Search results for "corpus callosum"

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

765 hits were found for 'corpus callosum'

# Family MCID Name MIFTS Score
1
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 40 9.858
2
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 24 6.609
3
VCS001 Vici Syndrome 43 5.540
4
CRP010 Corpus Callosum Agenesis 38 5.330
5
PRD011 Proud Syndrome 42 5.246
6
CRP025 Corpus Callosum, Partial Agenesis of 24 4.879
7
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 36 4.852
8
MSS001 Masa Syndrome 52 4.543
9
CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 19 4.508
10
TMT003 Temtamy Syndrome 25 4.143
11
c SPS092 Spastic Paraplegia 11 25 4.090
12
CHD004 Chudley-Mccullough Syndrome 37 3.779
13
ACR012 Aicardi Syndrome 46 3.771
14
CRP003 Corpus Callosum Lipoma 18 3.747
15
CRP011 Corpus Callosum Agenesis Double Urinary Collecting 12 3.712
16
XLN220 X-Linked Complicated Corpus Callosum Agenesis 8 3.676
17
ACR008 Acrocallosal Syndrome 52 3.302
18
WHT018 White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome 14 3.285
19
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 15 3.240
20
XLN149 X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis 8 3.229
21
SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 13 3.218
22
ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 11 3.207
23
DNN002 Donnai-Barrow Syndrome 35 2.720
24
MCR061 Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 9 2.661
25
CRN265 Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development 33 2.623
26
CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 19 2.623
27
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 26 2.608
28
CMB013 Combined Oxidative Phosphorylation Deficiency 2 20 2.608
29
SPS189 Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome 6 2.608
30
P FCL005 Focal Segmental Glomerulosclerosis 60 2.591
31
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 34 2.591
32
XLN107 X-Linked Lissencephaly with Abnormal Genitalia 26 2.591
33
SHP003 Shapiro Syndrome 26 1.946
34
ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 14 1.911
35
CRP024 Corpus Callosum Oligodendroglioma 5 1.897
36
c LSS012 Lissencephaly, X-Linked 2 24 1.882
37
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 6 1.882
38
CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 5 1.882
39
BND006 Bone Dysplasia Corpus Callosum Agenesis 3 1.882
40
STR027 Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 2 1.882
41
FCL018 Facial Clefting Corpus Callosum Agenesis 2 1.882
42
HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 2 1.882
43
PLY047 Polysyndactyly Trigonocephaly Agenesis of Corpus Callosum 2 1.882
44
CRP012 Corpus Callosum Agenesis of Blepharophimosis Robin Type 2 1.875
45
CRP013 Corpus Callosum Dysgenesis Cleft Spasm 2 1.875
46
CRP014 Corpus Callosum Dysgenesis Hypopituitarism 2 1.875
47
CRP015 Corpus Callosum Dysgenesis X-Linked Recessive 2 1.875
48
c MCR217 Microphthalmia, Syndromic 11 22 1.865
49
c MNT213 Mental Retardation, Autosomal Recessive 40 20 1.865
50
MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 9 1.865
51
PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 5 1.865
52
SVR091 Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome 4 1.865
53
SPG001 Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum 3 1.865
54
P LSS027 Lissencephaly, X-Linked 41 1.844
55
c MNT245 Mental Retardation, Autosomal Dominant 36 17 1.844
56
THR039 Thrombocytopenia Robin Sequence 10 1.844
57
BNR003 Ben Ari Shuper Mimouni Syndrome 4 1.844
58
PLR009 Pol Iii-Related Leukodystrophies 38 1.818
59
CLL019 Calloso-Genital Dysplasia 5 1.818
60
SKD001 Sakoda Complex 4 1.818
61
DKR001 Duker Weiss Siber Syndrome 3 1.818
62
KZL003 Kozlowski Ouvrier Syndrome 3 1.818
63
SLB001 Saal Bulas Syndrome 3 1.818
64
SPS057 Spasticity 42 0.276
65
PRP016 Paraplegia 49 0.236
66
c HRD010 Hereditary Spastic Paraplegia 67 0.215
67
P MCR010 Microcephaly 58 0.170
68
LPM004 Lipoma 60 0.155
69
P INT063 Intellectual Disability 49 0.132
70
P EPL164 Epilepsy 66 0.124
71
MRC001 Marchiafava Bignami Disease 39 0.117
72
PLY024 Polymicrogyria 35 0.116
73
P LSS002 Lissencephaly 49 0.106
74
P HYD006 Hydrocephalus 66 0.104
75
CRB009 Cerebritis 39 0.101
76
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.101
77
NRN002 Neuronitis 41 0.098
78
P NRP001 Neuropathy 59 0.097
79
P TRC086 Trichohepatoenteric Syndrome 1 48 0.093
80
P HLP001 Holoprosencephaly 63 0.091
81
P SCH018 Schizencephaly 52 0.091
82
CLF001 Cleft Lip 50 0.091
83
P MWT001 Mowat-Wilson Syndrome 46 0.091
84
DND001 Dandy-Walker Syndrome 44 0.091
85
SPS019 Spastic Paraparesis 41 0.091
86
CLP002 Colpocephaly 15 0.091
87
END072 Endotheliitis 42 0.088
88
P SCH015 Schizophrenia 77 0.087
89
P ENC008 Encephalocele 48 0.087
90
LNN001 Lennox-Gastaut Syndrome 57 0.082
91
P CFF001 Coffin-Siris Syndrome 51 0.079
92
ACR041 Acromelic Frontonasal Dysostosis 45 0.079
93
OCL034 Oculocerebrocutaneous Syndrome 27 0.079
94
MGL013 Megalencephaly 52 0.075
95
ARC002 Arachnoiditis 41 0.075
96
ARC007 Arachnoid Cysts 39 0.075
97
ALR002 Al-Raqad Syndrome 36 0.075
98
RLP002 Relapsing-Remitting Multiple Sclerosis 55 0.072
99
c WRB002 Warburg Micro Syndrome 1 39 0.072
100
P HYP265 Hypotonia 38 0.072
101
P FRN036 Frontonasal Dysplasia 1 32 0.072
102
P MNT158 Mental Retardation, Autosomal Dominant 22 24 0.072
103
AND005 Androgen Insensitivity Syndrome, Mild 16 0.067
104
P MNN013 Meningitis 67 0.064
105
APR006 Apert Syndrome 67 0.064
106
SMT004 Smith-Lemli-Opitz Syndrome 66 0.064
107
OBS002 Obsessive-Compulsive Disorder 66 0.064
108
c JBR020 Joubert Syndrome 1 60 0.064
109
MCR013 Microphthalmia 60 0.064
110
P CTR002 Cataract 58 0.064
111
P PLY006 Polydactyly 56 0.064
112
CFF002 Coffin-Lowry Syndrome 55 0.064
113
P LTR001 Lateral Sclerosis 53 0.064
114
QDR001 Quadriplegia 52 0.064
115
GRG001 Greig Cephalopolysyndactyly Syndrome 51 0.064
116
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 50 0.064
117
CRB045 Cerebellar Hypoplasia 48 0.064
118
ALB002 Albinism 46 0.064
119
BRT030 Birth Defects 43 0.064
120
CHR222 Chromosome 1p36 Deletion Syndrome 41 0.064
121
CHR078 Chorioretinitis 40 0.064
122
GNT031 Genitopatellar Syndrome 39 0.064
123
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 39 0.064
124
PCH002 Pachygyria 39 0.064
125
FRY002 Fryns Syndrome 37 0.064
126
BHR002 Bohring-Opitz Syndrome 35 0.064
127
P MCR241 Microphthalmia, Syndromic 3 32 0.064
128
CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 28 0.064
129
c FRN037 Frontal Encephalocele 20 0.064
130
LSS026 Lissencephaly 6, with Microcephaly 17 0.064
131
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.059
132
HPT074 Hepatic Adenoma, Somatic 50 0.059
133
CHL078 Childhood-Onset Schizophrenia 34 0.059
134
SRC014 Sarcoma 66 0.058
135
PTR006 Peters Anomaly 65 0.056
136
P NRM001 Neuromyelitis Optica 60 0.056
137
HMF006 Hemifacial Microsomia 55 0.056
138
FCL009 Focal Dermal Hypoplasia 54 0.056
139
P MCK022 Meckel Syndrome 1 54 0.056
140
P GLY010 Glycine Encephalopathy 53 0.056
141
AGN012 Agnathia-Otocephaly Complex 53 0.056
142
P ATX004 Ataxia 53 0.056
143
SNG010 Single Median Maxillary Central Incisor 52 0.056
144
P MGR003 Migraine with Aura 52 0.056
145
P STS008 Sotos Syndrome 1 51 0.056
146
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 50 0.056
147
WLF002 Wolf-Hirschhorn Syndrome 49 0.056
148
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 48 0.056
149
SPT006 Septooptic Dysplasia 46 0.056
150
CLF004 Cleft Lip/palate 46 0.056
151
c ORF037 Orofaciodigital Syndrome I 46 0.056
152
CRN248 Craniofrontonasal Dysplasia 45 0.056
153
MLL018 Miller-Dieker Lissencephaly Syndrome 45 0.056
154
SKN023 Skin Tag 44 0.056
155
SPS004 Spastic Quadriplegia 39 0.056
156
NLX002 Neu-Laxova Syndrome1 38 0.056
157
c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 38 0.056
158
BLP004 Blepharophimosis 38 0.056
159
FMR004 Fumarase Deficiency 38 0.056
160
c CNG031 Congenital Nervous System Abnormality 37 0.056
161
TTR016 Tetra-Amelia Syndrome 36 0.056
162
CHR492 Chromosome 13q14 Deletion Syndrome 36 0.056
163
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 36 0.056
164
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 34 0.056
165
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 34 0.056
166
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 33 0.056
167
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 32 0.056
168
DSM002 Desmosterolosis 31 0.056
169
HRT030 Hartsfield Syndrome 30 0.056
170
SDD003 Saddan 30 0.056
171
c MCR251 Microphthalmia, Syndromic 6 28 0.056
172
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 28 0.056
173
GLD002 Goldberg-Shprintzen Megacolon Syndrome 27 0.056
174
c EPL102 Epileptic Encephalopathy, Early Infantile, 18 25 0.056
175
HNM002 Hinman Syndrome 25 0.056
176
MCR257 Microcephaly, Amish Type 24 0.056
177
c LSS009 Lissencephaly 3 24 0.056
178
c EPL119 Epileptic Encephalopathy, Early Infantile, 17 24 0.056
179
c PNT030 Pontocerebellar Hypoplasia, Type 8 23 0.056
180
PSD046 Pseudotrisomy 13 Syndrome 23 0.056
181
c PNT032 Pontocerebellar Hypoplasia, Type 9 23 0.056
182
CHR383 Chromosome 1p32-P31 Deletion Syndrome 22 0.056
183
c PNT035 Pontocerebellar Hypoplasia, Type 1c 20 0.056
184
CRN104 Craniotelencephalic Dysplasia 18 0.056
185
CHR483 Chromosome 3q13.31 Deletion Syndrome 18 0.056
186
GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 17 0.056
187
FXG001 Foxg1 Syndrome 15 0.056
188
CRN266 Craniofacial Dyssynostosis with Short Stature 15 0.056
189
LSS034 Lissencephaly Type Iii and Bone Dysplasia 14 0.056
190
AGN009 Agenesis and Aplasia of Uterine Body 8 0.056
191
P TRT010 Teratoma 52 0.051
192
P THR014 Thrombocytopenia 64 0.050
193
P ENC018 Encephalopathy 59 0.050
194
STT001 Status Epilepticus 59 0.050
195
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 53 0.050
196
c ORF040 Orofaciodigital Syndrome Viii 48 0.050
197
WLL004 Wallerian Degeneration 36 0.050
198
HRS011 Horseshoe Kidney 33 0.050
199
P LYM118 Lymphoma 69 0.048
200
ADN018 Adenoma 58 0.048
201
P THY032 Thyroiditis 54 0.048
202
P NRV007 Nervous System Disease 71 0.045
203
P NRF002 Neurofibromatosis 71 0.045
204
ACR007 Acromegaly 66 0.045
205
P RBN001 Rubinstein-Taybi Syndrome 64 0.045
206
P HYP086 Hypothyroidism 64 0.045
207
P ALX003 Alexander Disease 63 0.045
208
P OST001 Osteopetrosis 63 0.045
209
c TBR024 Tuberous Sclerosis-1 63 0.045
210
P PRS038 Personality Disorder 62 0.045
211
GST092 Gastroesophageal Reflux 62 0.045
212
ADR016 Adrenal Cortical Carcinoma 61 0.045
213
CHL071 Child Syndrome 58 0.045
214
P OLG002 Oligodendroglioma 56 0.045
215
P TRM003 Tremor 54 0.045
216
CCH002 Coach Syndrome 54 0.045
217
CHN016 Cohen Syndrome 54 0.045
218
CND002 Conduct Disorder 54 0.045
219
TWN003 Townes-Brocks Syndrome 53 0.045
220
KDS001 Kid Syndrome 53 0.045
221
P EXP004 Exophthalmos 53 0.045
222
CYT008 Cytomegalovirus Infection 52 0.045
223
ECT006 Ectodermal Dysplasia 52 0.045
224
P SPS003 Spastic Diplegia 52 0.045
225
ADR044 Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 52 0.045
226
SMT008 Smith-Magenis Syndrome 52 0.045
227
PHL006 Phelan-Mcdermid Syndrome 51 0.045
228
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 51 0.045
229
BLL001 Baller-Gerold Syndrome 51 0.045
230
MYL020 Myelomeningocele 51 0.045
231
P LFT003 Left Ventricular Noncompaction 50 0.045
232
DBF001 D-Bifunctional Protein Deficiency 50 0.045
233
CSY001 C Syndrome 50 0.045
234
c ATS275 Autosomal Recessive Primary Microcephaly 48 0.045
235
JCB001 Jacobsen Syndrome 48 0.045
236
P MRD002 Marden-Walker Syndrome 46 0.045
237
HDN002 Head Injury 45 0.045
238
P MSC022 Mosaic Variegated Aneuploidy Syndrome 44 0.045
239
KRT008 Keratopathy 44 0.045
240
CRT015 Carotid Artery Occlusion 43 0.045
241
DXT001 Dextrocardia 43 0.045
242
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 43 0.045
243
MST006 Mast Syndrome 43 0.045
244
BHR001 Behr Syndrome 42 0.045
245
NRN016 Neuronal Migration Disorders 42 0.045
246
OCL001 Ocular Albinism 42 0.045
247
DBW001 Dubowitz Syndrome 41 0.045
248
ATS010 Autosomal Recessive Disease 41 0.045
249
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 40 0.045
250
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 40 0.045
251
ENT001 Enterocele 40 0.045
252
TRP014 Triploidy 40 0.045
253
TRN012 Transient Global Amnesia 39 0.045
254
JBR006 Joubert Syndrome with Oculorenal Anomalies 39 0.045
255
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 39 0.045
256
LCK001 Locked-in Syndrome 38 0.045
257
P ORF002 Orofacial Cleft 38 0.045
258
c LSS005 Lissencephaly 1 38 0.045
259
P CHR342 Chiari Malformation 38 0.045
260
P DYS005 Dyslexia 37 0.045
261
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 37 0.045
262
EMN001 Emanuel Syndrome 36 0.045
263
CNG069 Congenital Cytomegalovirus 36 0.045
264
P KLN006 Koolen-De Vries Syndrome 36 0.045
265
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 35 0.045
266
ENC010 Encephalocraniocutaneous Lipomatosis 35 0.045
267
c BRT038 Baraitser-Winter Syndrome 1 35 0.045
268
ADP007 Adie Pupil 34 0.045
269
c MCR263 Microphthalmia, Syndromic 1 34 0.045
270
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.045
271
LBR025 Lobar Holoprosencephaly 34 0.045
272
PTC002 Potocki-Lupski Syndrome 33 0.045
273
c WRB005 Warburg Micro Syndrome 4 33 0.045
274
JBR005 Joubert Syndrome with Ocular Anomalies 32 0.045
275
KR001 Koro 32 0.045
276
OPT054 Opitz-Kaveggia Syndrome 32 0.045
277
CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32 0.045
278
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 31 0.045
279
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 31 0.045
280
LRN006 Laurin-Sandrow Syndrome 31 0.045
281
MCR025 Microhydranencephaly 31 0.045
282
c RNG008 Ring Chromosome 13 30 0.045
283
CHR518 Chromosome 9p Deletion Syndrome 30 0.045
284
CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 29 0.045
285
STR046 Stargardt Macular Degeneration 29 0.045
286
c PNT037 Pontocerebellar Hypoplasia, Type 3 28 0.045
287
JBR007 Joubert Syndrome with Renal Anomalies 28 0.045
288
P SYN064 Syndromic X-Linked Intellectual Disability 28 0.045
289
c SPS114 Spastic Paraplegia 45, Autosomal Recessive 28 0.045
290
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 28 0.045
291
MSC020 Mosaic Trisomy 8 28 0.045
292
PHC004 Phace Syndrome 27 0.045
293
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.045
294
FMR018 Femoral-Facial Syndrome 27 0.045
295
CHR387 Chromosome Xp21 Deletion Syndrome 27 0.045
296
BND001 Band Keratopathy 26 0.045
297
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 26 0.045
298
c MNT198 Mental Retardation, X-Linked 98 25 0.045
299
49X002 49,xxxxy Syndrome 25 0.045
300
CMB026 Combined Oxidative Phosphorylation Deficiency 12 25 0.045
301
c FRN033 Frontonasal Dysplasia 2 25 0.045
302
c APL023 Aplasia Cutis Congenita, Nonsyndromic 24 0.045
303
FRN022 Frontofacionasal Dysplasia 24 0.045
304
c FBR049 Fibrosis of Extraocular Muscles, Congenital, 3a 24 0.045
305
FCL064 Facial Dysmorphism with Multiple Malformations 23 0.045
306
PLY110 Polymicrogyria, Bilateral Temporooccipital 23 0.045
307
c MNT248 Mental Retardation, X-Linked 102 22 0.045
308
PLY102 Polymicrogyria, Symmetric or Asymmetric 22 0.045
309
MNT014 Mental Retardation Epilepsy 22 0.045
310
CHR399 Chromosome 4q21 Deletion Syndrome 22 0.045
311
c WRB003 Warburg Micro Syndrome 2 21 0.045
312
3HY001 3-Hydroxyisobutyric Aciduria 21 0.045
313
CHR568 Chromosome 6q24-Q25 Deletion Syndrome 21 0.045
314
c WRB004 Warburg Micro Syndrome 3 21 0.045
315
CHR487 Chromosome 8q21.11 Deletion Syndrome 21 0.045
316
LVY002 Levy-Shanske Syndrome 20 0.045
317
16Q001 16q24.3 Microdeletion Syndrome 20 0.045
318
P CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 20 0.045
319
CHR224 Chromosome 1q Duplication 19 0.045
320
HLZ001 Holzgreve Syndrome 18 0.045
321
EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 18 0.045
322
PRX085 Preaxial Hallucal Polydactyly 18 0.045
323
TTR019 Tetrasomy 5p 18 0.045
324
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 18 0.045
325
DPL009 Duplication of the Pituitary Gland 18 0.045
326
c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 18 0.045
327
CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 17 0.045
328
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 17 0.045
329
CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 17 0.045
330
ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 17 0.045
331
P ALP068 Alopecia-Intellectual Disability Syndrome 16 0.045
332
XGB001 Xia-Gibbs Syndrome 16 0.045
333
DST044 Distal Trisomy 14q 16 0.045
334
CRN076 Crane-Heise Syndrome 16 0.045
335
HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 16 0.045
336
6QT002 6q Terminal Deletion Syndrome 16 0.045
337
ABS003 Absence of Septum Pellucidum 14 0.045
338
11Q001 11q22.2q22.3 Microdeletion Syndrome 14 0.045
339
1Q4001 1q44 Microdeletion Syndrome 13 0.045
340
MYC060 Mycophenolate Mofetil Embryopathy 13 0.045
341
8PN001 8p Inverted Duplication/deletion Syndrome 13 0.045
342
AMN013 Aminopterin/methotrexate Embryofetopathy 13 0.045
343
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 13 0.045
344
14Q001 14q12 Microdeletion Syndrome 13 0.045
345
ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 13 0.045
346
INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 12 0.045
347
19P001 19p13.12 Microdeletion Syndrome 12 0.045
348
16P003 16p13.11 Microdeletion Syndrome 12 0.045
349
MNS013 Monosomy 13q34 12 0.045
350
LNR012 Linear Verrucous Nevus Syndrome 12 0.045
351
MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 12 0.045
352
P MTR057 Maternal Uniparental Disomy of Chromosome X 12 0.045
353
20Q001 20q13.33 Microdeletion Syndrome 12 0.045
354
CG2001 Cog2-Cdg 11 0.045
355
CNS012 Cono-Spondylar Dysplasia 11 0.045
356
INF053 Infantile Spasms Broad Thumbs 11 0.045
357
XQ1001 Xq12-Q13.3 Duplication Syndrome 10 0.045
358
LKN004 Leukoencephalopathy Palmoplantar Keratoderma 10 0.045
359
XLN092 X-Linked Neurodegenerative Syndrome, Bertini Type 8 0.045
360
MCR275 Microcephaly with Polymicrogyria 7 0.045
361
CRB037 Cerebral Palsy 66 0.042
362
THR024 Thrombosis 57 0.042
363
WST001 West Syndrome 57 0.042
364
P ANT006 Antiphospholipid Syndrome 56 0.042
365
MTR010 Mature Teratoma 42 0.042
366
P APL001 Aplastic Anemia 75 0.038
367
P GLB002 Glioblastoma 68 0.038
368
P TBR001 Tuberous Sclerosis 67 0.038
369
P NJM001 Nijmegen Breakage Syndrome 67 0.038
370
P HMN010 Hemangioma 59 0.038
371
PLY023 Polycystic Liver Disease 56 0.038
372
P HMR012 Hemorrhagic Fever 56 0.038
373
DMY004 Demyelinating Disease 53 0.038
374
P HYP024 Hypoparathyroidism 53 0.038
375
NRT004 Neuritis 52 0.038
376
TMP001 Temporal Lobe Epilepsy 50 0.038
377
MYL003 Myeloid Sarcoma 48 0.038
378
PRV004 Periventricular Leukomalacia 48 0.038
379
LPM005 Lipomatosis 47 0.038
380
HMN009 Hemangioblastoma 45 0.038
381
HMM003 Hemimegalencephaly 45 0.038
382
LKM006 Leukomalacia 43 0.038
383
P CNG390 Congenital Pulmonary Airway Malformation 41 0.038
384
SGT001 Sagittal Sinus Thrombosis 35 0.038
385
OBS004 Obstructive Hydrocephalus 34 0.038
386
PRL026 Proliferative Vasculopathy and Hydraencephaly-Hydrocephaly Syndrome 25 0.038
387
P CLR023 Colorectal Cancer 97 0.032
388
P HNT016 Huntington Disease 80 0.032
389
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 78 0.032
390
NRL016 Neural Tube Defects 76 0.032
391
PHN003 Phenylketonuria 72 0.032
392
P INF038 Influenza 72 0.032
393
TTR001 Tetralogy of Fallot 71 0.032
394
MLT021 Multiple System Atrophy 70 0.032
395
FBR012 Fabry Disease 69 0.032
396
PCK002 Pick Disease 68 0.032
397
c NRF018 Neurofibromatosis, Type 1 67 0.032
398
P KDN018 Kidney Disease 66 0.032
399
ART005 Arteriovenous Malformation 66 0.032
400
P MSC005 Muscular Dystrophy 65 0.032
401
P NMN002 Niemann-Pick Disease 65 0.032
402
DMN002 Dementia 65 0.032
403
P HRP006 Herpes Simplex 65 0.032
404
P AST007 Astrocytoma 65 0.032
405
P CNJ013 Conjunctivitis 64 0.032
406
P ANR002 Aniridia 64 0.032
407
P CRB042 Cerebellar Ataxia 63 0.032
408
P DYS007 Dyskeratosis Congenita 63 0.032
409
c NMN015 Niemann-Pick Disease, Type C1 63 0.032
410
P MCH002 Machado-Joseph Disease 63 0.032
411
P CRD013 Cardiofaciocutaneous Syndrome 63 0.032
412
GLB015 Glioblastoma Multiforme 63 0.032
413
P MCL013 Mucolipidosis Iv 62 0.032
414
P BPL003 Bipolar Disorder 62 0.032
415
P VLC001 Velocardiofacial Syndrome 62 0.032
416
P NRC002 Narcolepsy 62 0.032
417
P PRD006 Prader-Willi Syndrome 62 0.032
418
P LYM025 Lymphedema 61 0.032
419
P ANG001 Angelman Syndrome 61 0.032
420
PLM134 Pulmonary Fibrosis, Idiopathic 61 0.032
421
P MCP010 Mucopolysaccharidosis 60 0.032
422
P CNG015 Congenital Diaphragmatic Hernia 60 0.032
423
P PNC025 Panic Disorder 60 0.032
424
MSM014 Mismatch Repair Cancer Syndrome 57 0.032
425
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 57 0.032
426
TRG002 Trigeminal Neuralgia 57 0.032
427
EXF001 Exfoliation Syndrome 57 0.032
428
SNS001 Sensorineural Hearing Loss 57 0.032
429
P PLY019 Polyneuropathy 56 0.032
430
P MYP006 Myopia 56 0.032
431
PRP019 Peripheral Nervous System Disease 55 0.032
432
P SCL018 Scoliosis 55 0.032
433
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.032
434
P FNC043 Fanconi Anemia, Complementation Group E 55 0.032
435
P LPR002 Leopard Syndrome 55 0.032
436
P CDS001 Cadasil 55 0.032
437
P RTN016 Retinal Degeneration 54 0.032
438
P HYP083 Hypopituitarism 54 0.032
439
c BCT007 Bacterial Meningitis 54 0.032
440
APH002 Aphasia 54 0.032
441
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 54 0.032
442
P FTL001 Fetal Alcohol Syndrome 53 0.032
443
P DBT005 Diabetes Insipidus 53 0.032
444
P HLL001 Hallermann-Streiff Syndrome 53 0.032
445
IMP002 Imperforate Anus 52 0.032
446
OPT037 Optic Nerve Hypoplasia 52 0.032
447
BRN071 Brain Injury 52 0.032
448
P PTS002 Ptosis 51 0.032
449
P GND004 Gonadal Dysgenesis 51 0.032
450
P HYD011 Hydrolethalus Syndrome 51 0.032
451
P CRP007 Carpenter Syndrome 51 0.032
452
APR001 Apraxia 51 0.032
453
P SMP003 Simpson-Golabi-Behmel Syndrome 51 0.032
454
GLL032 Galloway-Mowat Syndrome 51 0.032
455
c VRL012 Viral Meningitis 50 0.032
456
CDL003 Caudal Regression Syndrome 50 0.032
457
RTN023 Retinitis 50 0.032
458
P MLT007 Multiple Epiphyseal Dysplasia 50 0.032
459
PRL032 Perlman Syndrome 50 0.032
460
NRM002 Normal Pressure Hydrocephalus 50 0.032
461
OPT009 Optic Neuritis 50 0.032
462
NRG002 Neurogenic Bladder 50 0.032
463
URB001 Urbach-Wiethe Disease 49 0.032
464
CCN001 Cocaine Dependence 49 0.032
465
MLL012 Miller Syndrome 49 0.032
466
P HYP071 Hypersensitivity Reaction Type Ii Disease 49 0.032
467
PRT029 Parathyroid Adenoma 48 0.032
468
STT041 Stuttering 48 0.032
469
MBS002 Moebius Syndrome 47 0.032
470
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 47 0.032
471
P PTT014 Pitt-Hopkins Syndrome 47 0.032
472
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 47 0.032
473
c BPL002 Bipolar I Disorder 47 0.032
474
TBR011 Tuberculous Meningitis 47 0.032
475
DWR001 Dwarfism 47 0.032
476
P GLM040 Glioma Susceptibility 1 47 0.032
477
P CRT033 Corticobasal Degeneration 47 0.032
478
P ORF001 Orofaciodigital Syndrome 47 0.032
479
P MNN018 Mannosidosis 47 0.032
480
TRN022 Transcobalamin Ii Deficiency 46 0.032
481
SYN005 Synostosis 46 0.032
482
PYL006 Pyloric Stenosis 46 0.032
483
ACH001 Acheiropody 46 0.032
484
CRB151 Cerebral Creatine Deficiency Syndrome 1 46 0.032
485
INT054 Intraocular Lymphoma 45 0.032
486
P PLN008 Peeling Skin Syndrome 45 0.032
487
CRB004 Cerebral Artery Occlusion 45 0.032
488
CCN007 Cocoon Syndrome 45 0.032
489
TRC040 Tracheoesophageal Fistula 45 0.032
490
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 44 0.032
491
P D2H001 D-2-Hydroxyglutaric Aciduria 44 0.032
492
RGH009 Right Atrial Isomerism 44 0.032
493
NSH001 Nasu-Hakola Disease 44 0.032
494
SPS007 Spastic Cerebral Palsy 44 0.032
495
HYP085 Hypothalamic Disease 44 0.032
496
HYP077 Hypertrichosis 44 0.032
497
LYM009 Lymphocytic Choriomeningitis 43 0.032
498
MTS001 Mutism 43 0.032
499
c FTL006 Fetal Alcohol Spectrum Disorder 43 0.032
500
YNS002 Yunis-Varon Syndrome 43 0.032
501
CRN025 Corneal Dystrophy 42 0.032
502
c L2H001 L-2-Hydroxyglutaric Aciduria 42 0.032
503
P HYP009 Hypertrophic Pyloric Stenosis 42 0.032
504
MNN032 Meningococcal Meningitis 42 0.032
505
c HRD169 Hereditary Colorectal Cancer 42 0.032
506
P MTC004 Mitochondrial Encephalomyopathy 42 0.032
507
c LKD015 Leukodystrophy, Hypomyelinating, 3 42 0.032
508
OBS015 Obesity, Hyperphagia, and Developmental Delay 41 0.032
509
NRL004 Neuroleptic Malignant Syndrome 41 0.032
510
AYM001 Ayme-Gripp Syndrome 41 0.032
511
WBR001 Weber Syndrome 41 0.032
512
P CNG024 Congenital Nystagmus 40 0.032
513
NSP002 Nasopharyngitis 40 0.032
514
MRS004 Marshall-Smith Syndrome 40 0.032
515
OST022 Osteopathia Striata with Cranial Sclerosis 40 0.032
516
LRY029 Laryngomalacia 40 0.032
517
c PRX059 Peroxisome Biogenesis Disorder 1a 39 0.032
518
c OPT050 Opitz Gbbb Syndrome, Type Ii 39 0.032
519
c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38 0.032
520
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 38 0.032
521
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 38 0.032
522
NRP016 Neuropathy, Recurrent, with Pressure Palsies 38 0.032
523
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 38 0.032
524
CRV045 Cervical Intraepithelial Neoplasia 38 0.032
525
c HLP014 Holoprosencephaly-2 38 0.032
526
P SYN012 Synpolydactyly 38 0.032
527
TLP001 Talipes Equinovarus 38 0.032
528
P AXN001 Axonal Neuropathy 38 0.032
529
CDS002 Codas Syndrome 37 0.032
530
c CHR579 Chiari Malformation Type Ii 37 0.032
531
P OPT048 Opitz-Gbbb Syndrome 37 0.032
532
MTR007 Motor Peripheral Neuropathy 37 0.032
533
P ENC011 Encephalomyopathy 37 0.032
534
c SPN097 Spinocerebellar Ataxia 23 37 0.032
535
c CRB101 Cerebrooculofacioskeletal Syndrome 1 36 0.032
536
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 36 0.032
537
NTR005 Nutritional Deficiency Disease 36 0.032
538
c SPS095 Spastic Paraplegia 47, Autosomal Recessive 36 0.032
539
DVL001 Developmental Coordination Disorder 36 0.032
540
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.032
541
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 35 0.032
542
CHN065 Choanal Atresia, Posterior 35 0.032
543
P CLB027 Coloboma, Ocular 35 0.032
544
P LSS024 Lissencephaly with Cerebellar Hypoplasia 34 0.032
545
TRS002 Tarsal-Carpal Coalition Syndrome 34 0.032
546
c PNT034 Pontocerebellar Hypoplasia, Type 2e 34 0.032
547
c PLN017 Peeling Skin Syndrome 1 34 0.032
548
HYP231 Hypothalamic Hamartomas 34 0.032
549
c MCR261 Microphthalmia, Syndromic 2 34 0.032
550
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 34 0.032
551
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 34 0.032
552
P BND018 Band Heterotopia 34 0.032
553
c CNG439 Congenital Lymphedema 34 0.032
554
INF129 Infantile Cerebellar-Retinal Degeneration 33 0.032
555
SCH011 Schizotypal Personality Disorder 33 0.032
556
c DGT005 Digital Arthropathy-Brachydactyly, Familial 33 0.032
557
CRB001 Cerebral Lymphoma 33 0.032
558
PLY050 Polymicrogyria with Optic Nerve Hypoplasia 33 0.032
559
c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 33 0.032
560
c ACR088 Aicardi-Goutieres Syndrome 3 33 0.032
561
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 33 0.032
562
P WRB001 Warburg Micro Syndrome 33 0.032
563
c JBR004 Joubert Syndrome 2 33 0.032
564
P ATS049 Autism Susceptibility, X-Linked 2 33 0.032
565
CRN247 Corneal Dystrophy, Thiel-Behnke Type 32 0.032
566
c SPS096 Spastic Paraplegia 44, Autosomal Recessive 32 0.032
567
P CHR084 Chromosomal Disease 32 0.032
568
ORB007 Orbital Cyst 32 0.032
569
PST086 Posterior Cortical Atrophy 32 0.032
570
PRM056 Primrose Syndrome 32 0.032
571
HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 32 0.032
572
TRP006 Tarp Syndrome 32 0.032
573
SPT019 Septo-Optic Dysplasia Spectrum 32 0.032
574
c PLM044 Pulmonary Fibrosis, Familial 31 0.032
575
c PNT029 Pontocerebellar Hypoplasia Type 2d 31 0.032
576
c HLP011 Holoprosencephaly-7 31 0.032
577
KFM001 Kaufman Oculocerebrofacial Syndrome 31 0.032
578
P ATX024 Ataxia-Oculomotor Apraxia 3 31 0.032
579
P ATX010 Ataxia Neuropathy Spectrum 30 0.032
580
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 30 0.032
581
MLY006 Molybdenum Cofactor Deficiency a 30 0.032
582
ECH002 Echolalia 30 0.032
583
MTH047 Methanol Poisoning 30 0.032
584
c OPT051 Opitz Gbbb Syndrome, Type I 30 0.032
585
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 30 0.032
586
c SPS123 Spastic Paraplegia 32, Autosomal Recessive 30 0.032
587
c SPS101 Spastic Paraplegia 56, Autosomal Recessive 30 0.032
588
HRD005 Hard Palate Cancer 30 0.032
589
c MCR239 Microcephaly 5, Primary, Autosomal Recessive 30 0.032
590
LJN003 Lujan-Fryns Syndrome 30 0.032
591
c LSS010 Lissencephaly 4 30 0.032
592
c DYS039 Dyskeratosis Congenita Autosomal Dominant 29 0.032
593
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 29 0.032
594
CHR390 Chromosome 14q11-Q22 Deletion Syndrome 29 0.032
595
SPT016 Septopreoptic Holoprosencephaly 29 0.032
596
SRN002 Sirenomelia 29 0.032
597
MCR064 Microcephaly, Seizures, and Developmental Delay 28 0.032
598
c ADM005 Adams-Oliver Syndrome 1 28 0.032
599
SWY001 Swayback 28 0.032
600
ANT019 Anterograde Amnesia 28 0.032
601
c TRC101 Trichothiodystrophy 4, Nonphotosensitive 28 0.032
602
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 0.032
603
ASP024 Asparagine Synthetase Deficiency 28 0.032
604
c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 28 0.032
605
LCT005 Lacticacidemia Due to Pdx1 Deficiency 28 0.032
606
CHL109 Childhood Apraxia of Speech 28 0.032
607
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28 0.032
608
ANT007 Anterior Horn Cell Disease 27 0.032
609
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 27 0.032
610
P LNR015 Linear Skin Defects with Multiple Congenital Anomalies 27 0.032
611
WDS002 Woods Syndrome 27 0.032
612
INH011 Inherited Bone Marrow Failure Syndromes 27 0.032
613
SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 27 0.032
614
GBT001 Gaba-Transaminase Deficiency 27 0.032
615
END059 Endocrine-Cerebroosteodysplasia 27 0.032
616
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 27 0.032
617
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27 0.032
618
TRS012 Trisomy 22 27 0.032
619
MCR183 Microcephaly-Capillary Malformation Syndrome 27 0.032
620
c MCR252 Microphthalmia, Syndromic 5 27 0.032
621
c PNT014 Pontocerebellar Hypoplasia Type 5 26 0.032
622
c CNG389 Congenital Disorder of Glycosylation, Type Iim 26 0.032
623
c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26 0.032
624
CMB012 Combined Oxidative Phosphorylation Deficiency 1 26 0.032
625
EPL143 Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions 26 0.032
626
c PNT020 Pontocerebellar Hypoplasia Type 2b 26 0.032
627
RFM001 Roifman Syndrome 26 0.032
628
LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 26 0.032
629
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 26 0.032
630
MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 26 0.032
631
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25 0.032
632
c HLP009 Holoprosencephaly-9 25 0.032
633
c CRN256 Craniosynostosis 6 25 0.032
634
FRS007 Frias Syndrome 25 0.032
635
c MCK017 Meckel Syndrome 4 25 0.032
636
c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 25 0.032
637
c CNG416 Congenital Disorder of Glycosylation, Type Iy 25 0.032
638
c CNG190 Congenital Disorder of Glycosylation, Type Iib 25 0.032
639
c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 25 0.032
640
3HY006 3-Hydroxyisobutryl-Coa Hydrolase Deficiency 25 0.032
641
c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25 0.032
642
c JBR031 Joubert Syndrome 21 25 0.032
643
CPT005 Cpt Ii Deficiency, Lethal Neonatal 25 0.032
644
CMB009 Combined Sap Deficiency 25 0.032
645
ATM052 Autoimmune Disease 1 25 0.032
646
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 24 0.032
647
c PNT033 Pontocerebellar Hypoplasia, Type 10 24 0.032
648
c RTT008 Rett Syndrome, Congenital Variant 24 0.032
649
c HLP016 Holoprosencephaly 11 24 0.032
650
OCC011 Occipital Encephalocele 24 0.032
651
c CLR115 Ciliary Dyskinesia, Primary, 31 24 0.032
652
c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 24 0.032
653
MTC088 Mitochondrial Dna Depletion Syndrome 13 24 0.032
654
c CNG201 Congenital Disorder of Glycosylation, Type Iij 24 0.032
655
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 24 0.032
656
c EPL028 Epileptic Encephalopathy, Early Infantile, 5 24 0.032
657
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 24 0.032
658
PNT009 Pontine Tegmental Cap Dysplasia 24 0.032
659
c RNG022 Ring Chromosome 6 23 0.032
660
c SPS135 Spastic Paraplegia 63 23 0.032
661
c MNT143 Mental Retardation, Autosomal Dominant 13 23 0.032
662
SCH024 Schinzel Giedion Syndrome 23 0.032
663
c CRD167 Cardiofaciocutaneous Syndrome 4 23 0.032
664
CHR366 Chromosome 5p13 Duplication Syndrome 23 0.032
665
c MNT156 Mental Retardation, Autosomal Dominant 14 23 0.032
666
PRV007 Periventricular Heterotopia with Microcephaly 23 0.032
667
MLY005 Molybdenum Cofactor Deficiency B 22 0.032
668
LKN007 Leukonychia Totalis 22 0.032
669
IMM121 Immunodeficiency 26, with or Without Neurologic Abnormalities 22 0.032
670
c LKD020 Leukodystrophy, Hypomyelinating, 10 22 0.032
671
GLT011 Glutamine Deficiency, Congenital 22 0.032
672
NLX003 Neu-Laxova Syndrome 2 22 0.032
673
c ORF033 Orofaciodigital Syndrome V 22 0.032
674
MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 22 0.032
675
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 22 0.032
676
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 22 0.032
677
EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 21 0.032
678
c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 21 0.032
679
CMB046 Combined Oxidative Phosphorylation Deficiency 11 21 0.032
680
PLY104 Polymicrogyria with Seizures 21 0.032
681
c MCK026 Meckel Syndrome 12 21 0.032
682
WBB001 Webb-Dattani Syndrome 21 0.032
683
c BRT039 Baraitser-Winter Syndrome 2 21 0.032
684
ATX038 Ataxia and Polyneuropathy, Adult-Onset 21 0.032
685
c ORF036 Orofaciodigital Syndrome Xiv 21 0.032
686
CMB064 Combined Oxidative Phosphorylation Deficiency 24 21 0.032
687
CMB016 Combined Oxidative Phosphorylation Deficiency 5 21 0.032
688
BRN007 Brain Oligodendroglioma 21 0.032
689
BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 21 0.032
690
CHR566 Chromosome 1q21.1 Deletion Syndrome 21 0.032
691
c LKD016 Leukodystrophy, Hypomyelinating, 9 20 0.032
692
MNN022 Meningoencephalocele 20 0.032
693
MCR226 Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 20 0.032
694
SKT001 Sakati Syndrome 20 0.032
695
c RNG018 Ring Chromosome 22 20 0.032
696
c MCR314 Microcephaly 16, Primary, Autosomal Recessive 20 0.032
697
c EPL139 Epileptic Encephalopathy, Early Infantile, 28 20 0.032
698
VNM003 Van Maldergem Syndrome 1 20 0.032
699
c FML302 Familial Schizencephaly, Shh-Related 20 0.032
700
c LKD021 Leukodystrophy, Hypomyelinating, 11 20 0.032
701
c MNT235 Mental Retardation, Autosomal Dominant 37 20 0.032
702
CHR225 Chromosome 1q21.1 Duplication Syndrome 20 0.032
703
c MCR236 Microcephaly 13, Primary, Autosomal Recessive 20 0.032
704
CMB048 Combined Oxidative Phosphorylation Deficiency 15 19 0.032
705
c PNT039 Pontocerebellar Hypoplasia, Type 7 19 0.032
706
VNM002 Van Maldergem Syndrome 2 19 0.032
707
BFD001 Bifid Nose 19 0.032
708
c HYD040 Hydrolethalus Syndrome 2 19 0.032
709
c MNT159 Mental Retardation, Autosomal Dominant 19 19 0.032
710
SCH037 Schinzel-Giedion Midface Retraction Syndrome 19 0.032
711
BRK011 Brooks-Wisniewski-Brown Syndrome 19 0.032
712
CMB051 Combined Oxidative Phosphorylation Deficiency 21 19 0.032
713
c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 18 0.032
714
c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 18 0.032
715
SSR001 Ssr4-Cdg 18 0.032
716
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 18 0.032
717
P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 18 0.032
718
MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 17 0.032
719
c TRC103 Trichothiodystrophy 5, Nonphotosensitive 17 0.032
720
CHR596 Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included 17 0.032
721
CRN264 Craniosynostosis with Fibular Aplasia 17 0.032
722
PTC006 Potocki-Luspski Syndrome 17 0.032
723
BSL040 Basel-Vanagait-Smirin-Yosef Syndrome 17 0.032
724
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 17 0.032
725
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 17 0.032
726
EPG004 Epignathus 17 0.032
727
c MCR320 Microcephaly 17, Primary, Autosomal Recessive 17 0.032
728
c CNG100 Congenital Herpes Simplex 16 0.032
729
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 16 0.032
730
MSL004 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis 16 0.032
731
CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 16 0.032
732
MNT256 Mental Retardation, Buenos Aires Type 15 0.032
733
c BNG076 Benign Exophthalmos Syndrome 15 0.032
734
CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 15 0.032
735
MCR310 Microgastria-Limb Reduction Defects Association 14 0.032
736
CRB164 Cerebrooculonasal Syndrome 14 0.032
737
c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 14 0.032
738
SPN350 Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 14 0.032
739
CNG067 Congenital Cystic Eye 13 0.032
740
CRN083 Craniofacial Dyssynostosis 13 0.032
741
CHR223 Chromosome 1q Deletion 13 0.032
742
MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 13 0.032
743
c SYN080 Syndromic X-Linked Intellectual Disability 34 13 0.032
744
5Q1001 5q14.3 Microdeletion Syndrome 13 0.032
745
c SPS168 Spastic Paraplegia 56 12 0.032
746
c HYP702 Hypomyelinating Leukodystrophy 12 12 0.032
747
TMM013 Tmem70 Defect 12 0.032
748
c LSS035 Lissencephaly 8 12 0.032
749
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 12 0.032
750
c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 12 0.032
751
c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 12 0.032
752
HDZ001 Hadziselimovic Syndrome 12 0.032
753
VNG001 Vangl1-Related Neural Tube Defect 12 0.032
754
ISL075 Isolated Pierre Robin Sequence 12 0.032
755
INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 12 0.032
756
TYS007 Tyshchenko Syndrome 11 0.032
757
c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11 0.032
758
FML160 Familial Spastic Paralysis 10 0.032
759
c PRD024 Prader-Willi Syndrome Due to Translocation 10 0.032
760
THK001 Thakker-Donnai Syndrome 9 0.032
761
MNT268 Mental Retardation, X-Linked, Syndromic, Borck Type 9 0.032
762
FRN041 Frontonasal Dysplasia with Alopecia and Genital Anomaly 8 0.032
763
ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 8 0.032
764
HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 8 0.032
765
FTL010 Fetal Akinesia Syndrome X-Linked 8 0.032