Fibrillation 39 0.031
539
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 38 0.031
540
3PS001 3p- Syndrome 38 0.031
541
TND006 Tendinosis 38 0.031
542
LCK001 Locked-in Syndrome 38 0.031
543
P SYN012 Synpolydactyly 38 0.031
544
MNN032 Meningococcal Meningitis 38 0.031
545
c CHR579 Chiari Malformation Type Ii 38 0.031
546
P AXN001 Axonal Neuropathy 38 0.031
547
DVL001 Developmental Coordination Disorder 37 0.031
548
TLP001 Talipes Equinovarus 37 0.031
549
WBR001 Weber Syndrome 37 0.031
550
CNJ007 Conjunctivochalasis 37 0.031
551
c SPN097 Spinocerebellar Ataxia 23 37 0.031
552
c INT059 Internal Hemorrhoid 36 0.031
553
c CNG439 Congenital Lymphedema 36 0.031
554
MLT002 Multiple Symmetrical Lipomatosis 36 0.031
555
CCN007 Cocoon Syndrome 35 0.031
556
c DGT005 Digital Arthropathy-Brachydactyly, Familial 35 0.031
557
P ATS049 Autism Susceptibility, X-Linked 2 35 0.031
558
c CRB101 Cerebrooculofacioskeletal Syndrome 1 35 0.031
559
P LSS024 Lissencephaly with Cerebellar Hypoplasia 35 0.031
560
PST086 Posterior Cortical Atrophy 35 0.031
561
c PNT034 Pontocerebellar Hypoplasia, Type 2e 35 0.031
562
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 35 0.031
563
CRB001 Cerebral Lymphoma 35 0.031
564
TRS002 Tarsal-Carpal Coalition Syndrome 35 0.031
565
P ENC011 Encephalomyopathy 34 0.031
566
P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 34 0.031
567
HYP231 Hypothalamic Hamartomas 34 0.031
568
ADP007 Adie Pupil 34 0.031
569
c SPS078 Spastic Paraplegia 7 34 0.031
570
SYD002 Sydenham Chorea 34 0.031
571
EMN001 Emanuel Syndrome 33 0.031
572
P CLB027 Coloboma, Ocular 33 0.031
573
c PLN017 Peeling Skin Syndrome 1 33 0.031
574
c ACR088 Aicardi-Goutieres Syndrome 3 33 0.031
575
CHN065 Choanal Atresia, Posterior 33 0.031
576
P BND018 Band Heterotopia 33 0.031
577
SGT001 Sagittal Sinus Thrombosis 33 0.031
578
c MCR261 Microphthalmia, Syndromic 2 33 0.031
579
SCH011 Schizotypal Personality Disorder 33 0.031
580
c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 33 0.031
581
OST022 Osteopathia Striata with Cranial Sclerosis 33 0.031
582
ORB007 Orbital Cyst 33 0.031
583
c JBR004 Joubert Syndrome 2 33 0.031
584
PRM056 Primrose Syndrome 32 0.031
585
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 32 0.031
586
HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 32 0.031
587
PLY050 Polymicrogyria with Optic Nerve Hypoplasia 32 0.031
588
RGH009 Right Atrial Isomerism 32 0.031
589
TRP006 Tarp Syndrome 32 0.031
590
INF129 Infantile Cerebellar-Retinal Degeneration 32 0.031
591
ANT019 Anterograde Amnesia 31 0.031
592
KFM001 Kaufman Oculocerebrofacial Syndrome 31 0.031
593
ECH002 Echolalia 31 0.031
594
c LSS010 Lissencephaly 4 31 0.031
595
LJN003 Lujan-Fryns Syndrome 31 0.031
596
c OPT051 Opitz Gbbb Syndrome, Type I 31 0.031
597
PRS043 Prostate Rhabdomyosarcoma 31 0.031
598
P ATX024 Ataxia-Oculomotor Apraxia 3 31 0.031
599
MLY006 Molybdenum Cofactor Deficiency a 30 0.031
600
WDS002 Woods Syndrome 30 0.031
601
c PNT029 Pontocerebellar Hypoplasia Type 2d 30 0.031
602
MTH047 Methanol Poisoning 30 0.031
603
MCR064 Microcephaly, Seizures, and Developmental Delay 30 0.031
604
IDP041 Idiopathic Recurrent Pericarditis 30 0.031
605
c MCR239 Microcephaly 5, Primary, Autosomal Recessive 30 0.031
606
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 29 0.031
607
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 29 0.031
608
SWY001 Swayback 29 0.031
609
SPR034 Superior Limbic Keratoconjunctivitis 29 0.031
610
CHR390 Chromosome 14q11-Q22 Deletion Syndrome 29 0.031
611
SPT016 Septopreoptic Holoprosencephaly 29 0.031
612
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 29 0.031
613
P LNR015 Linear Skin Defects with Multiple Congenital Anomalies 28 0.031
614
MDD015 Mid-Dermal Elastolysis 28 0.031
615
P TRC101 Trichothiodystrophy 4, Nonphotosensitive 28 0.031
616
c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 28 0.031
617
ANT007 Anterior Horn Cell Disease 28 0.031
618
c ADM005 Adams-Oliver Syndrome 1 28 0.031
619
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 0.031
620
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 28 0.031
621
c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 28 0.031
622
ATM052 Autoimmune Disease 1 28 0.031
623
SPS002 Spastic Entropion 28 0.031
624
SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 27 0.031
625
GBT001 Gaba-Transaminase Deficiency 27 0.031
626
MCR183 Microcephaly-Capillary Malformation Syndrome 27 0.031
627
LCT005 Lacticacidemia Due to Pdx1 Deficiency 27 0.031
628
ASP024 Asparagine Synthetase Deficiency 27 0.031
629
CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 27 0.031
630
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 27 0.031
631
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27 0.031
632
CMB012 Combined Oxidative Phosphorylation Deficiency 1 27 0.031
633
CHR387 Chromosome Xp21 Deletion Syndrome 27 0.031
634
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 27 0.031
635
CHL109 Childhood Apraxia of Speech 27 0.031
636
EPL143 Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions 26 0.031
637
c MCR252 Microphthalmia, Syndromic 5 26 0.031
638
TRS012 Trisomy 22 26 0.031
639
c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26 0.031
640
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 26 0.031
641
RFM001 Roifman Syndrome 26 0.031
642
c PNT014 Pontocerebellar Hypoplasia Type 5 26 0.031
643
c HLP014 Holoprosencephaly-2 26 0.031
644
c PNT020 Pontocerebellar Hypoplasia Type 2b 26 0.031
645
c CNG389 Congenital Disorder of Glycosylation, Type Iim 26 0.031
646
c SPS096 Spastic Paraplegia 44, Autosomal Recessive 25 0.031
647
c FML294 Familial Short Qt Syndrome 25 0.031
648
c SPS095 Spastic Paraplegia 47, Autosomal Recessive 25 0.031
649
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25 0.031
650
c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 25 0.031
651
c CNG190 Congenital Disorder of Glycosylation, Type Iib 25 0.031
652
c MCK017 Meckel Syndrome 4 25 0.031
653
CMB009 Combined Sap Deficiency 25 0.031
654
FRS007 Frias Syndrome 25 0.031
655
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 25 0.031
656
SRN002 Sirenomelia 25 0.031
657
DBR002 De Barsy Syndrome 24 0.031
658
c HLP009 Holoprosencephaly-9 24 0.031
659
c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24 0.031
660
END059 Endocrine-Cerebroosteodysplasia 24 0.031
661
c RTT008 Rett Syndrome, Congenital Variant 24 0.031
662
c HLP011 Holoprosencephaly-7 24 0.031
663
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 24 0.031
664
c SPS101 Spastic Paraplegia 56, Autosomal Recessive 24 0.031
665
CPT005 Cpt Ii Deficiency, Lethal Neonatal 24 0.031
666
c PNT033 Pontocerebellar Hypoplasia, Type 10 24 0.031
667
c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 24 0.031
668
c CRN256 Craniosynostosis 6 24 0.031
669
MTC088 Mitochondrial Dna Depletion Syndrome 13 24 0.031
670
c SPS103 Spastic Paraplegia 50, Autosomal Recessive 24 0.031
671
c JBR031 Joubert Syndrome 21 24 0.031
672
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 24 0.031
673
c RNG022 Ring Chromosome 6 24 0.031
674
c CNG201 Congenital Disorder of Glycosylation, Type Iij 24 0.031
675
OCC011 Occipital Encephalocele 23 0.031
676
BRN007 Brain Oligodendroglioma 23 0.031
677
c LKD015 Leukodystrophy, Hypomyelinating, 3 23 0.031
678
PNT009 Pontine Tegmental Cap Dysplasia 23 0.031
679
c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23 0.031
680
OCL039 Oculoectodermal Syndrome 23 0.031
681
CHR366 Chromosome 5p13 Duplication Syndrome 23 0.031
682
c CLR115 Ciliary Dyskinesia, Primary, 31 23 0.031
683
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 23 0.031
684
c CRD167 Cardiofaciocutaneous Syndrome 4 23 0.031
685
WBB001 Webb-Dattani Syndrome 23 0.031
686
c LKD020 Leukodystrophy, Hypomyelinating, 10 23 0.031
687
3HY006 3-Hydroxyisobutryl-Coa Hydrolase Deficiency 22 0.031
688
c MNT143 Mental Retardation, Autosomal Dominant 13 22 0.031
689
c MNT156 Mental Retardation, Autosomal Dominant 14 22 0.031
690
LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 22 0.031
691
IMM121 Immunodeficiency 26, with or Without Neurologic Abnormalities 22 0.031
692
PRV007 Periventricular Heterotopia with Microcephaly 22 0.031
693
GLT011 Glutamine Deficiency, Congenital 22 0.031
694
PLY104 Polymicrogyria with Seizures 22 0.031
695
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 22 0.031
696
MLY005 Molybdenum Cofactor Deficiency B 22 0.031
697
EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 22 0.031
698
PHC004 Phace Syndrome 21 0.031
699
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 21 0.031
700
c ORF033 Orofaciodigital Syndrome V 21 0.031
701
SCH024 Schinzel Giedion Syndrome 21 0.031
702
c SPS135 Spastic Paraplegia 63 21 0.031
703
c BRT039 Baraitser-Winter Syndrome 2 21 0.031
704
CMB046 Combined Oxidative Phosphorylation Deficiency 11 21 0.031
705
SCH037 Schinzel-Giedion Midface Retraction Syndrome 21 0.031
706
c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 21 0.031
707
CMB016 Combined Oxidative Phosphorylation Deficiency 5 21 0.031
708
c HLP016 Holoprosencephaly 11 21 0.031
709
c ORF036 Orofaciodigital Syndrome Xiv 21 0.031
710
c LKD016 Leukodystrophy, Hypomyelinating, 9 21 0.031
711
c MCK026 Meckel Syndrome 12 21 0.031
712
CMB051 Combined Oxidative Phosphorylation Deficiency 21 20 0.031
713
MCR226 Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 20 0.031
714
c EPL139 Epileptic Encephalopathy, Early Infantile, 28 20 0.031
715
CHR225 Chromosome 1q21.1 Duplication Syndrome 20 0.031
716
VNM003 Van Maldergem Syndrome 1 20 0.031
717
c DKP001 Dk Phocomelia Syndrome 20 0.031
718
c MNT159 Mental Retardation, Autosomal Dominant 19 20 0.031
719
c FML302 Familial Schizencephaly, Shh-Related 20 0.031
720
SKT001 Sakati Syndrome 20 0.031
721
CMB048 Combined Oxidative Phosphorylation Deficiency 15 19 0.031
722
LVY002 Levy-Shanske Syndrome 19 0.031
723
c HYD040 Hydrolethalus Syndrome 2 19 0.031
724
c LKD021 Leukodystrophy, Hypomyelinating, 11 19 0.031
725
c MNT235 Mental Retardation, Autosomal Dominant 37 19 0.031
726
VNM002 Van Maldergem Syndrome 2 19 0.031
727
MNN022 Meningoencephalocele 19 0.031
728
c RNG018 Ring Chromosome 22 19 0.031
729
BRK011 Brooks-Wisniewski-Brown Syndrome 19 0.031
730
c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 19 0.031
731
c PNT039 Pontocerebellar Hypoplasia, Type 7 19 0.031
732
c SPS123 Spastic Paraplegia 32, Autosomal Recessive 19 0.031
733
NLX003 Neu-Laxova Syndrome 2 19 0.031
734
c CNG100 Congenital Herpes Simplex 18 0.031
735
KPR002 Kapur-Toriello Syndrome 18 0.031
736
LKN007 Leukonychia Totalis 18 0.031
737
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 18 0.031
738
c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 18 0.031
739
LWR016 Lowry-Maclean Syndrome 18 0.031
740
CHR596 Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included 18 0.031
741
BFD001 Bifid Nose 18 0.031
742
BSL040 Basel-Vanagait-Smirin-Yosef Syndrome 17 0.031
743
CRN264 Craniosynostosis with Fibular Aplasia 17 0.031
744
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 17 0.031
745
TTR019 Tetrasomy 5p 17 0.031
746
DPL009 Duplication of the Pituitary Gland 17 0.031
747
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 17 0.031
748
c TRC103 Trichothiodystrophy 5, Nonphotosensitive 17 0.031
749
c MCR321 Microcephaly 17, Primary, Autosomal Recessive 17 0.031
750
EPG004 Epignathus 17 0.031
751
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 16 0.031
752
CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 16 0.031
753
MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 16 0.031
754
P ALP068 Alopecia-Intellectual Disability Syndrome 15 0.031
755
MSL004 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis 15 0.031
756
CRB164 Cerebrooculonasal Syndrome 15 0.031
757
MNT256 Mental Retardation, Buenos Aires Type 15 0.031
758
KLF003 Kleefstra Syndrome Due to 9q34 Microdeletion 15 0.031
759
P MNS011 Monosomy 9q22.3 14 0.031
760
6QT002 6q Terminal Deletion Syndrome 14 0.031
761
HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 14 0.031
762
SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 14 0.031
763
CNG067 Congenital Cystic Eye 14 0.031
764
MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 13 0.031
765
DFN300 Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 13 0.031
766
11Q001 11q22.2q22.3 Microdeletion Syndrome 13 0.031
767
CHR223 Chromosome 1q Deletion 13 0.031
768
c HYP702 Hypomyelinating Leukodystrophy 12 12 0.031
769
8PN001 8p Inverted Duplication/deletion Syndrome 12 0.031
770
c SYN080 Syndromic X-Linked Intellectual Disability 34 12 0.031
771
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 12 0.031
772
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 12 0.031
773
HDZ001 Hadziselimovic Syndrome 12 0.031
774
VNG001 Vangl1-Related Neural Tube Defect 12 0.031
775
INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 12 0.031
776
ISL075 Isolated Pierre Robin Sequence 12 0.031
777
INH016 Inherited Isolated Adrenal Insufficiency Due to Cyp11a1 Deficiency 11 0.031
778
TYS007 Tyshchenko Syndrome 11 0.031
779
P MTR057 Maternal Uniparental Disomy of Chromosome X 11 0.031
780
CG2001 Cog2-Cdg 10 0.031
781
MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 10 0.031
782
CNS012 Cono-Spondylar Dysplasia 10 0.031
783
FML160 Familial Spastic Paralysis 10 0.031
784
LKN004 Leukoencephalopathy Palmoplantar Keratoderma 9 0.031
785
XQ1001 Xq12-Q13.3 Duplication Syndrome 9 0.031
786
MNT268 Mental Retardation, X-Linked, Syndromic, Borck Type 9 0.031
787
FTL010 Fetal Akinesia Syndrome X-Linked 8 0.031