Search results for psychomotor disease

978 hits were found for psychomotor disease

# Family MCID Name MIFTS Score
1
MSS001 Masa Syndrome 53 1.523
2
INF150 Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5 1.438
3
P HRT032 Heart Disease 75 0.109
4
P THY032 Thyroiditis 53 0.086
5
PHY002 Physical Disorder 43 0.085
6
NRN002 Neuronitis 39 0.081
7
c EPL184 Epileptic Encephalopathy, Early Infantile, 6 61 0.079
8
P HYP265 Hypotonia 39 0.078
9
RSP006 Respiratory System Disease 60 0.073
10
DMN002 Dementia 52 0.072
11
P EPL164 Epilepsy 65 0.071
12
PLY030 Polydactyly Cleft Lip Palate Psychomotor Retardation 10 0.069
13
P TYS001 Tay-Sachs Disease 70 0.068
14
P MCR010 Microcephaly 58 0.068
15
ALR002 Al-Raqad Syndrome 29 0.068
16
P LGH007 Leigh Syndrome 69 0.068
17
RTN023 Retinitis 49 0.065
18
P OBS005 Obesity 91 0.063
19
CRB009 Cerebritis 39 0.060
20
P ATX004 Ataxia 52 0.060
21
ANR016 Aniridia Renal Agenesis Psychomotor Retardation 6 0.060
22
HYP717 Hypotonia, Infantile, with Psychomotor Retardation 24 0.060
23
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 20 0.060
24
BSL008 Basal Ganglia Disease 44 0.059
25
HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 24 0.059
26
P INT063 Intellectual Disability 58 0.059
27
PCK002 Pick Disease 68 0.057
28
SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 20 0.057
29
P PLZ001 Pelizaeus-Merzbacher Disease 67 0.057
30
CND002 Conduct Disorder 53 0.056
31
P BRS047 Breast Cancer 100 0.056
32
c PND001 Pain Disorder 55 0.055
33
SKN016 Skin Disease 64 0.055
34
PRP019 Peripheral Nervous System Disease 53 0.054
35
HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 18 0.054
36
HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 17 0.054
37
DRG001 Drug Psychosis 41 0.054
38
P NRV007 Nervous System Disease 70 0.053
39
P MSC033 Muscle Disorders 52 0.053
40
MSC004 Muscle Tissue Disease 37 0.053
41
ANX002 Anxiety Disorder 66 0.053
42
CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 20 0.052
43
CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 21 0.051
44
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 41 0.051
45
c SZR008 Seizures, Benign Neonatal, 1 34 0.050
46
SPS057 Spasticity 42 0.050
47
P MYM002 Moyamoya Disease 60 0.050
48
SLP005 Sleep Disorder 54 0.049
49
c EPL117 Epileptic Encephalopathy, Early Infantile, 16 27 0.049
50
AND005 Androgen Insensitivity Syndrome, Mild 16 0.049
51
P HYP729 Hypersensitivity Reaction Disease 43 0.048
52
MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 18 0.048
53
HRL006 Harel-Yoon Syndrome 25 0.048
54
KDS001 Kid Syndrome 57 0.048
55
CHL071 Child Syndrome 59 0.047
56
ALX003 Alexander Disease 65 0.047
57
3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 33 0.047
58
BRT030 Birth Defects 44 0.047
59
MNT002 Mental Depression 52 0.047
60
P MSC005 Muscular Dystrophy 65 0.047
61
BRS051 Breast Disease 60 0.047
62
HYP624 Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase 22 0.047
63
c CNG415 Congenital Disorder of Glycosylation, Type Ia 48 0.046
64
P SCH015 Schizophrenia 71 0.046
65
P HYP086 Hypothyroidism 60 0.046
66
c CRN174 Coronary Heart Disease 2 21 0.046
67
P MCL013 Mucolipidosis Iv 64 0.045
68
P SLP006 Sleep Apnea 60 0.045
69
ADN022 Adenylosuccinase Deficiency 37 0.045
70
c CNG497 Congenital Disorder of Glycosylation, Type Iio 23 0.045
71
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38 0.045
72
P PLY006 Polydactyly 54 0.045
73
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 34 0.045
74
ADJ001 Adjustment Disorder 38 0.044
75
P ANR002 Aniridia 66 0.044
76
c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40 0.044
77
c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26 0.043
78
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36 0.043
79
c HMP029 Hemophilia a 64 0.043
80
P PNC044 Pancreatitis 60 0.043
81
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29 0.043
82
c 3MT015 3-Methylglutaconic Aciduria, Type I 41 0.043
83
MLN003 Melancholia 35 0.043
84
AMN007 Aminoacylase 1 Deficiency 31 0.043
85
MTC056 Mitochondrial Dna Depletion Syndrome 4a 45 0.043
86
c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24 0.043
87
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 21 0.043
88
c JBR026 Joubert Syndrome 15 26 0.042
89
c JBR035 Joubert Syndrome 24 24 0.042
90
c JBR036 Joubert Syndrome 25 21 0.042
91
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 30 0.042
92
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 29 0.042
93
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 30 0.042
94
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26 0.042
95
c MCR228 Microphthalmia, Syndromic 13 23 0.042
96
P CRB042 Cerebellar Ataxia 69 0.042
97
P CTR002 Cataract 57 0.042
98
c LKD021 Leukodystrophy, Hypomyelinating, 11 21 0.041
99
ALP008 Alopecia 54 0.041
100
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 32 0.041
101
ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 17 0.041
102
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 30 0.041
103
c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27 0.041
104
c ACR084 Aicardi-Goutieres Syndrome 7 24 0.041
105
PLY024 Polymicrogyria 36 0.041
106
c MNT270 Mental Retardation, Autosomal Recessive 53 20 0.041
107
c MYS065 Myasthenic Syndrome, Congenital, 18 22 0.041
108
c LKD020 Leukodystrophy, Hypomyelinating, 10 20 0.041
109
PSY004 Psychotic Disorder 67 0.041
110
c EPL169 Epileptic Encephalopathy, Early Infantile, 36 46 0.040
111
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 51 0.040
112
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 27 0.040
113
c CNG504 Congenital Disorder of Glycosylation, Type Iip 21 0.040
114
c CNG192 Congenital Disorder of Glycosylation, Type Ik 26 0.040
115
c EPL178 Epileptic Encephalopathy, Early Infantile, 51 19 0.040
116
c ACR088 Aicardi-Goutieres Syndrome 3 33 0.040
117
NLL002 Null Syndrome 26 0.040
118
GNT031 Genitopatellar Syndrome 43 0.040
119
CMB026 Combined Oxidative Phosphorylation Deficiency 12 27 0.040
120
c MNT296 Mental Retardation, X-Linked, Syndromic 34 22 0.040
121
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 28 0.040
122
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 32 0.039
123
AYM001 Ayme-Gripp Syndrome 32 0.039
124
c EPL082 Epileptic Encephalopathy, Early Infantile, 13 20 0.039
125
P MRN003 Marinesco-Sjogren Syndrome 37 0.039
126
MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 23 0.039
127
c GM1004 Gm1-Gangliosidosis, Type I 40 0.039
128
c PNT035 Pontocerebellar Hypoplasia, Type 1c 23 0.039
129
c LKD016 Leukodystrophy, Hypomyelinating, 9 21 0.039
130
c CNG412 Congenital Disorder of Glycosylation, Type Ii 47 0.039
131
c CNG196 Congenital Disorder of Glycosylation, Type Ic 30 0.039
132
c MNT246 Mental Retardation, Autosomal Dominant 38 23 0.039
133
P PHS005 Peho Syndrome 35 0.039
134
P RTT002 Rett Syndrome 82 0.038
135
c EPL119 Epileptic Encephalopathy, Early Infantile, 17 24 0.038
136
c CNG188 Congenital Disorder of Glycosylation, Type if 29 0.038
137
PHS023 Phosphoserine Aminotransferase Deficiency 22 0.038
138
WLM001 Wolman Disease 58 0.038
139
c CNG500 Congenital Disorder of Glycosylation, Type 1aa 18 0.038
140
P ART023 Arthropathy 62 0.038
141
P ENC018 Encephalopathy 52 0.038
142
c SPS152 Spastic Paraplegia 51, Autosomal Recessive 29 0.038
143
P MYP004 Myopathy 68 0.038
144
OBS061 Obstructive Sleep Apnea 65 0.038
145
c CNG498 Congenital Disorder of Glycosylation, Type Iin 21 0.038
146
END040 Endogenous Depression 48 0.038
147
c JBR020 Joubert Syndrome 1 61 0.038
148
c JBR031 Joubert Syndrome 21 26 0.038
149
ASP024 Asparagine Synthetase Deficiency 30 0.038
150
c PNT039 Pontocerebellar Hypoplasia, Type 7 23 0.038
151
c CNG006 Congenital Hypothyroidism 60 0.038
152
JNT002 Joint Disorders 55 0.037
153
P FCS002 Fucosidosis 59 0.037
154
IRN001 Iron Deficiency Anemia 51 0.037
155
DFC004 Deficiency Anemia 60 0.037
156
c ORF034 Orofaciodigital Syndrome Vi 42 0.037
157
ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 8 0.037
158
c CNG383 Congenital Disorder of Glycosylation, Type Iik 27 0.037
159
c MNT287 Mental Retardation, Autosomal Recessive 57 17 0.037
160
P STR020 Strabismus 52 0.037
161
ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 18 0.037
162
c MNT295 Mental Retardation, X-Linked, Syndromic 33 24 0.037
163
MTC007 Mitochondrial Complex I Deficiency 62 0.037
164
P RTN016 Retinal Degeneration 53 0.037
165
c EPL182 Epileptic Encephalopathy, Early Infantile, 54 17 0.037
166
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36 0.037
167
c PNT030 Pontocerebellar Hypoplasia, Type 8 25 0.037
168
c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22 0.037
169
SKN027 Skin Conditions 44 0.036
170
c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38 0.036
171
c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37 0.036
172
ACR008 Acrocallosal Syndrome 55 0.036
173
P SPS003 Spastic Diplegia 52 0.036
174
c LSS035 Lissencephaly 8 17 0.036
175
MTC020 Mitochondrial Complex Ii Deficiency 52 0.036
176
HPT074 Hepatic Adenoma, Somatic 44 0.036
177
c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 14 0.036
178
c LKD022 Leukodystrophy, Hypomyelinating, 13 21 0.036
179
c PNT032 Pontocerebellar Hypoplasia, Type 9 26 0.036
180
SPT006 Septooptic Dysplasia 48 0.036
181
c EPL067 Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 30 0.036
182
P CTS001 Cutis Laxa 60 0.035
183
CNS004 Constipation 56 0.035
184
c EPL023 Epileptic Encephalopathy, Early Infantile, 11 24 0.035
185
c NNS043 Nonsyndromic Retinitis Pigmentosa 27 0.035
186
c MNT272 Mental Retardation, Autosomal Dominant 41 16 0.035
187
c MNT210 Mental Retardation, Autosomal Recessive 42 23 0.035
188
c MNT221 Mental Retardation, Autosomal Recessive 44 20 0.035
189
c MNT275 Mental Retardation, Autosomal Recessive 60 16 0.035
190
c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 16 0.035
191
NRR002 Norrie Disease 62 0.035
192
SLT014 Salt and Pepper Developmental Regression Syndrome 33 0.035
193
c MNT198 Mental Retardation, X-Linked 98 29 0.035
194
c CRN214 Coronary Heart Disease 5 22 0.035
195
MVL001 Mevalonic Aciduria 56 0.035
196
3MT017 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia 28 0.035
197
c LSS012 Lissencephaly, X-Linked 2 27 0.035
198
PRP016 Paraplegia 48 0.035
199
c CNG403 Congenital Disorder of Glycosylation, Type Ix 28 0.035
200
c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24 0.035
201
c HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 37 0.035
202
MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 29 0.035
203
c LSS025 Lissencephaly 5 24 0.035
204
MLY006 Molybdenum Cofactor Deficiency a 33 0.035
205
c LKD023 Leukodystrophy, Hypomyelinating, 12 20 0.035
206
DCH001 Duchenne Muscular Dystrophy 79 0.034
207
c EPL174 Epileptic Encephalopathy, Early Infantile, 45 16 0.034
208
c CNG416 Congenital Disorder of Glycosylation, Type Iy 28 0.034
209
CRB045 Cerebellar Hypoplasia 50 0.034
210
CLF001 Cleft Lip 49 0.034
211
WSM002 Waisman Syndrome 31 0.034
212
ADR023 Adrenomyodystrophy 26 0.034
213
CMB054 Combined Oxidative Phosphorylation Deficiency 23 22 0.034
214
c CWD006 Cowden Syndrome 1 51 0.034
215
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28 0.034
216
ADN018 Adenoma 58 0.034
217
c CNG185 Congenital Disorder of Glycosylation, Type Iig 25 0.034
218
VCS001 Vici Syndrome 46 0.034
219
INF129 Infantile Cerebellar-Retinal Degeneration 36 0.034
220
SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 24 0.034
221
ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 17 0.034
222
PHS021 Phosphoglycerate Dehydrogenase Deficiency 31 0.034
223
HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 27 0.034
224
3HY006 3-Hydroxyisobutryl-Coa Hydrolase Deficiency 26 0.034
225
URB001 Urbach-Wiethe Disease 50 0.034
226
KHL003 Kohlschutter-Tonz Syndrome 42 0.034
227
c EPL025 Epileptic Encephalopathy, Early Infantile, 2 30 0.034
228
c CNG187 Congenital Disorder of Glycosylation, Type Iid 27 0.034
229
c EPL183 Epileptic Encephalopathy, Early Infantile, 50 23 0.034
230
CRD002 Cri-Du-Chat Syndrome 49 0.034
231
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 32 0.034
232
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 26 0.034
233
HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 25 0.034
234
c SZR014 Seizures, Benign Familial Infantile, 1 23 0.034
235
c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 22 0.034
236
GNG013 Gingivitis 61 0.034
237
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 39 0.034
238
CMB017 Combined Oxidative Phosphorylation Deficiency 6 27 0.034
239
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 25 0.034
240
c PRV018 Periventricular Nodular Heterotopia 7 16 0.034
241
c MNT144 Mental Retardation, Autosomal Dominant 6 25 0.033
242
c MNT227 Mental Retardation, Autosomal Recessive 46 21 0.033
243
ATX018 Ataxia, Cerebellar, Cayman Type 30 0.033
244
CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 23 0.033
245
HYD030 Hydroxykynureninuria 21 0.033
246
c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 21 0.033
247
c CNG193 Congenital Disorder of Glycosylation, Type Ip 25 0.033
248
c SZR013 Seizures, Benign Neonatal, Type 2 32 0.033
249
CHD004 Chudley-Mccullough Syndrome 32 0.033
250
MTC060 Mitochondrial Dna Depletion Syndrome 9 29 0.033
251
CRT037 Cortical Dysplasia-Focal Epilepsy Syndrome 28 0.033
252
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 23 0.033
253
CMB018 Combined Oxidative Phosphorylation Deficiency 7 23 0.033
254
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 22 0.033
255
CSY001 C Syndrome 53 0.033
256
c CNG206 Congenital Disorder of Glycosylation, Type Ie 40 0.033
257
c MNN025 Mannosidosis, Alpha-, Types I and Ii 54 0.033
258
c CNG208 Congenital Disorder of Glycosylation, Type Iic 34 0.033
259
c CNG195 Congenital Disorder of Glycosylation, Type Id 32 0.033
260
c CNG414 Congenital Disorder of Glycosylation, Type Iil 26 0.033
261
MTC079 Mitochondrial Pyruvate Carrier Deficiency 21 0.033
262
MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 20 0.033
263
HYP646 Hypomagnesemia, Seizures, and Mental Retardation 16 0.033
264
c CNG388 Congenital Disorder of Glycosylation, Type Iw 25 0.033
265
c CNG496 Congenital Disorder of Glycosylation, Type Iiq 22 0.033
266
P DYS154 Dystonia 61 0.033
267
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 50 0.033
268
GLY094 Glycine Encephalopathy with Normal Serum Glycine 28 0.033
269
ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 24 0.033
270
HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 24 0.033
271
CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 22 0.033
272
c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 18 0.033
273
DSL003 Dias-Logan Syndrome 18 0.033
274
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 52 0.033
275
c EPL135 Epileptic Encephalopathy, Early Infantile, 27 23 0.033
276
P RTN008 Retinitis Pigmentosa 80 0.033
277
P SCL018 Scoliosis 56 0.033
278
c JBR016 Joubert Syndrome 10 27 0.032
279
CST001 Costello Syndrome 67 0.032
280
c JBR030 Joubert Syndrome 22 24 0.032
281
HRT037 Heart and Brain Malformation Syndrome 26 0.032
282
SZR021 Seizures, Cortical Blindness, Microcephaly Syndrome 17 0.032
283
EPL166 Epilepsy, Early-Onset, Vitamin B6-Dependent 15 0.032
284
ENC046 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy 15 0.032
285
OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5 0.032
286
HYP266 Hypoxia 55 0.032
287
c CNG201 Congenital Disorder of Glycosylation, Type Iij 26 0.032
288
c CNG386 Congenital Disorder of Glycosylation, Type Iu 22 0.032
289
c CNG378 Congenital Disorder of Glycosylation, Type Ir 20 0.032
290
c SPS071 Spastic Paraplegia 48, Autosomal Recessive 32 0.032
291
c CNG200 Congenital Disorder of Glycosylation, Type Iq 31 0.032
292
c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21 0.032
293
c MCK028 Meckel Syndrome 13 16 0.032
294
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 32 0.032
295
VRH001 Verheij Syndrome 19 0.032
296
c MNT241 Mental Retardation, Autosomal Dominant 32 23 0.032
297
c PRX045 Peroxisome Biogenesis Disorder 1b 53 0.032
298
P NRX001 Neuroaxonal Dystrophy 38 0.032
299
DWN001 Down Syndrome 69 0.032
300
P DNT015 Dent Disease 61 0.032
301
c CNG379 Congenital Disorder of Glycosylation, Type It 31 0.032
302
c JBR015 Joubert Syndrome 6 29 0.032
303
c JBR011 Joubert Syndrome 7 27 0.032
304
c JBR013 Joubert Syndrome 8 26 0.031
305
CMP006 Complex Partial Epilepsy 29 0.031
306
c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 14 0.031
307
INT314 Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold 12 0.031
308
P LSS002 Lissencephaly 48 0.031
309
c JBR004 Joubert Syndrome 2 35 0.031
310
P CNG411 Congenital Disorder of Glycosylation, Type in 48 0.031
311
c JBR022 Joubert Syndrome 20 26 0.031
312
c JBR025 Joubert Syndrome 17 24 0.031
313
c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 35 0.031
314
c MGR032 Migraine, Familial Hemiplegic, 1 35 0.031
315
SPC003 Specific Developmental Disorder 38 0.031
316
c CNG198 Congenital Disorder of Glycosylation, Type Il 26 0.031
317
MLT135 Multiple Sulfatase Deficiency 54 0.031
318
WST001 West Syndrome 58 0.031
319
c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25 0.031
320
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 28 0.031
321
c INF065 Infantile Hypotonia 17 0.031
322
SHS001 Shashi-Pena Syndrome 14 0.031
323
INT313 Intellectual Developmental Disorder with Cardiac Arrhythmia 12 0.031
324
VTM002 Vitamin B12 Deficiency 45 0.031
325
c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 33 0.031
326
P HMP007 Hemophilia 55 0.031
327
TRF001 Trifunctional Protein Deficiency 55 0.031
328
c NRD016 Neurodegeneration with Brain Iron Accumulation 6 37 0.031
329
c GM1005 Gm1-Gangliosidosis, Type Ii 34 0.031
330
c OPT064 Optic Atrophy 11 25 0.031
331
c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25 0.031
332
c SPS104 Spastic Paraplegia 53, Autosomal Recessive 24 0.031
333
CYT008 Cytomegalovirus Infection 51 0.031
334
P TRC086 Trichohepatoenteric Syndrome 1 51 0.031
335
BNS003 Binswanger's Disease 40 0.030
336
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34 0.030
337
c EPL154 Epilepsy, Progressive Myoclonic, 9 21 0.030
338
c NMN013 Niemann-Pick Disease, Type a 58 0.030
339
P MCR241 Microphthalmia, Syndromic 3 34 0.030
340
GTL001 Gitelman Syndrome 61 0.030
341
P LRY019 Laryngitis 53 0.030
342
P RNL100 Renal Hypodysplasia/aplasia 1 50 0.030
343
c LSS010 Lissencephaly 4 29 0.030
344
HSD004 Hsd10 Mitochondrial Disease 24 0.030
345
c CFF006 Coffin-Siris Syndrome 5 21 0.030
346
c PNT033 Pontocerebellar Hypoplasia, Type 10 26 0.030
347
c MNT278 Mental Retardation, Autosomal Dominant 46 14 0.030
348
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 55 0.030
349
LRN003 Learning Disability 46 0.030
350
ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 39 0.030
351
c MNT242 Mental Retardation, Autosomal Dominant 40 24 0.030
352
c MNT279 Mental Retardation, Autosomal Dominant 47 14 0.030
353
c MNT286 Mental Retardation, Autosomal Dominant 45 14 0.030
354
ALL001 Allan-Herndon-Dudley Syndrome 49 0.030
355
PYR037 Pyruvate Carboxylase Deficiency 39 0.030
356
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 36 0.030
357
c ACR091 Aicardi-Goutieres Syndrome 4 35 0.030
358
P HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 30 0.030
359
c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 26 0.030
360
c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26 0.030
361
SSM001 Sesame Syndrome 54 0.030
362
GLY014 Glycerol Kinase Deficiency 47 0.030
363
c NTR038 Neutropenia, Severe Congenital 3, Autosomal Recessive 42 0.030
364
EST005 Esotropia 42 0.030
365
c MCP040 Mucopolysaccharidosis-Plus Syndrome 48 0.030
366
c CRN135 Cornelia De Lange Syndrome 3 28 0.030
367
THY030 Thyroid Gland Disease 49 0.030
368
c EPL191 Epileptic Encephalopathy, Early Infantile, 48 18 0.030
369
c EPL194 Epileptic Encephalopathy, Early Infantile, 55 15 0.030
370
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52 0.029
371
c L2H001 L-2-Hydroxyglutaric Aciduria 44 0.029
372
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 56 0.029
373
c LKD008 Leukodystrophy, Hypomyelinating, 4 36 0.029
374
MCR013 Microphthalmia 59 0.029
375
c MNT149 Mental Retardation, X-Linked 3 33 0.029
376
c MNT207 Mental Retardation, X-Linked, Syndromic 32 25 0.029
377
P HYP014 Hyperuricemia 50 0.029
378
c TRC078 Trichohepatoenteric Syndrome 2 34 0.029
379
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 33 0.029
380
MPL011 Maple Syrup Urine Disease, Mild Variant 14 0.029
381
PLY117 Polymicrogyria, Bilateral Frontoparietal 29 0.029
382
P LSS027 Lissencephaly, X-Linked 42 0.029
383
HYP036 Hyperlysinemia 39 0.029
384
c PRX089 Peroxisome Biogenesis Disorder 10b 16 0.029
385
c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 47 0.029
386
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42 0.028
387
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 39 0.028
388
DYG001 Dyggve-Melchior-Clausen Disease 26 0.028
389
P ENC051 Encephalopathy, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 1 26 0.028
390
P RTN024 Retinoblastoma 75 0.028
391
P PLN008 Peeling Skin Syndrome 49 0.028
392
c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23 0.028
393
GLL032 Galloway-Mowat Syndrome 45 0.028
394
LGH016 Leigh Syndrome, French-Canadian Type 29 0.028
395
P MSC094 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11 24 0.028
396
CMB052 Combined Oxidative Phosphorylation Deficiency 20 18 0.028
397
EXP004 Exophthalmos 50 0.028
398
c MSC135 Muscular Dystrophy, Limb-Girdle, Type 2y 36 0.028
399
P MNT158 Mental Retardation, Autosomal Dominant 22 26 0.028
400
c MNT177 Mental Retardation, Autosomal Recessive 27 21 0.028
401
c ORF046 Orofaciodigital Syndrome Xvi 16 0.028
402
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 38 0.028
403
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 34 0.028
404
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 23 0.028
405
c MNT280 Mental Retardation, Autosomal Dominant 43 20 0.028
406
c MNT285 Mental Retardation, Autosomal Recessive 58 19 0.028
407
c MNT236 Mental Retardation, Autosomal Dominant 39 18 0.028
408
c MNT225 Mental Retardation, Autosomal Recessive 47 18 0.028
409
c EPL127 Epileptic Encephalopathy, Early Infantile, 21 22 0.028
410
FMR004 Fumarase Deficiency 40 0.028
411
SCH071 Schaaf-Yang Syndrome 32 0.028
412
MCR257 Microcephaly, Amish Type 27 0.028
413
c MNT166 Mental Retardation, Autosomal Recessive 39 21 0.028
414
SCR025 Scarf Syndrome 21 0.028
415
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 44 0.028
416
MDN005 Mednik Syndrome 41 0.028
417
c MRD001 Marden Walker Like Syndrome 14 0.028
418
EXF001 Exfoliation Syndrome 57 0.028
419
c CNG204 Congenital Disorder of Glycosylation, Type Iih 31 0.028
420
OGD001 Ogden Syndrome 45 0.028
421
MHR002 Mohr Syndrome 31 0.028
422
STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 25 0.028
423
GRW028 Growth Retardation, Developmental Delay, Facial Dysmorphism 24 0.028
424
SPN113 Spinocerebellar Ataxia with Dysmorphism 22 0.028
425
CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 20 0.028
426
MTC067 Metachromatic Leukodystrophy Due to Sap-B Deficiency 20 0.028
427
c CRB099 Cerebrooculofacioskeletal Syndrome 3 20 0.028
428
HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 17 0.028
429
c CNG209 Congenital Disorder of Glycosylation, Type Iif 26 0.028
430
c CNG203 Congenital Disorder of Glycosylation, Type Iii 23 0.028
431
c EPL175 Epileptic Encephalopathy, Early Infantile, 43 19 0.028
432
VTM003 Vitamin Metabolic Disorder 31 0.028
433
c CNG199 Congenital Disorder of Glycosylation, Type Im 30 0.028
434
GBT001 Gaba-Transaminase Deficiency 29 0.027
435
MTC099 Mitochondrial Complex Iii Deficiency, Nuclear Type 5 28 0.027
436
CMB043 Combined Oxidative Phosphorylation Deficiency 9 22 0.027
437
ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 20 0.027
438
LPY002 Lipoyltransferase 1 Deficiency 19 0.027
439
CLF004 Cleft Lip/palate 45 0.027
440
3PS001 3p- Syndrome 41 0.027
441
EPL116 Epileptic Encephalopathy, Childhood-Onset 40 0.027
442
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 31 0.027
443
LCT005 Lacticacidemia Due to Pdx1 Deficiency 30 0.027
444
RNL105 Renal Agenesis, Unilateral 25 0.027
445
BSL040 Basel-Vanagait-Smirin-Yosef Syndrome 22 0.027
446
PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 21 0.027
447
RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 21 0.027
448
WHT019 White-Sutton Syndrome 21 0.027
449
CMB051 Combined Oxidative Phosphorylation Deficiency 21 16 0.027
450
MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 15 0.027
451
KRT009 Keratosis 48 0.027
452
c EPL179 Epileptic Encephalopathy, Early Infantile, 52 19 0.027
453
c EPL173 Epileptic Encephalopathy, Early Infantile, 47 17 0.027
454
P EHL001 Ehlers-Danlos Syndrome 61 0.027
455
c BRD010 Bardet-Biedl Syndrome 1 55 0.027
456
P BRD002 Bardet-Biedl Syndrome 64 0.027
457
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 28 0.027
458
PNT009 Pontine Tegmental Cap Dysplasia 27 0.027
459
MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 26 0.027
460
CHR523 Chromosome 15q11.2 Deletion Syndrome 25 0.027
461
LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 23 0.027
462
P PRV016 Periventricular Nodular Heterotopia 6 21 0.027
463
NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 17 0.027
464
RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 17 0.027
465
c HYP593 Hyperphosphatasia with Mental Retardation Syndrome 5 15 0.027
466
QZM001 Qazi Markouizos Syndrome 11 0.027
467
P JBR003 Joubert Syndrome and Related Disorders 37 0.027
468
c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 29 0.027
469
BNF002 Bone Fracture 51 0.027
470
c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25 0.027
471
CHR518 Chromosome 9p Deletion Syndrome 32 0.027
472
MRF019 Marfan Lipodystrophy Syndrome 23 0.027
473
IMM141 Immunodeficiency 49 23 0.027
474
c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 21 0.027
475
XGB001 Xia-Gibbs Syndrome 19 0.027
476
c CNG189 Congenital Disorder of Glycosylation, Type Ib 36 0.027
477
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34 0.027
478
c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 26 0.027
479
c JBR040 Joubert Syndrome 30 15 0.027
480
c BRD032 Bardet-Biedl Syndrome 14 40 0.027
481
P PNT019 Pontocerebellar Hypoplasia 38 0.027
482
P ORF001 Orofaciodigital Syndrome 45 0.027
483
c BRD035 Bardet-Biedl Syndrome 15 39 0.027
484
CRD119 Cardiac Arrest 59 0.027
485
CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 19 0.027
486
MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 18 0.027
487
IMM147 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 15 0.027
488
ALZ044 Alazami-Yuan Syndrome 14 0.027
489
NRD030 Neurodegeneration, Childhood-Onset, with Brain Atrophy 12 0.027
490
CHR181 Chromosome 10p Deletion 10 0.027
491
SYM004 Say Meyer Syndrome 7 0.027
492
P OCL002 Oculocutaneous Albinism 55 0.027
493
c BRD048 Bardet-Biedl Syndrome 18 41 0.027
494
c GCH016 Gaucher Disease, Type Ii 43 0.026
495
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 31 0.026
496
c CTS041 Cutis Laxa, Autosomal Dominant 3 24 0.026
497
c PNT020 Pontocerebellar Hypoplasia Type 2b 26 0.026
498
CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 33 0.026
499
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 21 0.026
500
MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 21 0.026
501
MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 20 0.026
502
MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 20 0.026
503
MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 17 0.026
504
DYS189 Dyskinesia, Seizures, and Intellectual Developmental Disorder 14 0.026
505
ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 13 0.026
506
INT310 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 13 0.026
507
LPS021 Lopes-Maciel-Rodan Syndrome 12 0.026
508
c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24 0.026
509
P FNC043 Fanconi Anemia, Complementation Group E 51 0.026
510
P NRV006 Nervous System Cancer 59 0.026
511
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 48 0.026
512
c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 33 0.026
513
c MNT157 Mental Retardation, Autosomal Dominant 18 23 0.026
514
c MNT150 Mental Retardation, Autosomal Recessive 15 23 0.026
515
c PLN018 Peeling Skin Syndrome 2 43 0.026
516
c PNT017 Pontocerebellar Hypoplasia Type 1a 29 0.026
517
c CNG194 Congenital Disorder of Glycosylation, Type Ig 27 0.026
518
c MNT145 Mental Retardation, Autosomal Recessive 5 25 0.026
519
MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 20 0.026
520
MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 18 0.026
521
NRD029 Neurodevelopmental Disorder with Involuntary Movements 17 0.026
522
SCH032 Schrander-Stumpel Theunissen Hulsmans Syndrome 3 0.026
523
c BRD044 Bardet-Biedl Syndrome 17 45 0.026
524
c CNG205 Congenital Disorder of Glycosylation, Type Ij 31 0.026
525
c MNT234 Mental Retardation, Autosomal Recessive 48 20 0.026
526
CHR066 Chronic Fatigue Syndrome 61 0.026
527
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 26 0.026
528
c CNG207 Congenital Disorder of Glycosylation, Type Io 23 0.026
529
c BRD033 Bardet-Biedl Syndrome 13 42 0.026
530
P BPL003 Bipolar Disorder 60 0.026
531
P SZR006 Seizure Disorder 54 0.026
532
c BRD011 Bardet-Biedl Syndrome 10 48 0.026
533
ATX038 Ataxia and Polyneuropathy, Adult-Onset 25 0.026
534
c JBR014 Joubert Syndrome 9 27 0.026
535
c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22 0.026
536
c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20 0.025
537
CHR499 Chromosome 16q22 Deletion Syndrome 16 0.025
538
THV001 Thauvin-Robinet-Faivre Syndrome 14 0.025
539
GBR007 Gabriele-De Vries Syndrome 10 0.025
540
CMB078 Combined Oxidative Phosphorylation Deficiency 32 10 0.025
541
PRP084 Propionicacidemia 57 0.025
542
HYP080 Hypogonadism 52 0.025
543
c BRD018 Bardet-Biedl Syndrome 6 41 0.025
544
c PNT029 Pontocerebellar Hypoplasia Type 2d 36 0.025
545
c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21 0.025
546
HNT002 Hantavirus Pulmonary Syndrome 47 0.025
547
VSC047 Vascular Malformation 43 0.025
548
c JBR018 Joubert Syndrome 4 29 0.025
549
c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21 0.025
550
c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21 0.025
551
c BRD014 Bardet-Biedl Syndrome 2 50 0.025
552
3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 26 0.025
553
BRN028 Brain Cancer 67 0.025
554
c PLN017 Peeling Skin Syndrome 1 38 0.025
555
c CNG191 Congenital Disorder of Glycosylation, Type Iia 34 0.025
556
c CNG389 Congenital Disorder of Glycosylation, Type Iim 28 0.025
557
c JBR024 Joubert Syndrome 14 27 0.025
558
c JBR037 Joubert Syndrome 26 24 0.025
559
c JBR028 Joubert Syndrome 13 21 0.025
560
c JBR039 Joubert Syndrome 28 19 0.025
561
c CNG190 Congenital Disorder of Glycosylation, Type Iib 27 0.025
562
c EPL129 Epileptic Encephalopathy, Early Infantile, 25 22 0.025
563
c MNT239 Mental Retardation, Autosomal Dominant 35 20 0.025
564
c MNT245 Mental Retardation, Autosomal Dominant 36 20 0.025
565
ART002 Arts Syndrome 52 0.025
566
c PLN021 Peeling Skin Syndrome 3 32 0.025
567
c BRD020 Bardet-Biedl Syndrome 8 42 0.025
568
P CHR084 Chromosomal Disease 37 0.025
569
c CNG197 Congenital Disorder of Glycosylation, Type Ih 33 0.025
570
c MNT212 Mental Retardation, Autosomal Dominant 26 23 0.025
571
P DMN001 Diamond-Blackfan Anemia 70 0.025
572
CHR103 Charge Syndrome 65 0.025
573
c JBR041 Joubert Syndrome 3 29 0.025
574
c BRD013 Bardet-Biedl Syndrome 12 47 0.025
575
c SCH069 Schindler Disease, Type I 33 0.025
576
c MNT216 Mental Retardation, Autosomal Recessive 41 21 0.025
577
ALB002 Albinism 45 0.025
578
c NRD014 Neurodegeneration with Brain Iron Accumulation 4 44 0.025
579
CRD001 Cardiac Tamponade 43 0.025
580
c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 32 0.025
581
c MNT213 Mental Retardation, Autosomal Recessive 40 22 0.025
582
ASP002 Aspartylglucosaminuria 56 0.025
583
SLP001 Sleeping Sickness 46 0.025
584
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 39 0.025
585
P LCT001 Lactic Acidosis 50 0.024
586
c INF069 Infantile Neuroaxonal Dystrophy 1 45 0.024
587
ANX004 Anoxia 44 0.024
588
c MNT298 Mental Retardation, X-Linked, Syndromic, 35 15 0.024
589
c BRD016 Bardet-Biedl Syndrome 4 44 0.024
590
c JBR012 Joubert Syndrome 5 30 0.024
591
c PLN025 Peeling Skin Syndrome 5 25 0.024
592
c MNT176 Mental Retardation, Autosomal Recessive 38 22 0.024
593
CCH002 Coach Syndrome 56 0.024
594
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 52 0.024
595
HYD012 Hydrops Fetalis 43 0.024
596
c JBR038 Joubert Syndrome 27 19 0.024
597
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 47 0.024
598
c JBR021 Joubert Syndrome 18 24 0.024
599
c JBR042 Joubert Syndrome 23 23 0.024
600
c BRD015 Bardet-Biedl Syndrome 3 44 0.024
601
c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 40 0.024
602
c MCR269 Microcephaly 15, Primary, Autosomal Recessive 23 0.024
603
c MCR236 Microcephaly 13, Primary, Autosomal Recessive 22 0.024
604
c CRN134 Cornelia De Lange Syndrome 2 28 0.024
605
c USH026 Usher Syndrome Type 3b 26 0.024
606
c EPL185 Epileptic Encephalopathy, Early Infantile, 39 25 0.024
607
P MNT291 Mental Retardation, X-Linked 9/44 18 0.024
608
c MNT289 Mental Retardation, X-Linked 103 15 0.024
609
c MNT294 Mental Retardation, X-Linked 106 13 0.024
610
P DST002 Distal Arthrogryposis 57 0.024
611
P DGR001 Digeorge Syndrome 54 0.024
612
ECT006 Ectodermal Dysplasia 52 0.024
613
c BRD012 Bardet-Biedl Syndrome 11 48 0.024
614
PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 34 0.024
615
3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 26 0.024
616
c MCR314 Microcephaly 16, Primary, Autosomal Recessive 23 0.024
617
c MCR270 Microcephaly 14, Primary, Autosomal Recessive 23 0.024
618
P PRD006 Prader-Willi Syndrome 65 0.024
619
P GRS003 Griscelli Syndrome 54 0.024
620
c ORF042 Orofaciodigital Syndrome Xi 19 0.024
621
SBC025 Subcortical Arteriosclerotic Encephalopathy 16 0.024
622
P PTS002 Ptosis 52 0.024
623
CHR003 Cherubism 51 0.024
624
YNG002 Young Syndrome 29 0.024
625
FNC009 Fanconi-Bickel Syndrome 51 0.024
626
c MCL062 Mucolipidosis Ii Alpha/beta 50 0.024
627
c THR103 Thrombocytopenia, Congenital Amegakaryocytic 47 0.024
628
c ACR081 Aicardi-Goutieres Syndrome 6 29 0.024
629
c MCR223 Microcephaly 10, Primary, Autosomal Recessive 28 0.024
630
OCC006 Occipital Horn Syndrome 47 0.023
631
c ACR090 Aicardi-Goutieres Syndrome 2 33 0.023
632
c ALT007 Alternating Hemiplegia of Childhood 2 27 0.023
633
FBR019 Fibromatosis 43 0.023
634
c PRX060 Peroxisome Biogenesis Disorder 5a 31 0.023
635
c PRX063 Peroxisome Biogenesis Disorder 2a 30 0.023
636
c PRX054 Peroxisome Biogenesis Disorder 12a 27 0.023
637
c PRX055 Peroxisome Biogenesis Disorder 11a 27 0.023
638
c PRX091 Peroxisome Biogenesis Disorder 8a 26 0.023
639
c PRX052 Peroxisome Biogenesis Disorder 13a 25 0.023
640
P PRX051 Peroxisome Biogenesis Disorder 6a 25 0.023
641
c MNT230 Mental Retardation, X-Linked Syndromic 5 42 0.023
642
c LKD010 Leukodystrophy, Hypomyelinating, 2 41 0.023
643
c SPN106 Spinocerebellar Ataxia 5 40 0.023
644
c ACR092 Aicardi-Goutieres Syndrome 5 31 0.023
645
c MNT292 Mental Retardation, X-Linked 1/78 19 0.023
646
P PTT014 Pitt-Hopkins Syndrome 51 0.023
647
c MNT271 Mental Retardation, X-Linked 61 17 0.023
648
CLB001 Coloboma 54 0.023
649
c NRD032 Neurodegeneration with Brain Iron Accumulation 5 41 0.023
650
c PRX059 Peroxisome Biogenesis Disorder 1a 36 0.023
651
HMG006 Hmg-Coa Lyase Deficiency 34 0.023
652
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 30 0.023
653
c HLP025 Holoprosencephaly 9 28 0.023
654
c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 51 0.023
655
SPN040 Spinal Cancer 42 0.023
656
IMM068 Immunodeficiency 8 34 0.023
657
c SPN096 Spinocerebellar Ataxia 21 33 0.023
658
CMM005 Common Cold 57 0.023
659
P SCH018 Schizencephaly 52 0.023
660
c EPL099 Epileptic Encephalopathy, Early Infantile, 15 44 0.023
661
PNG002 Pain Agnosia 39 0.023
662
c NPH067 Nephronophthisis 12 21 0.023
663
ISV001 Isovaleric Acidemia 51 0.023
664
c LSS009 Lissencephaly 3 25 0.023
665
c 3MT021 3-Methylglutaconic Aciduria, Type Viii 19 0.023
666
KWS001 Kwashiorkor 34 0.023
667
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 27 0.023
668
P HYP027 Hypobetalipoproteinemia 54 0.022
669
P NNT009 Neonatal Diabetes Mellitus 51 0.022
670
c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 46 0.022
671
c 3MT014 3-Methylglutaconic Aciduria, Type V 39 0.022
672
c PRX057 Peroxisome Biogenesis Disorder 4a 26 0.022
673
c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 24 0.022
674
c NPH071 Nephronophthisis 14 24 0.022
675
P HYD011 Hydrolethalus Syndrome 53 0.022
676
P ICH001 Ichthyosis Vulgaris 46 0.022
677
HYP107 Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome 40 0.022
678
CHP002 Chops Syndrome 39 0.022
679
c MCR251 Microphthalmia, Syndromic 6 31 0.022
680
c MCR255 Microcephaly 9, Primary, Autosomal Recessive 23 0.022
681
PRS055 Pierson Syndrome 50 0.022
682
CHR073 Choreatic Disease 34 0.022
683
c CLD010 Cold-Induced Sweating Syndrome 1 34 0.022
684
c 3MT019 3-Methylglutaconic Aciduria, Type Iv 33 0.022
685
c NPH053 Nephronophthisis 11 25 0.022
686
c CFF009 Coffin-Siris Syndrome 4 24 0.022
687
ALS001 Alstrom Syndrome 55 0.022
688
P GNG025 Gingival Fibromatosis 51 0.022
689
c OTP007 Otopalatodigital Syndrome, Type Ii 39 0.022
690
c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36 0.022
691
GLT032 Glut1 Deficiency Syndrome 2, Childhood Onset 30 0.022
692
c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30 0.022
693
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 29 0.022
694
c MNT226 Mental Retardation, Autosomal Dominant 31 23 0.022
695
c PRN047 Porencephaly 2 21 0.022
696
SBS004 Substance Dependence 49 0.022
697
SCH012 Schizoaffective Disorder 48 0.022
698
P THM010 Thiamine Metabolism Dysfunction Syndrome 2 42 0.022
699
IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 41 0.022
700
CDS002 Codas Syndrome 37 0.022
701
c CFF010 Coffin-Siris Syndrome 3 25 0.022
702
c HYP248 Hyperprolinemia, Type I 24 0.022
703
c CFF007 Coffin-Siris Syndrome 2 24 0.022
704
c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 21 0.022
705
INF148 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 20 0.022
706
c NRP029 Neuropathy, Hereditary Sensory, Type Iic 17 0.022
707
MCK005 Mckusick-Kaufman Syndrome 55 0.022
708
P FTL009 Fetal Akinesia Deformation Sequence 53 0.022
709
GLL028 Gillespie Syndrome 39 0.022
710
c PNT013 Pontocerebellar Hypoplasia Type 4 30 0.022
711
MTC058 Mitochondrial Dna Depletion Syndrome 6 29 0.022
712
c HYP302 Hypomagnesemia 4, Renal 25 0.022
713
c PRX046 Peroxisome Biogenesis Disorder 7a 25 0.022
714
c SCH064 Schizophrenia 10 24 0.022
715
c MNT288 Mental Retardation, X-Linked 49/15 19 0.022
716
DMN012 Dementia - Subcortical 14 0.022
717
WRD025 Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 46 0.022
718
MTS001 Mutism 41 0.022
719
c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 41 0.022
720
WLS004 Wilson-Turner Syndrome 40 0.022
721
CRB148 Cerebral Creatine Deficiency Syndrome 3 37 0.022
722
WCK001 Wieacker-Wolff Syndrome 36 0.022
723
P BNG006 Benign Familial Neonatal Epilepsy 33 0.022
724
TMP011 Temple-Baraitser Syndrome 31 0.022
725
NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 30 0.022
726
c PRX065 Peroxisome Biogenesis Disorder 3a 30 0.022
727
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 27 0.022
728
c PRX048 Peroxisome Biogenesis Disorder 10a 25 0.022
729
ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 21 0.022
730
c PRR026 Perrault Syndrome 5 20 0.022
731
P CFF008 Coffin-Siris Syndrome 1 51 0.022
732
GRG001 Greig Cephalopolysyndactyly Syndrome 51 0.022
733
c PNT034 Pontocerebellar Hypoplasia, Type 2e 36 0.022
734
EPL131 Epilepsy, Pyridoxine-Dependent 34 0.022
735
c RBN008 Rubinstein-Taybi Syndrome 2 28 0.022
736
c MCR282 Microcephaly and Chorioretinopathy 1 6 0.022
737
c MCR283 Microcephaly and Chorioretinopathy 2 6 0.022
738
TMP001 Temporal Lobe Epilepsy 50 0.021
739
HRT030 Hartsfield Syndrome 43 0.021
740
HRT011 Heart Septal Defect 40 0.021
741
RVS001 Revesz Syndrome 40 0.021
742
KFM001 Kaufman Oculocerebrofacial Syndrome 33 0.021
743
CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 27 0.021
744
ACR067 Acrodysostosis 2, with or Without Hormone Resistance 24 0.021
745
LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 21 0.021
746
ACR012 Aicardi Syndrome 49 0.021
747
BHR001 Behr Syndrome 38 0.021
748
DSM002 Desmosterolosis 33 0.021
749
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 32 0.021
750
IMM101 Immunodeficiency 38 28 0.021
751
MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 27 0.021
752
c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24 0.021
753
c MNT159 Mental Retardation, Autosomal Dominant 19 22 0.021
754
c MSC096 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 8 19 0.021
755
c MNT218 Mental Retardation, X-Linked 99 19 0.021
756
CLF027 Cleft Palate, Isolated 52 0.021
757
OST032 Osteofibrous Dysplasia 46 0.021
758
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 43 0.021
759
NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 39 0.021
760
GLD002 Goldberg-Shprintzen Megacolon Syndrome 32 0.021
761
CRT012 Cortical Blindness 32 0.021
762
c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 28 0.021
763
RCH002 Richards-Rundle Syndrome 27 0.021
764
LRY047 Laryngeal Abductor Paralysis 23 0.021
765
c MNT211 Mental Retardation, Autosomal Dominant 23 21 0.021
766
WLF002 Wolf-Hirschhorn Syndrome 50 0.021
767
P MRD002 Marden-Walker Syndrome 43 0.021
768
PSD009 Pseudohermaphroditism 39 0.021
769
MCR096 Macrocephaly/autism Syndrome 32 0.021
770
CNG065 Congenital Contractures 30 0.021
771
MCR183 Microcephaly-Capillary Malformation Syndrome 30 0.021
772
c RTT008 Rett Syndrome, Congenital Variant 28 0.021
773
CRR015 Curry-Jones Syndrome, Somatic Mosaic 28 0.021
774
ISL010 Isolated 17-Linked Lissencephaly 27 0.021
775
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 26 0.021
776
CNZ010 Coenzyme Q10 Deficiency, Primary, 7 25 0.021
777
c ADM007 Adams-Oliver Syndrome 2 24 0.021
778
c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 23 0.021
779
CNG437 Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 22 0.021
780
DBF001 D-Bifunctional Protein Deficiency 57 0.021
781
MGL013 Megalencephaly 53 0.021
782
P ACT105 Acute Mountain Sickness 51 0.021
783
HYP077 Hypertrichosis 48 0.021
784
CTY001 Cat Eye Syndrome 43 0.021
785
MTC008 Mitochondrial Complex Iii Deficiency 40 0.021
786
c RTS003 Ritscher-Schinzel Syndrome 1 34 0.021
787
CKS001 Ck Syndrome 32 0.021
788
24D001 2,4-Dienoyl-Coa Reductase Deficiency 30 0.021
789
c TRC101 Trichothiodystrophy 4, Nonphotosensitive 29 0.021
790
c THM013 Thiamine Metabolism Dysfunction Syndrome 5 27 0.021
791
MND023 Mend Syndrome 26 0.021
792
IMM121 Immunodeficiency 26, with or Without Neurologic Abnormalities 25 0.021
793
CMB046 Combined Oxidative Phosphorylation Deficiency 11 24 0.021
794
c NLD005 Nail Disorder, Nonsyndromic Congenital, 10, 22 0.021
795
c MRG012 Meier-Gorlin Syndrome 5 21 0.021
796
c FBR073 Febrile Seizures, Familial, 1 18 0.021
797
c FBR074 Febrile Seizures, Familial, 6 13 0.021
798
c FBR075 Febrile Seizures, Familial, 2 13 0.021
799
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 48 0.021
800
ADR021 Adrenocorticotropic Hormone Deficiency 46 0.021
801
HMH002 Hemihypertrophy 40 0.021
802
SCK001 Sick Building Syndrome 38 0.021
803
2MT004 2-Methylbutyrylglycinuria 34 0.021
804
VSL002 Visual Epilepsy 33 0.021
805
MTC059 Mitochondrial Dna Depletion Syndrome 5 30 0.021
806
DYS003 Dysgraphia 28 0.021
807
SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 27 0.021
808
PRG123 Progeroid Syndrome, Neonatal 26 0.021
809
DYS045 Dysosteosclerosis 26 0.021
810
5XP001 5-Oxoprolinase Deficiency 26 0.021
811
c ADM008 Adams-Oliver Syndrome 3 24 0.021
812
EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 24 0.021
813
c CMP072 Camptodactyly Syndrome, Guadalajara, Type I 22 0.021
814
MCR226 Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 21 0.021
815
CRN042 Carnosinemia 21 0.021
816
MTP004 Metaphyseal Acroscyphodysplasia 21 0.021
817
MGL027 Megalocornea-Intellectual Disability Syndrome 21 0.021
818
MLY007 Molybdenum Cofactor Deficiency C 21 0.021
819
c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 18 0.021
820
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 17 0.021
821
c SZR020 Seizures, Benign Familial Infantile, 5 17 0.021
822
FTL064 Fetal Methylmercury Syndrome 16 0.021
823
c FBR071 Febrile Seizures, Familial, 5 12 0.021
824
HMM003 Hemimegalencephaly 44 0.021
825
AGR002 Agoraphobia 43 0.021
826
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 41 0.021
827
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 40 0.021
828
P BND018 Band Heterotopia 36 0.021
829
PHS022 Phosphoserine Phosphatase Deficiency 32 0.021
830
PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 30 0.021
831
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 28 0.021
832
ATH004 Athetosis 26 0.021
833
TNR001 Tenorio Syndrome 26 0.021
834
HMM004 Hamamy Syndrome 25 0.021
835
ART103 Arthrogryposis, Mental Retardation, and Seizures 25 0.021
836
MLY005 Molybdenum Cofactor Deficiency B 24 0.021
837
HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 24 0.021
838
c RTS002 Ritscher-Schinzel Syndrome 2 22 0.021
839
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 21 0.021
840
c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 19 0.021
841
CMB063 Combined Oxidative Phosphorylation Deficiency 25 18 0.021
842
THY021 Thyroid Malformation 13 0.021
843
SYN005 Synostosis 45 0.020
844
ENC010 Encephalocraniocutaneous Lipomatosis 42 0.020
845
MLT001 Multiple Chemical Sensitivity 37 0.020
846
SCH074 Schuurs-Hoeijmakers Syndrome 24 0.020
847
HYP682 Hypertelorism, Teebi Type 23 0.020
848
CMB025 Combined Oxidative Phosphorylation Deficiency 10 22 0.020
849
c SZR016 Seizures, Benign Familial Infantile, 2 22 0.020
850
c FBR069 Febrile Seizures, Familial, 4 22 0.020
851
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 22 0.020
852
DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 18 0.020
853
TRG007 Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 16 0.020
854
ATS001 Autistic Disorder 63 0.020
855
FCL014 Focal Epilepsy 55 0.020
856
CCN001 Cocaine Dependence 48 0.020
857
GLS018 Glass Syndrome 39 0.020
858
RNL025 Renal Hypoplasia 39 0.020
859
CRB070 Cerebral Folate Deficiency 37 0.020
860
BTR002 Beta-Ureidopropionase Deficiency 37 0.020
861
c RNG004 Ring Chromosome 1 34 0.020
862
CLB026 Colobomatous Microphthalmia 28 0.020
863
CLL036 Culler-Jones Syndrome 26 0.020
864
P MYC023 Myoclonic Astatic Epilepsy 26 0.020
865
KPP002 Keppen-Lubinsky Syndrome 26 0.020
866
c RNG029 Ring Chromosome 14 Syndrome 25 0.020
867
HLS003 Helsmoortel-Van Der Aa Syndrome 25 0.020
868
CRT069 Cortical Malformations, Occipital 24 0.020
869
c CRB098 Cerebrooculofacioskeletal Syndrome 2 24 0.020
870
PYR025 Pyruvate Dehydrogenase E2 Deficiency 23 0.020
871
CMB064 Combined Oxidative Phosphorylation Deficiency 24 23 0.020
872
CMB016 Combined Oxidative Phosphorylation Deficiency 5 23 0.020
873
c CLD016 Cold-Induced Sweating Syndrome 2 22 0.020
874
P ALP068 Alopecia-Intellectual Disability Syndrome 21 0.020
875
CMB049 Combined Oxidative Phosphorylation Deficiency 17 20 0.020
876
MCD004 Macdermot-Winter Syndrome 19 0.020
877
STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 18 0.020
878
SPS190 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 18 0.020
879
MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 18 0.020
880
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 18 0.020
881
PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 17 0.020
882
RNS005 Rnase T2-Deficient Leukoencephalopathy 15 0.020
883
MTN003 Motion Sickness 47 0.020
884
OPD001 Opioid Abuse 39 0.020
885
c CRB101 Cerebrooculofacioskeletal Syndrome 1 39 0.020
886
CHR539 Chromosome 22q11.2 Microduplication Syndrome 34 0.020
887
OCL034 Oculocerebrocutaneous Syndrome 30 0.020
888
MCR025 Microhydranencephaly 30 0.020
889
DGL002 D-Glyceric Aciduria 27 0.020
890
RBS005 Ribose 5-Phosphate Isomerase Deficiency 26 0.020
891
MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 24 0.020
892
PLY110 Polymicrogyria, Bilateral Temporooccipital 24 0.020
893
KRT014 Keratosis Follicularis Spinulosa Decalvans 24 0.020
894
MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 24 0.020
895
ALZ030 Alazami Syndrome 24 0.020
896
CHR266 Chromosome 8p23.1 Deletion 23 0.020
897
SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 23 0.020
898
HYP579 Hyperammonemia Due to Carbonic Anhydrase Va Deficiency 22 0.020
899
IMM061 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome-2 22 0.020
900
MTC092 Mitochondrial Complex Deficiency, Nuclear Type 4 22 0.020
901
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 21 0.020
902
AKL001 Au-Kline Syndrome 20 0.020
903
PNC049 Pancreatic Adenoma 20 0.020
904
2MN001 2-Aminoadipic 2-Oxoadipic Aciduria 19 0.020
905
IMM133 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 16 0.020
906
GRW035 Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy 14 0.020
907
OKR001 Okur-Chung Neurodevelopmental Syndrome 14 0.020
908
MYP122 Myopathy, Congenital, with Neuropathy and Deafness 11 0.020
909
ALB022 Albinism-Microcephaly-Digital Anomalies Syndrome 11 0.020
910
MNT028 Mental Retardation Smith Fineman Myers Type 9 0.020
911
WRS002 Warsaw Breakage Syndrome 42 0.020
912
HRD005 Hard Palate Cancer 32 0.020
913
BNB002 Bainbridge-Ropers Syndrome 24 0.020
914
EHL070 Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies 24 0.020
915
P CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22 0.020
916
SPN382 Spinal Muscular Atrophy with Congenital Bone Fractures 1 22 0.020
917
SDH011 Sedoheptulokinase Deficiency 21 0.020
918
CMB065 Combined Oxidative Phosphorylation Deficiency 26 18 0.020
919
SPN353 Spondylometaphyseal Dysplasia, X-Linked 16 0.020
920
CMB071 Combined Oxidative Phosphorylation Deficiency 27 16 0.020
921
NTT001 Not Otherwise Specified 3-Mga-Uria Type 5 0.020
922
c MTR051 Maternal Uniparental Disomy of Chromosome 1 30 0.019
923
VND005 Van Den Ende-Gupta Syndrome 27 0.019
924
P CRB100 Cerebrooculofacioskeletal Syndrome 4 25 0.019
925
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 24 0.019
926
CNZ011 Coenzyme Q10 Deficiency, Primary, 8 21 0.019
927
LMB069 Lamb-Shaffer Syndrome 21 0.019
928
DSN002 Desanto-Shinawi Syndrome 20 0.019
929
YNH001 Yuan-Harel-Lupski Syndrome 19 0.019
930
CHR567 Chromosome 5q12 Deletion Syndrome 18 0.019
931
PRT108 Puerto Rican Infant Hypotonia Syndrome 17 0.019
932
RNL111 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia 16 0.019
933
c PTR011 Paternal Uniparental Disomy of Chromosome 1 15 0.019
934
CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 14 0.019
935
HYP171 Hyperphenylalaninemia Due to Dehydratase Deficiency 10 0.019
936
MRP001 Morphine Dependence 42 0.019
937
PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 33 0.019
938
CHR390 Chromosome 14q11-Q22 Deletion Syndrome 33 0.019
939
P DMN036 Diamond Blackfan Anemia 15 with Mandibulofacial Dysostosis 29 0.019
940
HYP277 Hypothalamic Hamartomas, Somatic 27 0.019
941
TRP015 Triphalangeal Thumb 27 0.019
942
CHR399 Chromosome 4q21 Deletion Syndrome 24 0.019
943
MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 23 0.019
944
CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 20 0.019
945
CHR379 Chromosome 15q26-Qter Deletion Syndrome 20 0.019
946
OCL071 Oculocerebral Hypopigmentation Syndrome of Preus 18 0.019
947
SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 17 0.019
948
MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 17 0.019
949
MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 17 0.019
950
GBM001 Gaba Aminotransferase Deficiency 16 0.019
951
HYP722 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 15 0.019
952
LKN009 Leukoencephalopathy with Metaphyseal Chondrodysplasia 15 0.019
953
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 14 0.019
954
NRD031 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 13 0.019
955
HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 12 0.019
956
ELL003 Elliott Ludman Teebi Syndrome 4 0.019
957
MGR005 Megarbane Syndrome 4 0.019
958
FRS007 Frias Syndrome 28 0.019
959
PRV007 Periventricular Heterotopia with Microcephaly 24 0.019
960
CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 21 0.019
961
GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 19 0.019
962
CHR612 Chromosome 15q14 Deletion Syndrome 18 0.019
963
HYP659 Hypomyelinating Leukoencephalopathy 17 0.019
964
INT312 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 14 0.019
965
MCR061 Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 13 0.019
966
ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 11 0.019
967
GZP004 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 10 0.019
968
DYS190 Dystonia 28, Childhood-Onset 15 0.018
969
CHR494 Chromosome 15q25 Deletion Syndrome 14 0.018
970
CHR400 Chromosome 6q11-Q14 Deletion Syndrome 14 0.018
971
ZTT001 Zttk Syndrome 13 0.018
972
STN014 Stankiewicz-Isidor Syndrome 12 0.018
973
CHN070 Cohen-Gibson Syndrome 12 0.018
974
CHR360 Chromosome 4q32.1-Q32.2 Triplication Syndrome 11 0.018
975
SKR001 Skraban-Deardorff Syndrome 11 0.018
976
CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 8 0.018
977
VND006 Van Den Ende-Gupta Sndrome 6 0.018
978
CRB012 Cerebral Folate Receptor Alpha Deficiency 3 0.018
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