Search results for psychomotor disease

630 hits were found for psychomotor disease

# Family MCID Name MIFTS Score
1
MSS001 Masa Syndrome 52 1.611
2
INF150 Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5 1.457
3
P HRT032 Heart Disease 75 0.111
4
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 36 0.102
5
P THY032 Thyroiditis 54 0.095
6
P HYP265 Hypotonia 38 0.091
7
NRN002 Neuronitis 41 0.087
8
PLY030 Polydactyly Cleft Lip Palate Psychomotor Retardation 9 0.084
9
P MCR010 Microcephaly 58 0.081
10
P EPL164 Epilepsy 66 0.080
11
RSP006 Respiratory System Disease 58 0.079
12
PHY002 Physical Disorder 43 0.076
13
DMN002 Dementia 65 0.075
14
ALR002 Al-Raqad Syndrome 36 0.074
15
RTN023 Retinitis 50 0.071
16
SLP005 Sleep Disorder 53 0.070
17
HYP650 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 25 0.070
18
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 17 0.070
19
P TYS001 Tay-Sachs Disease 71 0.066
20
P INT063 Intellectual Disability 49 0.066
21
ANR016 Aniridia Renal Agenesis Psychomotor Retardation 5 0.066
22
P OBS005 Obesity 92 0.066
23
CRB009 Cerebritis 39 0.066
24
c PND001 Pain Disorder 54 0.064
25
P ATX004 Ataxia 53 0.064
26
P ENC018 Encephalopathy 59 0.063
27
BSL008 Basal Ganglia Disease 40 0.062
28
P MYP004 Myopathy 67 0.062
29
P HYP086 Hypothyroidism 64 0.061
30
PCK002 Pick Disease 68 0.060
31
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.060
32
DFC004 Deficiency Anemia 64 0.059
33
P BRS047 Breast Cancer 100 0.059
34
P DRV001 Dravet Syndrome 69 0.059
35
LRN003 Learning Disability 49 0.059
36
CRB167 Cerebellar Atrophy, Visual Impairment and Psychomotor Retardation 12 0.058
37
P MSC033 Muscle Disorders 52 0.058
38
CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 9 0.058
39
HYP624 Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase 36 0.057
40
END040 Endogenous Depression 53 0.055
41
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 41 0.055
42
NTR005 Nutritional Deficiency Disease 36 0.055
43
AYM001 Ayme-Gripp Syndrome 41 0.054
44
HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 7 0.054
45
P MSC005 Muscular Dystrophy 65 0.054
46
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 33 0.054
47
MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 8 0.053
48
P MYM002 Moyamoya Disease 61 0.053
49
P SCH015 Schizophrenia 77 0.053
50
P NRV007 Nervous System Disease 71 0.053
51
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.052
52
CHL071 Child Syndrome 58 0.052
53
KDS001 Kid Syndrome 53 0.052
54
P ANR002 Aniridia 64 0.052
55
P SLP006 Sleep Apnea 61 0.052
56
SPS057 Spasticity 42 0.052
57
MLN003 Melancholia 34 0.051
58
OBS061 Obstructive Sleep Apnea 66 0.051
59
ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 15 0.050
60
c CRN174 Coronary Heart Disease 2 20 0.050
61
BRS051 Breast Disease 61 0.050
62
DSS008 Disease of Mental Health 52 0.050
63
P MCL013 Mucolipidosis Iv 62 0.050
64
ADJ001 Adjustment Disorder 38 0.049
65
MSC004 Muscle Tissue Disease 34 0.049
66
HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 8 0.049
67
ADN022 Adenylosuccinase Deficiency 35 0.049
68
c CNG415 Congenital Disorder of Glycosylation, Type Ia 45 0.049
69
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 27 0.049
70
P CRB042 Cerebellar Ataxia 63 0.049
71
P LGH007 Leigh Syndrome 70 0.049
72
P PLY006 Polydactyly 56 0.048
73
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 57 0.048
74
ALP008 Alopecia 57 0.048
75
c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28 0.048
76
c HMP029 Hemophilia a 63 0.047
77
c 3MT015 3-Methylglutaconic Aciduria, Type I 40 0.047
78
3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 31 0.047
79
P CTR002 Cataract 58 0.047
80
P PNC044 Pancreatitis 61 0.047
81
c GM1004 Gm1-Gangliosidosis, Type I 40 0.046
82
ACD009 Acid-Labile Subunit, Deficiency of 45 0.046
83
c CNG206 Congenital Disorder of Glycosylation, Type Ie 47 0.045
84
MTC056 Mitochondrial Dna Depletion Syndrome 4a 48 0.045
85
c JBR020 Joubert Syndrome 1 60 0.045
86
c CRN214 Coronary Heart Disease 5 22 0.045
87
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 30 0.045
88
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 36 0.045
89
OBS015 Obesity, Hyperphagia, and Developmental Delay 41 0.045
90
c CNG006 Congenital Hypothyroidism 60 0.045
91
c JBR026 Joubert Syndrome 15 26 0.045
92
PLY024 Polymicrogyria 35 0.045
93
c MCR228 Microphthalmia, Syndromic 13 22 0.044
94
P FCS002 Fucosidosis 57 0.044
95
P RTT002 Rett Syndrome 77 0.044
96
c ORF034 Orofaciodigital Syndrome Vi 38 0.044
97
ANX002 Anxiety Disorder 67 0.044
98
WLM001 Wolman Disease 57 0.044
99
P STR020 Strabismus 51 0.044
100
c LKD021 Leukodystrophy, Hypomyelinating, 11 20 0.044
101
P ALX003 Alexander Disease 63 0.044
102
c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 24 0.043
103
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 34 0.043
104
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 43 0.043
105
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 27 0.043
106
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 31 0.043
107
P PLZ001 Pelizaeus-Merzbacher Disease 65 0.043
108
IRN001 Iron Deficiency Anemia 52 0.043
109
c LKD020 Leukodystrophy, Hypomyelinating, 10 22 0.043
110
c MYS065 Myasthenic Syndrome, Congenital, 18 21 0.043
111
P RTN016 Retinal Degeneration 54 0.043
112
VCS001 Vici Syndrome 43 0.042
113
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 27 0.042
114
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27 0.042
115
GNT031 Genitopatellar Syndrome 39 0.042
116
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25 0.042
117
MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 20 0.041
118
P CTS001 Cutis Laxa 58 0.041
119
CLF001 Cleft Lip 50 0.041
120
c LKD016 Leukodystrophy, Hypomyelinating, 9 20 0.041
121
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 29 0.041
122
CRB045 Cerebellar Hypoplasia 48 0.041
123
AMN007 Aminoacylase 1 Deficiency 27 0.041
124
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 31 0.041
125
c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 24 0.041
126
CNS004 Constipation 57 0.041
127
PHS021 Phosphoglycerate Dehydrogenase Deficiency 28 0.041
128
CRD002 Cri-Du-Chat Syndrome 48 0.040
129
DCH001 Duchenne Muscular Dystrophy 79 0.040
130
GNR004 Generalized Anxiety Disorder 51 0.040
131
c CNG192 Congenital Disorder of Glycosylation, Type Ik 24 0.040
132
ASP024 Asparagine Synthetase Deficiency 28 0.040
133
WST001 West Syndrome 57 0.040
134
SPN369 Spinal Disease 39 0.040
135
c CNG185 Congenital Disorder of Glycosylation, Type Iig 25 0.040
136
URB001 Urbach-Wiethe Disease 49 0.039
137
c CNG187 Congenital Disorder of Glycosylation, Type Iid 26 0.039
138
c PNT035 Pontocerebellar Hypoplasia, Type 1c 20 0.039
139
ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 16 0.039
140
OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5 0.039
141
SVR092 Severe Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome 5 0.039
142
c JBR035 Joubert Syndrome 24 16 0.039
143
c JBR036 Joubert Syndrome 25 15 0.039
144
c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38 0.039
145
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 22 0.039
146
NRR002 Norrie Disease 60 0.039
147
DVL001 Developmental Coordination Disorder 36 0.039
148
c CNG196 Congenital Disorder of Glycosylation, Type Ic 29 0.039
149
MDD011 Mood Disorder 61 0.039
150
c CNG412 Congenital Disorder of Glycosylation, Type Ii 46 0.039
151
c MNT246 Mental Retardation, Autosomal Dominant 38 20 0.039
152
c CNG208 Congenital Disorder of Glycosylation, Type Iic 31 0.039
153
SCR035 Sacral Agenesis with Vertebral Anomalies 30 0.039
154
P MCP010 Mucopolysaccharidosis 60 0.039
155
AND005 Androgen Insensitivity Syndrome, Mild 16 0.039
156
c CNG188 Congenital Disorder of Glycosylation, Type if 27 0.039
157
P SPS003 Spastic Diplegia 52 0.038
158
CMP006 Complex Partial Epilepsy 30 0.038
159
c EPL102 Epileptic Encephalopathy, Early Infantile, 18 25 0.038
160
P SCL018 Scoliosis 55 0.038
161
c JBR031 Joubert Syndrome 21 25 0.038
162
ADN018 Adenoma 58 0.038
163
GNG013 Gingivitis 61 0.038
164
P NRX001 Neuroaxonal Dystrophy 38 0.037
165
c CNG383 Congenital Disorder of Glycosylation, Type Iik 25 0.037
166
c JBR015 Joubert Syndrome 6 27 0.037
167
PRD011 Proud Syndrome 42 0.037
168
c EPL119 Epileptic Encephalopathy, Early Infantile, 17 24 0.037
169
P RNL100 Renal Hypodysplasia/aplasia 1 53 0.037
170
VTM002 Vitamin B12 Deficiency 44 0.037
171
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 26 0.037
172
c JBR025 Joubert Syndrome 17 23 0.037
173
PSY004 Psychotic Disorder 67 0.037
174
c PNT030 Pontocerebellar Hypoplasia, Type 8 23 0.037
175
P DYS154 Dystonia 65 0.037
176
P RTN008 Retinitis Pigmentosa 80 0.036
177
P CNG494 Congenital Disorder of Glycosylation 1aa 13 0.036
178
c ACR084 Aicardi-Goutieres Syndrome 7 21 0.036
179
3MT017 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia 24 0.036
180
MYC002 Mycobacterium Avium Complex Disease 52 0.036
181
c SZR008 Seizures, Benign Neonatal, 1 32 0.036
182
c PNT032 Pontocerebellar Hypoplasia, Type 9 23 0.036
183
HYP266 Hypoxia 56 0.036
184
AMS002 Amish Infantile Epilepsy Syndrome 35 0.036
185
MLY006 Molybdenum Cofactor Deficiency a 30 0.036
186
DWN001 Down Syndrome 66 0.036
187
P DNT015 Dent Disease 61 0.036
188
c CNG200 Congenital Disorder of Glycosylation, Type Iq 27 0.036
189
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 38 0.035
190
c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 24 0.035
191
c CNG379 Congenital Disorder of Glycosylation, Type It 28 0.035
192
c ACR088 Aicardi-Goutieres Syndrome 3 33 0.035
193
CMB026 Combined Oxidative Phosphorylation Deficiency 12 25 0.035
194
VSC047 Vascular Malformation 45 0.035
195
SPC003 Specific Developmental Disorder 38 0.035
196
MVL001 Mevalonic Aciduria 56 0.035
197
P LSS027 Lissencephaly, X-Linked 41 0.035
198
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.035
199
P HMP007 Hemophilia 57 0.035
200
c CNG198 Congenital Disorder of Glycosylation, Type Il 21 0.035
201
EST005 Esotropia 41 0.035
202
c LSS025 Lissencephaly 5 23 0.035
203
BRN028 Brain Cancer 70 0.035
204
CYT008 Cytomegalovirus Infection 52 0.035
205
RCH001 Richter's Syndrome 45 0.035
206
MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 25 0.035
207
c MNT207 Mental Retardation, X-Linked, Syndromic 32 24 0.035
208
MPL011 Maple Syrup Urine Disease, Mild Variant 14 0.035
209
MCR013 Microphthalmia 60 0.034
210
HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 24 0.034
211
BNS003 Binswanger's Disease 42 0.034
212
GTL001 Gitelman Syndrome 61 0.034
213
c MNT272 Mental Retardation, Autosomal Dominant 41 12 0.034
214
P MRN003 Marinesco-Sjogren Syndrome 33 0.034
215
CMB054 Combined Oxidative Phosphorylation Deficiency 23 20 0.034
216
c MNT270 Mental Retardation, Autosomal Recessive 53 14 0.034
217
P NRV006 Nervous System Cancer 60 0.034
218
HYP036 Hyperlysinemia 38 0.034
219
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 27 0.034
220
P LRY019 Laryngitis 54 0.034
221
INF129 Infantile Cerebellar-Retinal Degeneration 33 0.034
222
WSM002 Waisman Syndrome 32 0.034
223
3HY006 3-Hydroxyisobutryl-Coa Hydrolase Deficiency 25 0.034
224
SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 21 0.034
225
c TRC078 Trichohepatoenteric Syndrome 2 29 0.034
226
P RCK004 Rickets 61 0.034
227
HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 26 0.034
228
c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 19 0.034
229
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 39 0.034
230
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 34 0.034
231
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 28 0.034
232
EXF001 Exfoliation Syndrome 57 0.034
233
P TRC086 Trichohepatoenteric Syndrome 1 48 0.034
234
LYM040 Lymphoblastic Lymphoma 53 0.034
235
P PLN008 Peeling Skin Syndrome 45 0.034
236
FMR004 Fumarase Deficiency 38 0.034
237
ATX018 Ataxia, Cerebellar, Cayman Type 28 0.034
238
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 23 0.034
239
c MNT221 Mental Retardation, Autosomal Recessive 44 16 0.034
240
c MNT236 Mental Retardation, Autosomal Dominant 39 15 0.034
241
GRW028 Growth Retardation, Developmental Delay, Facial Dysmorphism 23 0.033
242
CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 21 0.033
243
PHS023 Phosphoserine Aminotransferase Deficiency 20 0.033
244
c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 18 0.033
245
THY030 Thyroid Gland Disease 48 0.033
246
CHD004 Chudley-Mccullough Syndrome 37 0.033
247
c SZR013 Seizures, Benign Neonatal, Type 2 32 0.033
248
MHR002 Mohr Syndrome 28 0.033
249
MTC060 Mitochondrial Dna Depletion Syndrome 9 26 0.033
250
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 22 0.033
251
c SYN080 Syndromic X-Linked Intellectual Disability 34 13 0.033
252
MTC099 Mitochondrial Complex Iii Deficiency, Nuclear Type 5 28 0.033
253
MTC079 Mitochondrial Pyruvate Carrier Deficiency 19 0.033
254
c MRD001 Marden Walker Like Syndrome 14 0.033
255
HYP646 Hypomagnesemia, Seizures, and Mental Retardation 14 0.033
256
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 28 0.033
257
ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22 0.033
258
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 18 0.033
259
c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 16 0.033
260
TMM015 Tmem199-Cdg 13 0.033
261
c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 46 0.033
262
VTM003 Vitamin Metabolic Disorder 30 0.033
263
P HYP014 Hyperuricemia 50 0.032
264
KRT002 Keratomalacia 52 0.032
265
CLF004 Cleft Lip/palate 46 0.032
266
CCD001 Ccdc115-Cdg 12 0.032
267
P RTN024 Retinoblastoma 74 0.032
268
c MNN025 Mannosidosis, Alpha-, Types I and Ii 55 0.032
269
P EXP004 Exophthalmos 53 0.032
270
MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 17 0.032
271
VRH001 Verheij Syndrome 17 0.032
272
ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 7 0.032
273
P SKN013 Skin Benign Neoplasm 43 0.032
274
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 53 0.032
275
DRG001 Drug Psychosis 38 0.032
276
c EPL178 Epileptic Encephalopathy, Early Infantile, 51 13 0.032
277
P EHL001 Ehlers-Danlos Syndrome 63 0.032
278
c CNG204 Congenital Disorder of Glycosylation, Type Iih 31 0.032
279
c CNG199 Congenital Disorder of Glycosylation, Type Im 28 0.032
280
c CNG403 Congenital Disorder of Glycosylation, Type Ix 26 0.032
281
c CNG209 Congenital Disorder of Glycosylation, Type Iif 24 0.032
282
c CNG203 Congenital Disorder of Glycosylation, Type Iii 22 0.032
283
SCH032 Schrander-Stumpel Theunissen Hulsmans Syndrome 3 0.032
284
PRP016 Paraplegia 49 0.031
285
P SZR006 Seizure Disorder 56 0.031
286
PLS025 Plasmablastic Lymphoma 46 0.031
287
c PLN018 Peeling Skin Syndrome 2 40 0.031
288
c CNG416 Congenital Disorder of Glycosylation, Type Iy 25 0.031
289
RTC005 Reticulosarcoma 48 0.031
290
PLC008 Placenta Disease 33 0.031
291
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25 0.031
292
c PLN017 Peeling Skin Syndrome 1 34 0.031
293
KRT009 Keratosis 52 0.031
294
c CNG189 Congenital Disorder of Glycosylation, Type Ib 33 0.031
295
BNF002 Bone Fracture 50 0.031
296
P PNT019 Pontocerebellar Hypoplasia 38 0.031
297
P OCL002 Oculocutaneous Albinism 54 0.031
298
RTC009 Reticulum Cell Sarcoma 47 0.031
299
P ALC004 Alcohol Abuse 59 0.030
300
P ORF001 Orofaciodigital Syndrome 47 0.030
301
c EPL023 Epileptic Encephalopathy, Early Infantile, 11 23 0.030
302
c CNG031 Congenital Nervous System Abnormality 37 0.030
303
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 33 0.030
304
c EPL024 Epileptic Encephalopathy, Early Infantile, 12 22 0.030
305
c JBR037 Joubert Syndrome 26 17 0.030
306
c JBR039 Joubert Syndrome 28 16 0.030
307
c MNT227 Mental Retardation, Autosomal Recessive 46 19 0.030
308
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 51 0.030
309
c CNG194 Congenital Disorder of Glycosylation, Type Ig 26 0.030
310
c CNG193 Congenital Disorder of Glycosylation, Type Ip 23 0.030
311
c PNT039 Pontocerebellar Hypoplasia, Type 7 19 0.030
312
CRD119 Cardiac Arrest 61 0.030
313
c PLN021 Peeling Skin Syndrome 3 29 0.030
314
CHR066 Chronic Fatigue Syndrome 64 0.030
315
c CNG195 Congenital Disorder of Glycosylation, Type Id 30 0.030
316
c CNG205 Congenital Disorder of Glycosylation, Type Ij 28 0.030
317
c CNG388 Congenital Disorder of Glycosylation, Type Iw 24 0.030
318
c CNG414 Congenital Disorder of Glycosylation, Type Iil 24 0.030
319
c CNG207 Congenital Disorder of Glycosylation, Type Io 23 0.030
320
c JBR038 Joubert Syndrome 27 17 0.030
321
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 52 0.030
322
c JBR014 Joubert Syndrome 9 25 0.030
323
P BPL003 Bipolar Disorder 62 0.029
324
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 50 0.029
325
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.029
326
P CHR084 Chromosomal Disease 32 0.029
327
c CNG191 Congenital Disorder of Glycosylation, Type Iia 31 0.029
328
HYP080 Hypogonadism 53 0.029
329
HNT002 Hantavirus Pulmonary Syndrome 51 0.029
330
c EPL082 Epileptic Encephalopathy, Early Infantile, 13 19 0.029
331
c MCR320 Microcephaly 17, Primary, Autosomal Recessive 17 0.029
332
c JBR018 Joubert Syndrome 4 26 0.029
333
c CNG201 Congenital Disorder of Glycosylation, Type Iij 24 0.029
334
c CNG378 Congenital Disorder of Glycosylation, Type Ir 19 0.029
335
SBS003 Substance Abuse 54 0.029
336
c JBR016 Joubert Syndrome 10 26 0.029
337
c JBR030 Joubert Syndrome 22 22 0.029
338
c CNG386 Congenital Disorder of Glycosylation, Type Iu 21 0.029
339
c JBR028 Joubert Syndrome 13 21 0.029
340
SLP001 Sleeping Sickness 48 0.029
341
c CNG197 Congenital Disorder of Glycosylation, Type Ih 33 0.029
342
c MNT241 Mental Retardation, Autosomal Dominant 32 20 0.029
343
ALB002 Albinism 46 0.029
344
TRF001 Trifunctional Protein Deficiency 55 0.029
345
c PRX045 Peroxisome Biogenesis Disorder 1b 52 0.029
346
YNG002 Young Syndrome 26 0.029
347
CHR103 Charge Syndrome 62 0.029
348
ASP002 Aspartylglucosaminuria 55 0.029
349
NRF007 Neurofibroma 53 0.029
350
P JBR017 Joubert Syndrome-3 26 0.029
351
P DMN001 Diamond-Blackfan Anemia 69 0.029
352
c SCH069 Schindler Disease, Type I 32 0.029
353
c JBR011 Joubert Syndrome 7 24 0.028
354
CRD001 Cardiac Tamponade 44 0.028
355
HYD012 Hydrops Fetalis 43 0.028
356
c JBR012 Joubert Syndrome 5 28 0.028
357
c JBR013 Joubert Syndrome 8 24 0.028
358
c JBR004 Joubert Syndrome 2 33 0.028
359
c CNG411 Congenital Disorder of Glycosylation, Type in 49 0.028
360
c JBR022 Joubert Syndrome 20 25 0.028
361
c JBR021 Joubert Syndrome 18 24 0.028
362
c MNT265 Mental Retardation, X-Linked, Syndromic, 33 12 0.028
363
MLT135 Multiple Sulfatase Deficiency 53 0.028
364
c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 33 0.028
365
c OPT064 Optic Atrophy 11 18 0.028
366
c HYP701 Hypomyelinating Leukodystrophy 13 16 0.028
367
P LCT001 Lactic Acidosis 51 0.028
368
c EPL130 Epileptic Encephalopathy, Early Infantile, 26 20 0.028
369
c HYP702 Hypomyelinating Leukodystrophy 12 12 0.028
370
ECT006 Ectodermal Dysplasia 52 0.028
371
P LSS002 Lissencephaly 49 0.028
372
SPN040 Spinal Cancer 39 0.028
373
SBC025 Subcortical Arteriosclerotic Encephalopathy 16 0.028
374
c LSS035 Lissencephaly 8 12 0.028
375
P DST002 Distal Arthrogryposis 56 0.028
376
c HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 49 0.028
377
ACR008 Acrocallosal Syndrome 52 0.027
378
P GNT008 Giant Cell Tumor 49 0.027
379
c GM1005 Gm1-Gangliosidosis, Type Ii 33 0.027
380
c ACR081 Aicardi-Goutieres Syndrome 6 31 0.027
381
P PRD006 Prader-Willi Syndrome 62 0.027
382
OCC006 Occipital Horn Syndrome 44 0.027
383
GST071 Gastrointestinal Carcinoma 42 0.027
384
c MNT198 Mental Retardation, X-Linked 98 25 0.027
385
P NNT009 Neonatal Diabetes Mellitus 52 0.027
386
SSM001 Sesame Syndrome 52 0.027
387
MTC020 Mitochondrial Complex Ii Deficiency 50 0.027
388
CHR003 Cherubism 50 0.027
389
KWS001 Kwashiorkor 40 0.027
390
c ACR090 Aicardi-Goutieres Syndrome 2 33 0.027
391
c EPL154 Epilepsy, Progressive Myoclonic, 9 22 0.027
392
MLT001 Multiple Chemical Sensitivity 43 0.027
393
c PRX055 Peroxisome Biogenesis Disorder 11a 31 0.027
394
c PRX060 Peroxisome Biogenesis Disorder 5a 29 0.027
395
c PRX063 Peroxisome Biogenesis Disorder 2a 28 0.027
396
c PRX054 Peroxisome Biogenesis Disorder 12a 25 0.027
397
c PRX061 Peroxisome Biogenesis Disorder 8a, 25 0.027
398
P PRX051 Peroxisome Biogenesis Disorder 6a 25 0.027
399
c PRX052 Peroxisome Biogenesis Disorder 13a 24 0.027
400
c ACR092 Aicardi-Goutieres Syndrome 5 30 0.027
401
c NPH067 Nephronophthisis 12 23 0.027
402
P PTT014 Pitt-Hopkins Syndrome 47 0.027
403
c PRX059 Peroxisome Biogenesis Disorder 1a 39 0.027
404
c 3MT020 3-Methylglutaconic Aciduria 8 14 0.027
405
UTR033 Uterine Corpus Cancer 49 0.027
406
P BCL005 B Cell Prolymphocytic Leukemia 43 0.027
407
c SCH051 Schizophrenia 4 28 0.027
408
c PNT033 Pontocerebellar Hypoplasia, Type 10 24 0.027
409
CMM005 Common Cold 59 0.027
410
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 53 0.027
411
FBR019 Fibromatosis 43 0.027
412
c LSS012 Lissencephaly, X-Linked 2 24 0.027
413
ISV001 Isovaleric Acidemia 51 0.027
414
ALL001 Allan-Herndon-Dudley Syndrome 46 0.027
415
c NTR038 Neutropenia, Severe Congenital 3, Autosomal Recessive 41 0.027
416
c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25 0.027
417
P HYP027 Hypobetalipoproteinemia 53 0.027
418
SPN035 Spindle Cell Sarcoma 47 0.027
419
c ACR091 Aicardi-Goutieres Syndrome 4 35 0.027
420
HRT003 Heart Lymphoma 30 0.027
421
P HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 28 0.027
422
c LSS009 Lissencephaly 3 24 0.027
423
c NPH071 Nephronophthisis 14 24 0.027
424
c CLD010 Cold-Induced Sweating Syndrome 1 42 0.026
425
CLN005 Colon Lymphoma 35 0.026
426
c MNT149 Mental Retardation, X-Linked 3 29 0.026
427
c PRX057 Peroxisome Biogenesis Disorder 4a 25 0.026
428
P SCH018 Schizencephaly 52 0.026
429
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 25 0.026
430
CHR072 Chordoma 61 0.026
431
CLF027 Cleft Palate, Isolated 55 0.026
432
BLR007 Biliary Tract Neoplasm 49 0.026
433
SBS004 Substance Dependence 47 0.026
434
P ICH001 Ichthyosis Vulgaris 46 0.026
435
c L2H001 L-2-Hydroxyglutaric Aciduria 42 0.026
436
c LKD008 Leukodystrophy, Hypomyelinating, 4 35 0.026
437
DMN012 Dementia - Subcortical 13 0.026
438
P GNG025 Gingival Fibromatosis 50 0.026
439
P FTL009 Fetal Akinesia Deformation Sequence 50 0.026
440
PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 39 0.026
441
GLL028 Gillespie Syndrome 38 0.026
442
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 38 0.026
443
ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 38 0.026
444
c 3MT014 3-Methylglutaconic Aciduria, Type V 36 0.026
445
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 30 0.026
446
c HYP302 Hypomagnesemia 4, Renal 24 0.026
447
c PRX046 Peroxisome Biogenesis Disorder 7a 24 0.026
448
c HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 20 0.026
449
P PRT096 Peritoneal Mesothelioma 52 0.026
450
ACR006 Aceruloplasminemia 45 0.026
451
GLY014 Glycerol Kinase Deficiency 44 0.026
452
MTS001 Mutism 43 0.026
453
c PRX065 Peroxisome Biogenesis Disorder 3a 28 0.026
454
c PRX048 Peroxisome Biogenesis Disorder 10a 24 0.026
455
c MCR282 Microcephaly and Chorioretinopathy 1 6 0.026
456
c MCR283 Microcephaly and Chorioretinopathy 2 6 0.026
457
GRG001 Greig Cephalopolysyndactyly Syndrome 51 0.026
458
c MLG002 Malignant Peritoneal Mesothelioma 46 0.026
459
HST016 Histiocytic Sarcoma 40 0.026
460
HRT011 Heart Septal Defect 40 0.026
461
P SYR003 Syringoma 37 0.026
462
NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 27 0.026
463
PLY117 Polymicrogyria, Bilateral Frontoparietal 26 0.026
464
MTC058 Mitochondrial Dna Depletion Syndrome 6 26 0.026
465
PNC013 Pancreatic Ductal Carcinoma 46 0.025
466
SYR002 Syringocystadenoma Papilliferum 41 0.025
467
LGH016 Leigh Syndrome, French-Canadian Type 26 0.025
468
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 25 0.025
469
DYG001 Dyggve-Melchior-Clausen Disease 24 0.025
470
BRN069 Brain and Spinal Tumors 12 0.025
471
GLL032 Galloway-Mowat Syndrome 51 0.025
472
RHB001 Rhabdoid Cancer 50 0.025
473
TMP001 Temporal Lobe Epilepsy 50 0.025
474
ANG018 Angiomyolipoma 46 0.025
475
ACR012 Aicardi Syndrome 46 0.025
476
CTY001 Cat Eye Syndrome 43 0.025
477
PLM019 Pleomorphic Liposarcoma 43 0.025
478
RNL025 Renal Hypoplasia 42 0.025
479
PSD009 Pseudohermaphroditism 40 0.025
480
ADR023 Adrenomyodystrophy 24 0.025
481
P MSC094 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11 23 0.025
482
LRY047 Laryngeal Abductor Paralysis 22 0.025
483
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 21 0.025
484
c SZR014 Seizures, Benign Familial Infantile, 1 20 0.025
485
CMB052 Combined Oxidative Phosphorylation Deficiency 20 17 0.025
486
ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 11 0.025
487
WLF002 Wolf-Hirschhorn Syndrome 49 0.025
488
P MRD002 Marden-Walker Syndrome 46 0.025
489
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 38 0.025
490
DYS003 Dysgraphia 36 0.025
491
c RTT008 Rett Syndrome, Congenital Variant 24 0.025
492
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 24 0.025
493
MLY007 Molybdenum Cofactor Deficiency C 21 0.025
494
P ACT105 Acute Mountain Sickness 52 0.025
495
SMT006 Somatoform Disorder 50 0.025
496
DSM007 Desmoplastic Small Round Cell Tumor 47 0.025
497
ADR021 Adrenocorticotropic Hormone Deficiency 45 0.025
498
HMH002 Hemihypertrophy 41 0.025
499
WSS003 Weissenbacher-Zweymuller Syndrome 41 0.025
500
MTC008 Mitochondrial Complex Iii Deficiency 40 0.025
501
PRV003 Perivascular Epithelioid Cell Tumor 39 0.025
502
EPD019 Epidural Neoplasm 33 0.025
503
PHS005 Peho Syndrome 31 0.025
504
CMB017 Combined Oxidative Phosphorylation Deficiency 6 25 0.025
505
c MNT166 Mental Retardation, Autosomal Recessive 39 19 0.025
506
c PRV018 Periventricular Nodular Heterotopia 7 11 0.025
507
HYP077 Hypertrichosis 44 0.025
508
PRX014 Proximal Spinal Muscular Atrophy 36 0.025
509
CRT012 Cortical Blindness 35 0.025
510
2MT004 2-Methylbutyrylglycinuria 32 0.025
511
CNG065 Congenital Contractures 29 0.025
512
PYR009 Pyridoxine Deficiency Anemia 18 0.025
513
HMM003 Hemimegalencephaly 45 0.024
514
LYM006 Lymphoepithelioma-Like Carcinoma 43 0.024
515
MCN008 Mucinous Cystadenocarcinoma 39 0.024
516
MDN005 Mednik Syndrome 39 0.024
517
CRB070 Cerebral Folate Deficiency 39 0.024
518
MLG098 Malignant Mixed Mullerian Tumor 36 0.024
519
EXT052 Extraskeletal Ewing Sarcoma 34 0.024
520
ADN014 Adenomatoid Tumor 34 0.024
521
END001 Endometrial Mucinous Adenocarcinoma 31 0.024
522
SRC001 Sarcomatoid Mesothelioma 30 0.024
523
PHS022 Phosphoserine Phosphatase Deficiency 30 0.024
524
ISC003 Ischemic Fasciitis 29 0.024
525
CLB026 Colobomatous Microphthalmia 29 0.024
526
c NLD005 Nail Disorder, Nonsyndromic Congenital, 10, 26 0.024
527
CMB018 Combined Oxidative Phosphorylation Deficiency 7 21 0.024
528
c CRB099 Cerebrooculofacioskeletal Syndrome 3 18 0.024
529
SCR025 Scarf Syndrome 17 0.024
530
SLC034 Slc39a8-Cdg 16 0.024
531
ATS001 Autistic Disorder 63 0.024
532
DDF001 Dedifferentiated Liposarcoma 43 0.024
533
CRV033 Cervical Adenosquamous Carcinoma 40 0.024
534
SCK001 Sick Building Syndrome 38 0.024
535
GBT001 Gaba-Transaminase Deficiency 27 0.024
536
MCR257 Microcephaly, Amish Type 24 0.024
537
CMB043 Combined Oxidative Phosphorylation Deficiency 9 20 0.024
538
PNC049 Pancreatic Adenoma 18 0.024
539
HYD030 Hydroxykynureninuria 18 0.024
540
LPY002 Lipoyltransferase 1 Deficiency 17 0.024
541
MTC067 Metachromatic Leukodystrophy Due to Sap-B Deficiency 17 0.024
542
THY021 Thyroid Malformation 11 0.024
543
SYN005 Synostosis 46 0.024
544
AGR002 Agoraphobia 44 0.024
545
OPD001 Opioid Abuse 40 0.024
546
OST032 Osteofibrous Dysplasia 38 0.024
547
c RNG004 Ring Chromosome 1 33 0.024
548
LCT005 Lacticacidemia Due to Pdx1 Deficiency 28 0.024
549
ATH004 Athetosis 26 0.024
550
5XP001 5-Oxoprolinase Deficiency 24 0.024
551
KPP002 Keppen-Lubinsky Syndrome 21 0.024
552
c CLD016 Cold-Induced Sweating Syndrome 2 20 0.024
553
CRN042 Carnosinemia 19 0.024
554
CMB051 Combined Oxidative Phosphorylation Deficiency 21 19 0.024
555
RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 18 0.024
556
BSL040 Basel-Vanagait-Smirin-Yosef Syndrome 17 0.024
557
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 17 0.024
558
PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 16 0.024
559
FCL014 Focal Epilepsy 55 0.024
560
CCN001 Cocaine Dependence 49 0.024
561
MTN003 Motion Sickness 48 0.024
562
c CRB101 Cerebrooculofacioskeletal Syndrome 1 36 0.024
563
OCL034 Oculocerebrocutaneous Syndrome 27 0.024
564
PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 27 0.024
565
KRT014 Keratosis Follicularis Spinulosa Decalvans 25 0.024
566
PNT009 Pontine Tegmental Cap Dysplasia 24 0.024
567
MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 23 0.024
568
CHR523 Chromosome 15q11.2 Deletion Syndrome 23 0.024
569
PYR030 Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency 22 0.024
570
c CRB098 Cerebrooculofacioskeletal Syndrome 2 21 0.024
571
LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 21 0.024
572
MTC092 Mitochondrial Complex Deficiency, Nuclear Type 4 20 0.024
573
P PRV016 Periventricular Nodular Heterotopia 6 20 0.024
574
CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 16 0.024
575
ENC046 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy 9 0.024
576
3PS001 3p- Syndrome 38 0.024
577
BNS004 Bone Squamous Cell Carcinoma 36 0.024
578
HRD005 Hard Palate Cancer 30 0.024
579
CHR518 Chromosome 9p Deletion Syndrome 30 0.024
580
BPH002 Biphasic Synovial Sarcoma 27 0.024
581
BNB002 Bainbridge-Ropers Syndrome 24 0.024
582
c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 19 0.024
583
XGB001 Xia-Gibbs Syndrome 16 0.024
584
HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 12 0.024
585
INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 9 0.024
586
NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 8 0.024
587
OPT003 Opiate Dependence 50 0.023
588
P MSN005 Mesenchymal Chondrosarcoma 38 0.023
589
CTN012 Cutaneous Leiomyosarcoma 33 0.023
590
ADH001 Adhesions of Uterus 33 0.023
591
OSS002 Ossifying Fibromyxoid Tumor 27 0.023
592
PRC011 Parachordoma 26 0.023
593
VND005 Van Den Ende-Gupta Syndrome 24 0.023
594
P CRB100 Cerebrooculofacioskeletal Syndrome 4 22 0.023
595
IMM061 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome-2 18 0.023
596
CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 17 0.023
597
IMM141 Immunodeficiency 49 17 0.023
598
QZM001 Qazi Markouizos Syndrome 10 0.023
599
EPL166 Epilepsy, Early-Onset, Vitamin B6-Dependent 10 0.023
600
ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 8 0.023
601
MRP001 Morphine Dependence 43 0.023
602
CHL040 Cholangiolocellular Carcinoma 29 0.023
603
SPN009 Spindle Cell Rhabdomyosarcoma 28 0.023
604
MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 22 0.023
605
SPN048 Spindle Cell Thymoma 20 0.023
606
VLV039 Vulvar Seborrheic Keratosis 20 0.023
607
MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 19 0.023
608
MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 17 0.023
609
GBM001 Gaba Aminotransferase Deficiency 16 0.023
610
MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 16 0.023
611
IMM133 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 9 0.023
612
MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 8 0.023
613
SPS202 Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome 5 0.023
614
ELL003 Elliott Ludman Teebi Syndrome 4 0.023
615
MGR005 Megarbane Syndrome 4 0.023
616
TRP015 Triphalangeal Thumb 27 0.023
617
CD3004 Cd3epsilon Deficiency 22 0.023
618
MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 17 0.023
619
MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 17 0.023
620
c INF065 Infantile Hypotonia 17 0.023
621
CQ7001 Coq7-Related Coenzyme Q10 Deficiency 10 0.023
622
MCR061 Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 9 0.023
623
ALZ044 Alazami-Yuan Syndrome 8 0.023
624
INT310 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 7 0.023
625
SYM004 Say Meyer Syndrome 6 0.023
626
HYP659 Hypomyelinating Leukoencephalopathy 17 0.022
627
CHR499 Chromosome 16q22 Deletion Syndrome 13 0.022
628
GLY094 Glycine Encephalopathy with Normal Serum Glycine 8 0.022
629
VND006 Van Den Ende-Gupta Sndrome 6 0.022
630
CRB012 Cerebral Folate Receptor Alpha Deficiency 4 0.022
Content
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