Search results for psychomotor disease

1156 hits were found for psychomotor disease

# Family MCID Name MIFTS Score
1
INF150 Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5 1.413
2
MSS001 Masa Syndrome 46 1.397
3
P ALZ034 Alzheimer Disease 95 0.140
4
P HRT032 Heart Disease 80 0.125
5
AGN016 Aging 65 0.090
6
P THY032 Thyroiditis 56 0.089
7
NRN002 Neuronitis 43 0.087
8
DMN002 Dementia 68 0.082
9
VSC007 Vascular Disease 71 0.082
10
P ANR048 Aniridia 1 68 0.081
11
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.079
12
P ENC018 Encephalopathy 58 0.078
13
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.075
14
P HYP265 Hypotonia 40 0.075
15
ANR038 Anorexia Nervosa 1 21 0.074
16
BLD137 Blood Group--Ahonen 17 0.074
17
RSP006 Respiratory System Disease 63 0.074
18
CRB009 Cerebritis 41 0.071
19
P HYP086 Hypothyroidism 62 0.070
20
P EPL164 Epilepsy 70 0.070
21
RTN023 Retinitis 52 0.070
22
ALR002 Al-Raqad Syndrome 30 0.069
23
c BLD140 Blood Group, I System 37 0.066
24
P ART022 Arthritis 77 0.065
25
P HPT021 Hepatitis 75 0.065
26
P GRV001 Graves' Disease 62 0.065
27
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.065
28
P MCR010 Microcephaly 57 0.063
29
P TYS001 Tay-Sachs Disease 71 0.063
30
BSL008 Basal Ganglia Disease 44 0.062
31
PLY030 Polydactyly Cleft Lip Palate Psychomotor Retardation 10 0.062
32
P DBT009 Diabetes Mellitus 72 0.061
33
ANR016 Aniridia Renal Agenesis Psychomotor Retardation 10 0.059
34
ANX010 Anxiety 72 0.059
35
ISC004 Ischemia 66 0.059
36
c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67 0.058
37
P LKM002 Leukemia 75 0.057
38
P MYM013 Moyamoya Disease 1 50 0.057
39
CRT072 Creutzfeldt-Jakob Disease 65 0.056
40
SKN016 Skin Disease 68 0.055
41
P PLZ001 Pelizaeus-Merzbacher Disease 68 0.055
42
HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26 0.055
43
HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 25 0.055
44
P BRS047 Breast Cancer 100 0.054
45
ALP046 Alport Syndrome, X-Linked 74 0.054
46
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.052
47
HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 23 0.052
48
SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 21 0.052
49
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 18 0.052
50
MTR014 Motor Neuron Disease 62 0.052
51
SND001 Sandhoff Disease 65 0.052
52
SPS057 Spasticity 41 0.051
53
P LPS004 Lupus Erythematosus 69 0.050
54
P NRV007 Nervous System Disease 75 0.050
55
SLP005 Sleep Disorder 59 0.050
56
HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 22 0.050
57
P SCH015 Schizophrenia 71 0.050
58
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.049
59
P MSC005 Muscular Dystrophy 66 0.049
60
c SYS001 Systemic Lupus Erythematosus 86 0.048
61
ACR006 Aceruloplasminemia 65 0.048
62
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 33 0.048
63
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.047
64
BRS051 Breast Disease 67 0.047
65
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.047
66
ANR040 Aneurysm 61 0.046
67
MNT002 Mental Depression 60 0.046
68
P MPL001 Maple Syrup Urine Disease 66 0.046
69
P CTR002 Cataract 60 0.046
70
P NRP001 Neuropathy 63 0.046
71
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.046
72
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.046
73
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.046
74
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.046
75
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.046
76
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.046
77
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.046
78
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.046
79
c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26 0.046
80
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29 0.045
81
CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 21 0.045
82
CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 21 0.045
83
P MYP004 Myopathy 69 0.045
84
P HNT016 Huntington Disease 78 0.045
85
P PNM007 Pneumonia 70 0.045
86
P SLP006 Sleep Apnea 65 0.045
87
MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 22 0.044
88
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 57 0.044
89
ALX003 Alexander Disease 58 0.044
90
P PNC044 Pancreatitis 64 0.044
91
c CNG415 Congenital Disorder of Glycosylation, Type Ia 53 0.044
92
P MCP040 Mucopolysaccharidosis-Plus Syndrome 61 0.044
93
c HMP029 Hemophilia a 69 0.044
94
3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 38 0.043
95
HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 21 0.043
96
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.043
97
P MCL013 Mucolipidosis Iv 67 0.043
98
c CNG497 Congenital Disorder of Glycosylation, Type Iio 26 0.043
99
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 40 0.043
100
MLN003 Melancholia 39 0.043
101
CHN070 Cohen-Gibson Syndrome 51 0.042
102
ADN022 Adenylosuccinase Deficiency 37 0.042
103
HSH003 Hashimoto Thyroiditis 67 0.042
104
c MNT246 Mental Retardation, Autosomal Dominant 38 23 0.042
105
CMB026 Combined Oxidative Phosphorylation Deficiency 12 29 0.042
106
P PLM037 Pulmonary Hypertension 79 0.042
107
c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40 0.041
108
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38 0.041
109
CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 24 0.041
110
MTC056 Mitochondrial Dna Depletion Syndrome 4a 49 0.041
111
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 32 0.041
112
AYM001 Ayme-Gripp Syndrome 40 0.041
113
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27 0.041
114
c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 20 0.041
115
HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 14 0.041
116
VSC011 Vasculitis 66 0.041
117
P MRN003 Marinesco-Sjogren Syndrome 38 0.041
118
c 3MT015 3-Methylglutaconic Aciduria, Type I 44 0.040
119
c CNG006 Congenital Hypothyroidism 62 0.040
120
P ALP008 Alopecia 56 0.040
121
AMN007 Aminoacylase 1 Deficiency 30 0.040
122
c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22 0.040
123
P LNG032 Lung Cancer 99 0.040
124
LGH007 Leigh Syndrome 68 0.040
125
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 33 0.040
126
c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26 0.040
127
P DYS154 Dystonia 61 0.040
128
P TRM003 Tremor 54 0.040
129
c MCR228 Microphthalmia, Syndromic 13 24 0.039
130
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 38 0.039
131
c SZR022 Seizures, Benign Familial Neonatal, 1 39 0.039
132
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24 0.039
133
c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27 0.039
134
RHM028 Rheumatic Heart Disease 54 0.039
135
c ORF034 Orofaciodigital Syndrome Vi 43 0.039
136
c LKD021 Leukodystrophy, Hypomyelinating, 11 22 0.039
137
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 34 0.039
138
P ART023 Arthropathy 68 0.039
139
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26 0.039
140
IRN002 Iron Metabolism Disease 45 0.039
141
c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 36 0.039
142
c CNG504 Congenital Disorder of Glycosylation, Type Iip 24 0.039
143
P PLY006 Polydactyly 57 0.038
144
c CNG192 Congenital Disorder of Glycosylation, Type Ik 30 0.038
145
c ACR084 Aicardi-Goutieres Syndrome 7 23 0.038
146
ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 18 0.038
147
P LTR001 Lateral Sclerosis 58 0.038
148
CLF027 Cleft Palate, Isolated 61 0.038
149
c PNT050 Pontocerebellar Hypoplasia, Type 11 22 0.038
150
c JBR035 Joubert Syndrome 24 22 0.038
151
c JBR026 Joubert Syndrome 15 21 0.038
152
c JBR036 Joubert Syndrome 25 20 0.038
153
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.038
154
P PNT019 Pontocerebellar Hypoplasia 41 0.038
155
LYS012 Lysosomal Acid Lipase Deficiency 60 0.038
156
JNT002 Joint Disorders 60 0.038
157
c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21 0.038
158
c GM1004 Gm1-Gangliosidosis, Type I 41 0.038
159
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 26 0.037
160
GNT031 Genitopatellar Syndrome 43 0.037
161
FRN006 Frontotemporal Dementia 70 0.037
162
c CNG198 Congenital Disorder of Glycosylation, Type Il 28 0.037
163
c ACR088 Aicardi-Goutieres Syndrome 3 33 0.037
164
c PNT035 Pontocerebellar Hypoplasia, Type 1c 27 0.037
165
c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28 0.037
166
APN008 Apnea, Obstructive Sleep 67 0.037
167
END040 Endogenous Depression 53 0.037
168
IRN001 Iron Deficiency Anemia 55 0.037
169
c CNG412 Congenital Disorder of Glycosylation, Type Ii 47 0.037
170
c CNG196 Congenital Disorder of Glycosylation, Type Ic 29 0.037
171
HPT082 Hepatic Adenomas, Familial 52 0.037
172
MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 23 0.037
173
DFC004 Deficiency Anemia 62 0.036
174
c INF065 Infantile Hypotonia 20 0.036
175
SPS003 Spastic Diplegia 55 0.036
176
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32 0.036
177
c CNG188 Congenital Disorder of Glycosylation, Type if 29 0.036
178
P PHS005 Peho Syndrome 36 0.036
179
c MNT296 Mental Retardation, X-Linked, Syndromic 34 25 0.036
180
c LKD016 Leukodystrophy, Hypomyelinating, 9 22 0.036
181
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36 0.036
182
c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20 0.036
183
c LKD020 Leukodystrophy, Hypomyelinating, 10 23 0.036
184
c CNG498 Congenital Disorder of Glycosylation, Type Iin 24 0.036
185
c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24 0.036
186
P MJR001 Major Depressive Disorder 70 0.036
187
VCS001 Vici Syndrome 46 0.036
188
c MYS065 Myasthenic Syndrome, Congenital, 18 21 0.036
189
P RNG031 Ring Chromosome Y Syndrome 29 0.036
190
P RTN016 Retinal Degeneration 56 0.035
191
PHS023 Phosphoserine Aminotransferase Deficiency 31 0.035
192
P FCS002 Fucosidosis 59 0.035
193
MLT157 Multiple System Atrophy 1 65 0.035
194
VTM002 Vitamin B12 Deficiency 46 0.035
195
NRR002 Norrie Disease 61 0.035
196
c CNG383 Congenital Disorder of Glycosylation, Type Iik 28 0.035
197
c SPS095 Spastic Paraplegia 47, Autosomal Recessive 41 0.035
198
c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38 0.035
199
ASP024 Asparagine Synthetase Deficiency 31 0.035
200
STR020 Strabismus 55 0.035
201
c MNT210 Mental Retardation, Autosomal Recessive 42 25 0.035
202
c MNT221 Mental Retardation, Autosomal Recessive 44 21 0.035
203
c MNT287 Mental Retardation, Autosomal Recessive 57 20 0.035
204
PLY110 Polymicrogyria, Bilateral Temporooccipital 32 0.035
205
CNS004 Constipation 57 0.035
206
P JBR020 Joubert Syndrome 1 68 0.035
207
GNG013 Gingivitis 64 0.035
208
c PNT030 Pontocerebellar Hypoplasia, Type 8 25 0.035
209
ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 10 0.034
210
ADN018 Adenoma 63 0.034
211
ACR008 Acrocallosal Syndrome 56 0.034
212
c PNT039 Pontocerebellar Hypoplasia, Type 7 25 0.034
213
ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 20 0.034
214
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36 0.034
215
c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20 0.034
216
P RNL100 Renal Hypodysplasia/aplasia 1 57 0.034
217
SLT014 Salt and Pepper Developmental Regression Syndrome 37 0.034
218
c MNT270 Mental Retardation, Autosomal Recessive 53 23 0.034
219
c EPL182 Epileptic Encephalopathy, Early Infantile, 54 20 0.034
220
SKN027 Skin Conditions 48 0.034
221
c PNT032 Pontocerebellar Hypoplasia, Type 9 27 0.034
222
PRP016 Paraplegia 53 0.034
223
P ENC004 Encephalitis 66 0.034
224
PLY024 Polymicrogyria 36 0.034
225
P CTS001 Cutis Laxa 62 0.034
226
c JBR031 Joubert Syndrome 21 24 0.034
227
c CNG403 Congenital Disorder of Glycosylation, Type Ix 29 0.033
228
c EPL169 Epileptic Encephalopathy, Early Infantile, 36 49 0.033
229
c 3MT023 3-Methylglutaconic Aciduria, Type Ix 17 0.033
230
P RTT002 Rett Syndrome 82 0.033
231
c LSS035 Lissencephaly 8 21 0.033
232
PSY004 Psychotic Disorder 72 0.033
233
P MSC003 Muscular Atrophy 55 0.033
234
c EPL024 Epileptic Encephalopathy, Early Infantile, 12 21 0.033
235
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 59 0.033
236
c ORF046 Orofaciodigital Syndrome Xvi 21 0.033
237
PRP030 Purpura 61 0.033
238
MVL001 Mevalonic Aciduria 57 0.033
239
CLF001 Cleft Lip 54 0.033
240
RHM001 Rheumatic Fever 59 0.033
241
P HYP076 Hyperthyroidism 56 0.033
242
c CNG416 Congenital Disorder of Glycosylation, Type Iy 32 0.033
243
c MNT295 Mental Retardation, X-Linked, Syndromic 33 25 0.033
244
c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22 0.033
245
MSC157 Muscular Dystrophy, Duchenne Type 74 0.033
246
c MNT227 Mental Retardation, Autosomal Recessive 46 20 0.033
247
c MNT272 Mental Retardation, Autosomal Dominant 41 18 0.033
248
c MNT275 Mental Retardation, Autosomal Recessive 60 19 0.033
249
P NRN021 Neuronal Ceroid Lipofuscinosis 62 0.033
250
3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 28 0.033
251
HYP266 Hypoxia 61 0.033
252
c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25 0.033
253
c CNG185 Congenital Disorder of Glycosylation, Type Iig 23 0.033
254
MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 31 0.032
255
c PRV018 Periventricular Nodular Heterotopia 7 21 0.032
256
CRD119 Cardiac Arrest 63 0.032
257
P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 38 0.032
258
c LSS025 Lissencephaly 5 24 0.032
259
P RTN008 Retinitis Pigmentosa 81 0.032
260
c PRX045 Peroxisome Biogenesis Disorder 1b 57 0.032
261
c CNG187 Congenital Disorder of Glycosylation, Type Iid 27 0.032
262
MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 29 0.032
263
P MNT198 Mental Retardation, X-Linked 98 23 0.032
264
c MNN047 Mannosidosis, Alpha B, Lysosomal 63 0.032
265
c CNG208 Congenital Disorder of Glycosylation, Type Iic 42 0.032
266
c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27 0.032
267
ADR023 Adrenomyodystrophy 33 0.032
268
CRB037 Cerebral Palsy 70 0.032
269
P DLT002 Dilated Cardiomyopathy 76 0.032
270
CRB045 Cerebellar Hypoplasia 48 0.032
271
CMB054 Combined Oxidative Phosphorylation Deficiency 23 22 0.032
272
RHM035 Rheumatic Fever-Related Antigen 34 0.032
273
c CNG193 Congenital Disorder of Glycosylation, Type Ip 24 0.032
274
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28 0.032
275
c SZR014 Seizures, Benign Familial Infantile, 1 25 0.032
276
ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 23 0.032
277
c LKD023 Leukodystrophy, Hypomyelinating, 12 22 0.032
278
c CNG200 Congenital Disorder of Glycosylation, Type Iq 31 0.032
279
CYT008 Cytomegalovirus Infection 57 0.032
280
PRP001 Propionic Acidemia 63 0.032
281
c CNG206 Congenital Disorder of Glycosylation, Type Ie 40 0.032
282
P LRY019 Laryngitis 57 0.032
283
INF129 Infantile Cerebellar-Retinal Degeneration 36 0.032
284
HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 29 0.032
285
c LKD022 Leukodystrophy, Hypomyelinating, 13 26 0.032
286
SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 25 0.032
287
LPD016 Lipoid Proteinosis of Urbach and Wiethe 54 0.032
288
c CNG195 Congenital Disorder of Glycosylation, Type Id 33 0.032
289
c CNG414 Congenital Disorder of Glycosylation, Type Iil 25 0.032
290
c CNG388 Congenital Disorder of Glycosylation, Type Iw 25 0.031
291
c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25 0.031
292
c CNG379 Congenital Disorder of Glycosylation, Type It 34 0.031
293
CRD002 Cri-Du-Chat Syndrome 47 0.031
294
PHS021 Phosphoglycerate Dehydrogenase Deficiency 28 0.031
295
3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 26 0.031
296
HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 22 0.031
297
c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21 0.031
298
DWN001 Down Syndrome 70 0.031
299
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 33 0.031
300
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 29 0.031
301
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 27 0.031
302
WSM002 Waisman Syndrome 25 0.031
303
c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 21 0.031
304
P END033 Endocarditis 58 0.031
305
c MCP050 Mucopolysaccharidosis, Type Ii 64 0.031
306
P SCL018 Scoliosis 56 0.031
307
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 40 0.031
308
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 26 0.031
309
CMB017 Combined Oxidative Phosphorylation Deficiency 6 26 0.031
310
HYD030 Hydroxykynureninuria 24 0.031
311
CMB018 Combined Oxidative Phosphorylation Deficiency 7 22 0.031
312
c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 21 0.031
313
DMN031 Dementia, Lewy Body 66 0.031
314
c EPL135 Epileptic Encephalopathy, Early Infantile, 27 21 0.031
315
GLC006 Galactosemia 64 0.031
316
c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19 0.031
317
GTR002 Goiter 53 0.031
318
CRB081 Cerebellar Ataxia, Cayman Type 33 0.031
319
MTC060 Mitochondrial Dna Depletion Syndrome 9 30 0.031
320
c JBR040 Joubert Syndrome 30 19 0.031
321
WHP001 Whipple Disease 50 0.031
322
c CNG201 Congenital Disorder of Glycosylation, Type Iij 27 0.031
323
c CNG378 Congenital Disorder of Glycosylation, Type Ir 26 0.031
324
c CNG386 Congenital Disorder of Glycosylation, Type Iu 25 0.031
325
c ATM011 Autoimmune Hepatitis 63 0.031
326
P HMP007 Hemophilia 61 0.031
327
RNL105 Renal Agenesis, Unilateral 35 0.031
328
c SZR023 Seizures, Benign Familial Neonatal, 2 31 0.031
329
CHD004 Chudley-Mccullough Syndrome 30 0.031
330
HYP646 Hypomagnesemia, Seizures, and Mental Retardation 17 0.031
331
c MNT241 Mental Retardation, Autosomal Dominant 32 23 0.031
332
P DNT020 Dent Disease 1 55 0.031
333
P HRP006 Herpes Simplex 70 0.030
334
P ATS308 Autosomal Dominant Cerebellar Ataxia 47 0.030
335
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.030
336
GLY094 Glycine Encephalopathy with Normal Serum Glycine 33 0.030
337
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 25 0.030
338
ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 23 0.030
339
CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 21 0.030
340
MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 21 0.030
341
MTC079 Mitochondrial Pyruvate Carrier Deficiency 18 0.030
342
c EPL130 Epileptic Encephalopathy, Early Infantile, 26 19 0.030
343
P CNG411 Congenital Disorder of Glycosylation, Type in 55 0.030
344
HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 23 0.030
345
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 22 0.030
346
c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 20 0.030
347
INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 20 0.030
348
QZM001 Qazi Markouizos Syndrome 13 0.030
349
MSC033 Muscle Disorders 53 0.030
350
RST001 Restless Legs Syndrome 54 0.030
351
GTL001 Gitelman Syndrome 62 0.030
352
BNS003 Binswanger's Disease 43 0.030
353
P LSS002 Lissencephaly 49 0.030
354
c NMN013 Niemann-Pick Disease, Type a 59 0.030
355
ENC046 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy 20 0.030
356
SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 19 0.030
357
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 9 0.030
358
OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5 0.030
359
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53 0.030
360
c SPS071 Spastic Paraplegia 48, Autosomal Recessive 34 0.030
361
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33 0.030
362
NRX001 Neuroaxonal Dystrophy 40 0.030
363
c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25 0.030
364
c MCL062 Mucolipidosis Ii Alpha/beta 58 0.030
365
VRH001 Verheij Syndrome 21 0.030
366
CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 20 0.030
367
EPL166 Epilepsy, Early-Onset, Vitamin B6-Dependent 18 0.030
368
DRR014 Darier-White Disease 60 0.030
369
c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 39 0.030
370
THY030 Thyroid Gland Disease 51 0.030
371
MLT135 Multiple Sulfatase Deficiency 54 0.030
372
c MCK028 Meckel Syndrome 13 20 0.030
373
MSC004 Muscle Tissue Disease 39 0.029
374
c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 36 0.029
375
c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26 0.029
376
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 43 0.029
377
HRT037 Heart and Brain Malformation Syndrome 25 0.029
378
GBR007 Gabriele-De Vries Syndrome 14 0.029
379
LYM004 Lymphoid Interstitial Pneumonia 47 0.029
380
c EPL038 Epileptic Encephalopathy, Early Infantile, 8 21 0.029
381
P HML002 Hemolytic Anemia 62 0.029
382
ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 58 0.029
383
HDC001 Headache 55 0.029
384
CHR073 Choreatic Disease 40 0.029
385
MTC027 Mitochondrial Trifunctional Protein Deficiency 55 0.029
386
c GM1005 Gm1-Gangliosidosis, Type Ii 36 0.029
387
CMP006 Complex Partial Epilepsy 30 0.029
388
INT314 Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold 17 0.029
389
MCR340 Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate 17 0.029
390
NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures 13 0.029
391
P DYS021 Dysautonomia 47 0.029
392
HSD004 Hsd10 Mitochondrial Disease 30 0.029
393
c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 36 0.029
394
P ANT006 Antiphospholipid Syndrome 59 0.029
395
BLD163 Blood Group, Dombrock System 23 0.029
396
APH002 Aphasia 58 0.029
397
c NRD016 Neurodegeneration with Brain Iron Accumulation 6 36 0.029
398
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34 0.029
399
c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 26 0.029
400
c JBR016 Joubert Syndrome 10 20 0.029
401
P HYP014 Hyperuricemia 54 0.029
402
c CWD006 Cowden Syndrome 1 54 0.029
403
c JBR030 Joubert Syndrome 22 21 0.028
404
SHS001 Shashi-Pena Syndrome 19 0.028
405
INT313 Intellectual Developmental Disorder with Cardiac Arrhythmia 16 0.028
406
MYL073 Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 16 0.028
407
CMB078 Combined Oxidative Phosphorylation Deficiency 32 14 0.028
408
P HYD006 Hydrocephalus 68 0.028
409
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 56 0.028
410
c PNT033 Pontocerebellar Hypoplasia, Type 10 31 0.028
411
c LSS010 Lissencephaly 4 31 0.028
412
HYP066 Hyperglycemia 64 0.028
413
c OPT064 Optic Atrophy 11 24 0.028
414
ALL001 Allan-Herndon-Dudley Syndrome 49 0.028
415
MTC020 Mitochondrial Complex Ii Deficiency 48 0.028
416
SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 45 0.028
417
ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 39 0.028
418
c LKD008 Leukodystrophy, Hypomyelinating, 4 37 0.028
419
c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 34 0.028
420
c MNT280 Mental Retardation, Autosomal Dominant 43 24 0.028
421
c MNT242 Mental Retardation, Autosomal Dominant 40 22 0.028
422
c MNT285 Mental Retardation, Autosomal Recessive 58 21 0.028
423
c MNT177 Mental Retardation, Autosomal Recessive 27 20 0.028
424
c MNT236 Mental Retardation, Autosomal Dominant 39 19 0.028
425
c MNT225 Mental Retardation, Autosomal Recessive 47 19 0.028
426
c MNT325 Mental Retardation, Autosomal Recessive 61 18 0.028
427
c MNT286 Mental Retardation, Autosomal Dominant 45 17 0.028
428
c MNT324 Mental Retardation, Autosomal Dominant 49 16 0.028
429
c MNT323 Mental Retardation, Autosomal Dominant 48 15 0.028
430
c MNT329 Mental Retardation, Autosomal Dominant 53 15 0.028
431
c MNT330 Mental Retardation, Autosomal Dominant 54 15 0.028
432
EST005 Esotropia 43 0.028
433
c ACR116 Aicardi-Goutieres Syndrome 1 43 0.028
434
CTR172 Citrullinemia, Classic 58 0.028
435
c SPS213 Spastic Paraplegia 75, Autosomal Recessive 24 0.028
436
c SPS104 Spastic Paraplegia 53, Autosomal Recessive 23 0.028
437
c ACR091 Aicardi-Goutieres Syndrome 4 31 0.028
438
EXP004 Exophthalmos 50 0.028
439
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52 0.028
440
PYR037 Pyruvate Carboxylase Deficiency 38 0.028
441
AMY087 Amyloidosis, Hereditary, Transthyretin-Related 57 0.028
442
c TRC078 Trichohepatoenteric Syndrome 2 34 0.028
443
MCR013 Microphthalmia 61 0.028
444
MYC006 Mycosis Fungoides 73 0.028
445
P TRC086 Trichohepatoenteric Syndrome 1 54 0.028
446
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.028
447
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 40 0.028
448
c JBR015 Joubert Syndrome 6 21 0.028
449
c LBR014 Leber Congenital Amaurosis 4 48 0.027
450
GLY014 Glycerol Kinase Deficiency 47 0.027
451
c MNT298 Mental Retardation, X-Linked, Syndromic, 35 23 0.027
452
c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21 0.027
453
c JBR011 Joubert Syndrome 7 23 0.027
454
c CFF006 Coffin-Siris Syndrome 5 21 0.027
455
P PLY018 Polycythemia 60 0.027
456
c EPL191 Epileptic Encephalopathy, Early Infantile, 48 21 0.027
457
c EPL211 Epileptic Encephalopathy, Early Infantile, 56 17 0.027
458
c EPL215 Epileptic Encephalopathy, Early Infantile, 58 16 0.027
459
c EPL213 Epileptic Encephalopathy, Early Infantile, 57 14 0.027
460
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.027
461
PLY117 Polymicrogyria, Bilateral Frontoparietal 30 0.027
462
c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 26 0.027
463
c JBR013 Joubert Syndrome 8 20 0.027
464
c GLL040 Galloway-Mowat Syndrome 3 18 0.027
465
c GLL041 Galloway-Mowat Syndrome 4 18 0.027
466
c GLL042 Galloway-Mowat Syndrome 5 17 0.027
467
MYC033 Myoclonus 40 0.027
468
BNF002 Bone Fracture 56 0.027
469
P BLD124 Bleeding Disorder, Platelet-Type, 11 38 0.027
470
FTL009 Fetal Akinesia Deformation Sequence 54 0.027
471
TMP001 Temporal Lobe Epilepsy 54 0.027
472
c PTT029 Pitt-Hopkins-Like Syndrome 1 25 0.027
473
c MNT207 Mental Retardation, X-Linked, Syndromic 32 21 0.027
474
c EPL154 Epilepsy, Progressive Myoclonic, 9 21 0.027
475
MPL011 Maple Syrup Urine Disease, Mild Variant 12 0.027
476
MYL001 Myelitis 52 0.027
477
c CNG204 Congenital Disorder of Glycosylation, Type Iih 30 0.027
478
DBT083 Diabetes Mellitus, Permanent Neonatal 62 0.027
479
c CNG199 Congenital Disorder of Glycosylation, Type Im 30 0.027
480
c CNG209 Congenital Disorder of Glycosylation, Type Iif 25 0.027
481
c CNG203 Congenital Disorder of Glycosylation, Type Iii 23 0.027
482
c PNT034 Pontocerebellar Hypoplasia, Type 2e 41 0.027
483
c GLL038 Galloway-Mowat Syndrome 1 37 0.027
484
c JBR004 Joubert Syndrome 2 28 0.027
485
c JBR025 Joubert Syndrome 17 22 0.027
486
c CRN135 Cornelia De Lange Syndrome 3 21 0.027
487
c PRV016 Periventricular Nodular Heterotopia 6 18 0.027
488
c JBR022 Joubert Syndrome 20 18 0.027
489
HYP056 Hypoglycemia 62 0.027
490
P TRN034 Transverse Myelitis 53 0.027
491
c BRN108 Branchiootic Syndrome 1 47 0.027
492
MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42 0.027
493
P HYP769 Hyperlysinemia, Type I 38 0.027
494
c LSS037 Lissencephaly, X-Linked, 2 31 0.027
495
DYG001 Dyggve-Melchior-Clausen Disease 31 0.027
496
c MNT166 Mental Retardation, Autosomal Recessive 39 21 0.027
497
MTC007 Mitochondrial Complex I Deficiency 56 0.027
498
KRT009 Keratosis 53 0.027
499
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 40 0.027
500
c PRX089 Peroxisome Biogenesis Disorder 10b 18 0.027
501
P RTN024 Retinoblastoma 76 0.026
502
CHR066 Chronic Fatigue Syndrome 67 0.026
503
c MCP049 Mucopolysaccharidosis, Type Vii 64 0.026
504
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54 0.026
505
c MNT279 Mental Retardation, Autosomal Dominant 47 17 0.026
506
KHL003 Kohlschutter-Tonz Syndrome 37 0.026
507
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 35 0.026
508
FMR004 Fumarase Deficiency 34 0.026
509
LGH003 Leigh Syndrome, French Canadian Type 28 0.026
510
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 24 0.026
511
CMB052 Combined Oxidative Phosphorylation Deficiency 20 19 0.026
512
NRD029 Neurodevelopmental Disorder with Involuntary Movements 18 0.026
513
P SJG008 Sjogren Syndrome 58 0.026
514
P RTN014 Retinal Artery Occlusion 45 0.026
515
c GCH016 Gaucher Disease, Type Ii 45 0.026
516
URM002 Uremia 52 0.026
517
LRN003 Learning Disability 49 0.026
518
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40 0.026
519
MCR257 Microcephaly, Amish Type 28 0.026
520
SCR025 Scarf Syndrome 26 0.026
521
ATH004 Athetosis 24 0.026
522
MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 18 0.026
523
PRG009 Progressive Multifocal Leukoencephalopathy 55 0.026
524
P HYP024 Hypoparathyroidism 55 0.026
525
PLC008 Placenta Disease 48 0.026
526
c MNT278 Mental Retardation, Autosomal Dominant 46 16 0.026
527
P CHR345 Chronic Pain 52 0.026
528
c CNG189 Congenital Disorder of Glycosylation, Type Ib 36 0.026
529
c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24 0.026
530
c MNT150 Mental Retardation, Autosomal Recessive 15 22 0.026
531
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 34 0.026
532
SCH071 Schaaf-Yang Syndrome 33 0.026
533
MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 23 0.026
534
c KLF005 Kleefstra Syndrome 2 12 0.026
535
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.026
536
c MNT145 Mental Retardation, Autosomal Recessive 5 24 0.026
537
P FNC043 Fanconi Anemia, Complementation Group E 52 0.026
538
ANS006 Anosognosia 27 0.026
539
c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26 0.026
540
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42 0.026
541
P EPL116 Epileptic Encephalopathy, Childhood-Onset 41 0.026
542
STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26 0.026
543
HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 22 0.026
544
MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 21 0.026
545
c MRD001 Marden Walker Like Syndrome 13 0.026
546
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 55 0.026
547
P ORF001 Orofaciodigital Syndrome 46 0.026
548
c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24 0.026
549
CMP010 Complex Regional Pain Syndrome 58 0.026
550
MYX004 Myxedema 44 0.026
551
P CRB059 Cerebellar Degeneration 40 0.026
552
c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24 0.026
553
P OCL002 Oculocutaneous Albinism 57 0.026
554
c MNT158 Mental Retardation, Autosomal Dominant 22 25 0.026
555
c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24 0.026
556
c MNT157 Mental Retardation, Autosomal Dominant 18 24 0.026
557
MHR002 Mohr Syndrome 33 0.026
558
MTC019 Metachromatic Leukodystrophy Due to Saposin B Deficiency 23 0.026
559
ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 23 0.026
560
CMB043 Combined Oxidative Phosphorylation Deficiency 9 22 0.026
561
PLY001 Polycythemia Vera 75 0.026
562
P GLM045 Glioma 61 0.026
563
c PNS012 Paine Syndrome 52 0.026
564
HYD061 Hydrocephalus, Normal-Pressure 47 0.025
565
WST001 West Syndrome 57 0.025
566
CLF004 Cleft Lip/palate 49 0.025
567
PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39 0.025
568
CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 38 0.025
569
OGD001 Ogden Syndrome 35 0.025
570
ATS238 Autosomal Recessive Cutis Laxa Type 2, Classic Type 32 0.025
571
GBT001 Gaba-Transaminase Deficiency 31 0.025
572
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 31 0.025
573
CHR523 Chromosome 15q11.2 Deletion Syndrome 29 0.025
574
MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 25 0.025
575
PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 22 0.025
576
c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 21 0.025
577
MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 21 0.025
578
LPY002 Lipoyltransferase 1 Deficiency 20 0.025
579
SPN113 Spinocerebellar Ataxia with Dysmorphism 19 0.025
580
WST005 West Nile Virus 58 0.025
581
CHR001 Churg-Strauss Syndrome 51 0.025
582
HYP080 Hypogonadism 54 0.025
583
c PNT045 Pontocerebellar Hypoplasia, Type 1a 31 0.025
584
c CNG194 Congenital Disorder of Glycosylation, Type Ig 26 0.025
585
CHR518 Chromosome 9p Deletion Syndrome 36 0.025
586
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 32 0.025
587
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 30 0.025
588
MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 30 0.025
589
MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 24 0.025
590
LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 24 0.025
591
GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 24 0.025
592
WHT019 White-Sutton Syndrome 23 0.025
593
BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 23 0.025
594
RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 20 0.025
595
NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 20 0.025
596
CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 20 0.025
597
ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 18 0.025
598
CMB051 Combined Oxidative Phosphorylation Deficiency 21 16 0.025
599
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 0.025
600
P BPL003 Bipolar Disorder 61 0.025
601
HNT002 Hantavirus Pulmonary Syndrome 57 0.025
602
P ATS364 Autism 70 0.025
603
c CNG205 Congenital Disorder of Glycosylation, Type Ij 30 0.025
604
c CNG207 Congenital Disorder of Glycosylation, Type Io 29 0.025
605
CHR667 Chromosome 3pter-P25 Deletion Syndrome 37 0.025
606
PNT009 Pontine Tegmental Cap Dysplasia 29 0.025
607
MRF019 Marfan Lipodystrophy Syndrome 24 0.025
608
c CRB099 Cerebrooculofacioskeletal Syndrome 3 20 0.025
609
XGB001 Xia-Gibbs Syndrome 19 0.025
610
c HYP593 Hyperphosphatasia with Mental Retardation Syndrome 5 17 0.025
611
GLL039 Galloway-Mowat Syndrome 2, X-Linked 14 0.025
612
c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24 0.025
613
P SZR006 Seizure Disorder 55 0.025
614
P LSS036 Lissencephaly, X-Linked, 1 45 0.025
615
c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20 0.025
616
c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 26 0.025
617
P THY023 Thymoma 65 0.025
618
c MTR051 Maternal Uniparental Disomy of Chromosome 1 33 0.025
619
VND005 Van Den Ende-Gupta Syndrome 29 0.025
620
CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 20 0.025
621
RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 20 0.025
622
MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 18 0.025
623
IMM147 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 18 0.025
624
CHR181 Chromosome 10p Deletion 12 0.025
625
SYM004 Say Meyer Syndrome 9 0.025
626
ABT001 Abetalipoproteinemia 64 0.025
627
P EHL001 Ehlers-Danlos Syndrome 61 0.025
628
P DST002 Distal Arthrogryposis 57 0.025
629
c PNT049 Pontocerebellar Hypoplasia, Type 2d 35 0.025
630
c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20 0.025
631
CRY008 Cryopyrin-Associated Periodic Syndrome 39 0.024
632
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25 0.024
633
c CTS041 Cutis Laxa, Autosomal Dominant 3 25 0.024
634
c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21 0.024
635
c EPL157 Epileptic Encephalopathy, Early Infantile, 30 19 0.024
636
3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 26 0.024
637
c PNT047 Pontocerebellar Hypoplasia, Type 2b 24 0.024
638
MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 22 0.024
639
IMM141 Immunodeficiency 49 21 0.024
640
MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 19 0.024
641
ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 18 0.024
642
INT310 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 17 0.024
643
DYS189 Dyskinesia, Seizures, and Intellectual Developmental Disorder 17 0.024
644
ALZ044 Alazami-Yuan Syndrome 17 0.024
645
MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 17 0.024
646
c EPL212 Epileptic Encephalopathy, Infantile or Early Childhood, 1 16 0.024
647
NRD030 Neurodegeneration, Childhood-Onset, with Brain Atrophy 14 0.024
648
LPS021 Lopes-Maciel-Rodan Syndrome 13 0.024
649
c CNG389 Congenital Disorder of Glycosylation, Type Iim 28 0.024
650
c EPL179 Epileptic Encephalopathy, Early Infantile, 52 21 0.024
651
c EPL139 Epileptic Encephalopathy, Early Infantile, 28 20 0.024
652
c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20 0.024
653
c EPL156 Epileptic Encephalopathy, Early Infantile, 33 19 0.024
654
c EPL194 Epileptic Encephalopathy, Early Infantile, 55 19 0.024
655
c CNG191 Congenital Disorder of Glycosylation, Type Iia 35 0.024
656
c CNG190 Congenital Disorder of Glycosylation, Type Iib 28 0.024
657
c MNT176 Mental Retardation, Autosomal Recessive 38 22 0.024
658
ANX004 Anoxia 49 0.024
659
ALB002 Albinism 45 0.024
660
c CNG197 Congenital Disorder of Glycosylation, Type Ih 35 0.024
661
c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 28 0.024
662
c JBR043 Joubert Syndrome 32 16 0.024
663
P DMN001 Diamond-Blackfan Anemia 70 0.024
664
c MNT212 Mental Retardation, Autosomal Dominant 26 26 0.024
665
c MNT216 Mental Retardation, Autosomal Recessive 41 21 0.024
666
MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 19 0.024
667
CNG512 Congenital Disorder of Glycosylation, Type Iaa 17 0.024
668
c PTR011 Paternal Uniparental Disomy of Chromosome 1 16 0.024
669
MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 16 0.024
670
NRD037 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 12 0.024
671
NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 12 0.024
672
NRD035 Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures 11 0.024
673
SCH032 Schrander-Stumpel Theunissen Hulsmans Syndrome 4 0.024
674
c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21 0.024
675
TCK001 Tick-Borne Encephalitis 55 0.024
676
P LCT001 Lactic Acidosis 51 0.024
677
P HMC002 Homocystinuria 50 0.024
678
P CRB048 Cerebral Cavernous Malformations 57 0.024
679
FNC009 Fanconi-Bickel Syndrome 53 0.024
680
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35 0.024
681
CHR103 Charge Syndrome 59 0.024
682
ASP002 Aspartylglucosaminuria 57 0.024
683
HYD012 Hydrops Fetalis 50 0.024
684
P MYC026 Myoclonus Epilepsy 35 0.024
685
THV001 Thauvin-Robinet-Faivre Syndrome 20 0.023
686
HRL006 Harel-Yoon Syndrome 18 0.023
687
ALK023 Al Kaissi Syndrome 17 0.023
688
MCR333 Microcephaly, Seizures, Spasticity, and Brain Calcifications 16 0.023
689
CHR499 Chromosome 16q22 Deletion Syndrome 16 0.023
690
STN014 Stankiewicz-Isidor Syndrome 15 0.023
691
SKR001 Skraban-Deardorff Syndrome 15 0.023
692
NRS003 Neurosyphilis 44 0.023
693
P FRG001 Fragile X Syndrome 69 0.023
694
PPL022 Papilloma 58 0.023
695
P PTS002 Ptosis 50 0.023
696
PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 40 0.023
697
c SCH069 Schindler Disease, Type I 31 0.023
698
PPL021 Papilledema 50 0.023
699
c NRD014 Neurodegeneration with Brain Iron Accumulation 4 37 0.023
700
P XRD010 Xeroderma Pigmentosum, Variant Type 62 0.023
701
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 60 0.023
702
P GRS003 Griscelli Syndrome 58 0.023
703
KWS001 Kwashiorkor 43 0.023
704
c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 41 0.023
705
P OLV001 Olivopontocerebellar Atrophy 51 0.023
706
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 51 0.023
707
DNT005 Dentatorubral-Pallidoluysian Atrophy 50 0.023
708
c LKD010 Leukodystrophy, Hypomyelinating, 2 43 0.023
709
CST001 Costello Syndrome 67 0.023
710
CMM005 Common Cold 62 0.023
711
CCH002 Coach Syndrome 51 0.023
712
P THM010 Thiamine Metabolism Dysfunction Syndrome 2 45 0.023
713
P PRD006 Prader-Willi Syndrome 66 0.023
714
c SPN106 Spinocerebellar Ataxia 5 40 0.023
715
CVR010 Cavernous Malformation 40 0.023
716
c CNT028 Central Retinal Artery Occlusion 40 0.023
717
MSC165 Muscular Dystrophy, Congenital, Lmna-Related 59 0.023
718
ECT006 Ectodermal Dysplasia 57 0.023
719
P HRP009 Herpes Simplex Encephalitis 50 0.023
720
OCC006 Occipital Horn Syndrome 49 0.023
721
c USH044 Usher Syndrome, Type Iiib 26 0.023
722
3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 24 0.023
723
c AMG001 Amegakaryocytic Thrombocytopenia, Congenital 51 0.023
724
HYD059 Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 34 0.023
725
c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26 0.023
726
SBC025 Subcortical Arteriosclerotic Encephalopathy 18 0.023
727
P HLP001 Holoprosencephaly 67 0.023
728
P ATT013 Attention Deficit-Hyperactivity Disorder 67 0.023
729
DGR001 Digeorge Syndrome 55 0.023
730
P MLT008 Multinodular Goiter 44 0.023
731
P CHR084 Chromosomal Disease 40 0.023
732
c ORF042 Orofaciodigital Syndrome Xi 21 0.023
733
c JBR014 Joubert Syndrome 9 19 0.022
734
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 62 0.022
735
CHR003 Cherubism 57 0.022
736
MCL009 Mcleod Syndrome 45 0.022
737
IRT001 Iritis 36 0.022
738
c ACR081 Aicardi-Goutieres Syndrome 6 28 0.022
739
c MNT234 Mental Retardation, Autosomal Recessive 48 21 0.022
740
LBR002 Leber Hereditary Optic Neuropathy 57 0.022
741
IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 48 0.022
742
VSC044 Visceral Myopathy 52 0.022
743
FBR019 Fibromatosis 47 0.022
744
c ACR090 Aicardi-Goutieres Syndrome 2 31 0.022
745
c CRN134 Cornelia De Lange Syndrome 2 27 0.022
746
P ATM019 Autoimmune Polyendocrine Syndrome 47 0.022
747
ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 34 0.022
748
c PRX060 Peroxisome Biogenesis Disorder 5a 29 0.022
749
c PRX063 Peroxisome Biogenesis Disorder 2a 29 0.022
750
c PRX054 Peroxisome Biogenesis Disorder 12a 26 0.022
751
c PRX055 Peroxisome Biogenesis Disorder 11a 25 0.022
752
c PRX091 Peroxisome Biogenesis Disorder 8a 24 0.022
753
c PRX052 Peroxisome Biogenesis Disorder 13a 23 0.022
754
c PRX051 Peroxisome Biogenesis Disorder 6a 22 0.022
755
c JBR018 Joubert Syndrome 4 22 0.022
756
c ALT007 Alternating Hemiplegia of Childhood 2 19 0.022
757
3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 41 0.022
758
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 38 0.022
759
c ACR092 Aicardi-Goutieres Syndrome 5 33 0.022
760
c JBR024 Joubert Syndrome 14 23 0.022
761
c JBR037 Joubert Syndrome 26 22 0.022
762
c JBR039 Joubert Syndrome 28 19 0.022
763
c JBR028 Joubert Syndrome 13 17 0.022
764
P HYP818 Hypobetalipoproteinemia, Familial, 1 54 0.022
765
P PTT014 Pitt-Hopkins Syndrome 52 0.022
766
P NNT009 Neonatal Diabetes Mellitus 48 0.022
767
c NRD032 Neurodegeneration with Brain Iron Accumulation 5 42 0.022
768
c MCR241 Microphthalmia, Syndromic 3 39 0.022
769
PND004 Pandas 34 0.022
770
c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31 0.022
771
c SPN096 Spinocerebellar Ataxia 21 30 0.022
772
c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 54 0.022
773
P SCH018 Schizencephaly 53 0.022
774
KLV001 Kluver-Bucy Syndrome 41 0.022
775
PRP056 Porphyria, Acute Hepatic 41 0.022
776
CHP002 Chops Syndrome 40 0.022
777
c NPH067 Nephronophthisis 12 19 0.022
778
c CLD010 Cold-Induced Sweating Syndrome 1 47 0.022
779
c 3MT014 3-Methylglutaconic Aciduria, Type V 40 0.022
780
c 3MT019 3-Methylglutaconic Aciduria, Type Iv 37 0.022
781
c 3MT021 3-Methylglutaconic Aciduria, Type Viii 23 0.022
782
P GNG025 Gingival Fibromatosis 50 0.022
783
ISV001 Isovaleric Acidemia 49 0.022
784
c PRX059 Peroxisome Biogenesis Disorder 1a 41 0.022
785
OBS002 Obsessive-Compulsive Disorder 68 0.021
786
GLD006 Goldberg-Shprintzen Syndrome 48 0.021
787
P ICH001 Ichthyosis Vulgaris 47 0.021
788
CHR105 Choreoacanthocytosis 46 0.021
789
c CRN278 Craniosynostosis 1 41 0.021
790
c MGR032 Migraine, Familial Hemiplegic, 1 32 0.021
791
c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 24 0.021
792
c LSS009 Lissencephaly 3 22 0.021
793
FTL064 Fetal Methylmercury Syndrome 22 0.021
794
CLB010 Coloboma of Macula 52 0.021
795
c SZR007 Seizures, Benign Familial Infantile, 3 46 0.021
796
LMB024 Limbic Encephalitis 42 0.021
797
PNG002 Pain Agnosia 41 0.021
798
CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 34 0.021
799
c JBR041 Joubert Syndrome 3 24 0.021
800
c MCR269 Microcephaly 15, Primary, Autosomal Recessive 22 0.021
801
c XRD031 Xeroderma Pigmentosum, Complementation Group F 53 0.021
802
c WRD033 Waardenburg Syndrome, Type 2e 52 0.021
803
c EPL099 Epileptic Encephalopathy, Early Infantile, 15 49 0.021
804
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 47 0.021
805
c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 47 0.021
806
PRS055 Pierson Syndrome 43 0.021
807
ART002 Arts Syndrome 41 0.021
808
c HYD060 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 38 0.021
809
P MCR251 Microphthalmia, Syndromic 6 30 0.021
810
LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 28 0.021
811
c PRX057 Peroxisome Biogenesis Disorder 4a 24 0.021
812
NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 23 0.021
813
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 23 0.021
814
c NPH053 Nephronophthisis 11 23 0.021
815
c MCR236 Microcephaly 13, Primary, Autosomal Recessive 21 0.021
816
ACT238 Acth Deficiency, Isolated 45 0.021
817
MTS001 Mutism 42 0.021
818
BSL009 Basal Ganglia Calcification 39 0.021
819
c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38 0.021
820
ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 24 0.021
821
c MNT226 Mental Retardation, Autosomal Dominant 31 22 0.021
822
c MCR314 Microcephaly 16, Primary, Autosomal Recessive 21 0.021
823
c NPH071 Nephronophthisis 14 21 0.021
824
c MCR270 Microcephaly 14, Primary, Autosomal Recessive 20 0.021
825
c MCR255 Microcephaly 9, Primary, Autosomal Recessive 20 0.021
826
c NRP029 Neuropathy, Hereditary Sensory, Type Iic 19 0.021
827
SCH012 Schizoaffective Disorder 51 0.021
828
ALP077 Alpha-Methylacetoacetic Aciduria 41 0.021
829
CRB148 Cerebral Creatine Deficiency Syndrome 3 38 0.021
830
c OTP007 Otopalatodigital Syndrome, Type Ii 38 0.021
831
CRT012 Cortical Blindness 34 0.021
832
CDS002 Codas Syndrome 32 0.021
833
GLT019 Glut1 Deficiency Syndrome 2 31 0.021
834
c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 29 0.021
835
c PRN047 Porencephaly 2 19 0.021
836
SPT006 Septooptic Dysplasia 54 0.021
837
GLS018 Glass Syndrome 38 0.021
838
c CHR630 Chorea, Benign Hereditary 33 0.021
839
TMP011 Temple-Baraitser Syndrome 32 0.021
840
c PNT043 Pontocerebellar Hypoplasia, Type 4 29 0.021
841
c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 27 0.021
842
c HYP248 Hyperprolinemia, Type I 27 0.021
843
c JBR012 Joubert Syndrome 5 25 0.021
844
c MNT289 Mental Retardation, X-Linked 103 17 0.021
845
P SHR029 Short Syndrome 54 0.021
846
SBS004 Substance Dependence 51 0.021
847
P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 50 0.021
848
PTT059 Pettigrew Syndrome 40 0.021
849
SYD002 Sydenham Chorea 39 0.021
850
SCK001 Sick Building Syndrome 36 0.021
851
GLL028 Gillespie Syndrome 33 0.021
852
MTC058 Mitochondrial Dna Depletion Syndrome 6 29 0.021
853
c HLP025 Holoprosencephaly 9 25 0.021
854
c MCR223 Microcephaly 10, Primary, Autosomal Recessive 24 0.021
855
c MNT239 Mental Retardation, Autosomal Dominant 35 20 0.021
856
c PRR026 Perrault Syndrome 5 20 0.021
857
c MNT245 Mental Retardation, Autosomal Dominant 36 19 0.021
858
TCD001 Tic Disorder 54 0.020
859
WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44 0.020
860
c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 37 0.020
861
EPL131 Epilepsy, Pyridoxine-Dependent 37 0.020
862
NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 31 0.020
863
ACR119 Acrodysostosis 2 with or Without Hormone Resistance 29 0.020
864
c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 28 0.020
865
CRT028 Cor Triatriatum 25 0.020
866
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 24 0.020
867
c PRX046 Peroxisome Biogenesis Disorder 7a 24 0.020
868
SPN187 Spinocerebellar Atrophy 23 0.020
869
c JBR038 Joubert Syndrome 27 18 0.020
870
c HYP302 Hypomagnesemia 4, Renal 18 0.020
871
c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 16 0.020
872
P CFF008 Coffin-Siris Syndrome 1 59 0.020
873
P ACT105 Acute Mountain Sickness 58 0.020
874
GRG001 Greig Cephalopolysyndactyly Syndrome 53 0.020
875
CTY001 Cat Eye Syndrome 49 0.020
876
PSD009 Pseudohermaphroditism 42 0.020
877
DBT090 Diabetes and Deafness, Maternally Inherited 40 0.020
878
c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 37 0.020
879
BHR001 Behr Syndrome 36 0.020
880
PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 36 0.020
881
c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 25 0.020
882
c PRX065 Peroxisome Biogenesis Disorder 3a 25 0.020
883
c CFF009 Coffin-Siris Syndrome 4 24 0.020
884
c PRX048 Peroxisome Biogenesis Disorder 10a 24 0.020
885
c JBR042 Joubert Syndrome 23 22 0.020
886
c MNT159 Mental Retardation, Autosomal Dominant 19 20 0.020
887
c JBR021 Joubert Syndrome 18 20 0.020
888
NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 20 0.020
889
HRT011 Heart Septal Defect 44 0.020
890
c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 44 0.020
891
RVS001 Revesz Syndrome 39 0.020
892
c BRT038 Baraitser-Winter Syndrome 1 37 0.020
893
WCK001 Wieacker-Wolff Syndrome 33 0.020
894
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 31 0.020
895
RCH002 Richards-Rundle Syndrome 30 0.020
896
MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 29 0.020
897
c RBN008 Rubinstein-Taybi Syndrome 2 25 0.020
898
BRN097 Brainstem Auditory Evoked Responses 24 0.020
899
c MNT213 Mental Retardation, Autosomal Recessive 40 22 0.020
900
c MNT211 Mental Retardation, Autosomal Dominant 23 21 0.020
901
c SCH064 Schizophrenia 10 17 0.020
902
c MCR282 Microcephaly and Chorioretinopathy 1 6 0.020
903
c MCR283 Microcephaly and Chorioretinopathy 2 6 0.020
904
DBF001 D-Bifunctional Protein Deficiency 57 0.020
905
WLF002 Wolf-Hirschhorn Syndrome 54 0.020
906
FCL022 Focal Dystonia 47 0.020
907
DGL002 D-Glyceric Aciduria 37 0.020
908
DSM002 Desmosterolosis 35 0.020
909
SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 29 0.020
910
c ACT053 Acute Thyroiditis 29 0.020
911
c CFF010 Coffin-Siris Syndrome 3 25 0.020
912
c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24 0.020
913
c CFF007 Coffin-Siris Syndrome 2 24 0.020
914
P MGL013 Megalencephaly 54 0.020
915
ACR012 Aicardi Syndrome 49 0.020
916
HYP077 Hypertrichosis 49 0.020
917
HRT030 Hartsfield Syndrome 43 0.020
918
CNV002 Conversion Disorder 42 0.020
919
CRR017 Curry-Jones Syndrome 33 0.020
920
GRW036 Growth Control, Y-Chromosome Influenced 33 0.020
921
c MNT187 Mental Retardation, X-Linked 49 24 0.020
922
CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 24 0.020
923
P MRD002 Marden-Walker Syndrome 47 0.020
924
TRC010 Trichotillomania 46 0.020
925
HMH004 Hemihyperplasia, Isolated 43 0.020
926
BNG006 Benign Familial Neonatal Epilepsy 36 0.020
927
KFM001 Kaufman Oculocerebrofacial Syndrome 36 0.020
928
CLL036 Culler-Jones Syndrome 32 0.020
929
MCR183 Microcephaly-Capillary Malformation Syndrome 29 0.020
930
MCR096 Macrocephaly/autism Syndrome 25 0.020
931
MND023 Mend Syndrome 25 0.020
932
NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 25 0.020
933
c RTT008 Rett Syndrome, Congenital Variant 24 0.020
934
c ADM007 Adams-Oliver Syndrome 2 23 0.020
935
c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 22 0.020
936
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22 0.020
937
CNG437 Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 22 0.020
938
IMM187 Immunodeficiency 38 with Basal Ganglia Calcification 19 0.020
939
c MNT271 Mental Retardation, X-Linked 61 18 0.020
940
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 17 0.020
941
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 43 0.019
942
MLT001 Multiple Chemical Sensitivity 40 0.019
943
c RTS003 Ritscher-Schinzel Syndrome 1 36 0.019
944
c TRC101 Trichothiodystrophy 4, Nonphotosensitive 32 0.019
945
DYS003 Dysgraphia 29 0.019
946
DYS045 Dysosteosclerosis 28 0.019
947
24D001 2,4-Dienoyl-Coa Reductase Deficiency 28 0.019
948
MTC059 Mitochondrial Dna Depletion Syndrome 5 28 0.019
949
CMB046 Combined Oxidative Phosphorylation Deficiency 11 24 0.019
950
MTP004 Metaphyseal Acroscyphodysplasia 23 0.019
951
c THM013 Thiamine Metabolism Dysfunction Syndrome 5 22 0.019
952
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 21 0.019
953
c MRG012 Meier-Gorlin Syndrome 5 20 0.019
954
c SZR020 Seizures, Benign Familial Infantile, 5 17 0.019
955
SYN005 Synostosis 50 0.019
956
P BND018 Band Heterotopia 42 0.019
957
PRG123 Progeroid Syndrome, Neonatal 30 0.019
958
HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 29 0.019
959
c PLY149 Polydactyly, Preaxial Iv 27 0.019
960
CNG065 Congenital Contractures 27 0.019
961
P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 25 0.019
962
5XP001 5-Oxoprolinase Deficiency 25 0.019
963
c CLD016 Cold-Induced Sweating Syndrome 2 24 0.019
964
LRY047 Laryngeal Abductor Paralysis 24 0.019
965
c PHL010 Peho-Like Syndrome 23 0.019
966
P ALP068 Alopecia-Intellectual Disability Syndrome 23 0.019
967
CRN042 Carnosinemia 23 0.019
968
MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 22 0.019
969
EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22 0.019
970
CNZ010 Coenzyme Q10 Deficiency, Primary, 7 21 0.019
971
MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 21 0.019
972
c ADM008 Adams-Oliver Syndrome 3 20 0.019
973
c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 19 0.019
974
c SZR016 Seizures, Benign Familial Infantile, 2 19 0.019
975
c MNT294 Mental Retardation, X-Linked 106 15 0.019
976
DMN012 Dementia - Subcortical 10 0.019
977
FCL014 Focal Epilepsy 56 0.019
978
MTN003 Motion Sickness 52 0.019
979
ENC010 Encephalocraniocutaneous Lipomatosis 48 0.019
980
RNL025 Renal Hypoplasia 37 0.019
981
ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 34 0.019
982
2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 32 0.019
983
ORM002 Oromandibular Dystonia 32 0.019
984
PHS022 Phosphoserine Phosphatase Deficiency 30 0.019
985
HMM004 Hamamy Syndrome 27 0.019
986
P KRT014 Keratosis Follicularis Spinulosa Decalvans 27 0.019
987
BMB001 Bombay Phenotype 27 0.019
988
CKS001 Ck Syndrome 27 0.019
989
ART103 Arthrogryposis, Mental Retardation, and Seizures 26 0.019
990
HYP682 Hypertelorism, Teebi Type 26 0.019
991
IMM185 Immunodeficiency 26 with or Without Neurologic Abnormalities 23 0.019
992
c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22 0.019
993
c RTS002 Ritscher-Schinzel Syndrome 2 22 0.019
994
c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 21 0.019
995
TRG007 Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 19 0.019
996
RNS005 Rnase T2-Deficient Leukoencephalopathy 19 0.019
997
CMB063 Combined Oxidative Phosphorylation Deficiency 25 19 0.019
998
CRL002 Curly Hair-Acral Keratoderma-Caries Syndrome 17 0.019
999
c MNT218 Mental Retardation, X-Linked 99 17 0.019
1000
CHR051 Chorea Gravidarum 16 0.019
1001
HRN021 Hernández-Aguirre Negrete Syndrome 14 0.019
1002
c SZR024 Seizures, Benign Familial Neonatal, Autosomal Recessive 13 0.019
1003
HMM003 Hemimegalencephaly 47 0.019
1004
HYP748 Hypertelorism 46 0.019
1005
MRP001 Morphine Dependence 43 0.019
1006
LBS001 Lubs X-Linked Mental Retardation Syndrome 41 0.019
1007
BTR002 Beta-Ureidopropionase Deficiency 38 0.019
1008
c RNG004 Ring Chromosome 1 37 0.019
1009
CLB026 Colobomatous Microphthalmia 31 0.019
1010
CRB070 Cerebral Folate Deficiency 30 0.019
1011
c RNG029 Ring Chromosome 14 Syndrome 27 0.019
1012
CHR266 Chromosome 8p23.1 Deletion 27 0.019
1013
IDP085 Idiopathic Infantile Hypercalcemia 26 0.019
1014
KPP002 Keppen-Lubinsky Syndrome 26 0.019
1015
SCH074 Schuurs-Hoeijmakers Syndrome 25 0.019
1016
IMM068 Immunodeficiency 8 22 0.019
1017
DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 22 0.019
1018
CMB025 Combined Oxidative Phosphorylation Deficiency 10 21 0.019
1019
CRT060 Cor Triatriatum Sinister 21 0.019
1020
TNR001 Tenorio Syndrome 21 0.019
1021
MCD004 Macdermot-Winter Syndrome 20 0.019
1022
OPT003 Opiate Dependence 54 0.019
1023
AGR002 Agoraphobia 47 0.019
1024
CHR659 Chromosome 22q11.2 Duplication Syndrome 36 0.019
1025
CHR387 Chromosome Xp21 Deletion Syndrome 35 0.019
1026
OCL034 Oculocerebrocutaneous Syndrome 33 0.019
1027
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 32 0.019
1028
OBS015 Obesity, Hyperphagia, and Developmental Delay 31 0.019
1029
MCR025 Microhydranencephaly 30 0.019
1030
FNT005 Fontaine Progeroid Syndrome 28 0.019
1031
VSL002 Visual Epilepsy 27 0.019
1032
SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 26 0.019
1033
ARM010 Arima Syndrome 26 0.019
1034
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 25 0.019
1035
HLS003 Helsmoortel-Van Der Aa Syndrome 24 0.019
1036
MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24 0.019
1037
SDH011 Sedoheptulokinase Deficiency 23 0.019
1038
MGL027 Megalocornea-Intellectual Disability Syndrome 22 0.019
1039
AKL001 Au-Kline Syndrome 22 0.019
1040
STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 22 0.019
1041
CMB064 Combined Oxidative Phosphorylation Deficiency 24 21 0.019
1042
CMB016 Combined Oxidative Phosphorylation Deficiency 5 21 0.019
1043
PYR025 Pyruvate Dehydrogenase E2 Deficiency 21 0.019
1044
SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 21 0.019
1045
CRT069 Cortical Malformations, Occipital 20 0.019
1046
CMB049 Combined Oxidative Phosphorylation Deficiency 17 20 0.019