Search results for "psychomotor disease"

The MalaCard for "psychomotor disease" has been retired.
Searching MalaCards for entries containing "psychomotor disease"

558 hits were found for 'psychomotor disease'

# Family MCID Name MIFTS Score
1
MSS001 Masa Syndrome 49 1.643
2
INF150 Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5 1.491
3
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 38 0.104
4
P THY032 Thyroiditis 57 0.099
5
P HYP265 Hypotonia 39 0.097
6
P EPL164 Epilepsy 60 0.091
7
NRN002 Neuronitis 40 0.090
8
PLY030 Polydactyly Cleft Lip Palate Psychomotor Retardation 11 0.090
9
P ENC018 Encephalopathy 59 0.090
10
ALR002 Al-Raqad Syndrome 36 0.087
11
P MCR010 Microcephaly 60 0.085
12
RSP006 Respiratory System Disease 61 0.084
13
P NRV007 Nervous System Disease 71 0.078
14
DMN002 Dementia 62 0.076
15
PHY002 Physical Disorder 43 0.074
16
RTN023 Retinitis 49 0.073
17
P INT063 Intellectual Disability 46 0.073
18
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 16 0.073
19
ANR016 Aniridia Renal Agenesis Psychomotor Retardation 5 0.073
20
SLP005 Sleep Disorder 52 0.072
21
BSL008 Basal Ganglia Disease 40 0.071
22
HYP650 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 28 0.070
23
CRB009 Cerebritis 36 0.068
24
P OBS005 Obesity 91 0.068
25
DFC004 Deficiency Anemia 64 0.067
26
c PND001 Pain Disorder 53 0.067
27
P ATX004 Ataxia 53 0.067
28
ANR002 Aniridia 62 0.064
29
NTR005 Nutritional Deficiency Disease 51 0.064
30
P HYP086 Hypothyroidism 63 0.064
31
P MYP004 Myopathy 67 0.064
32
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 32 0.062
33
P TYS001 Tay-Sachs Disease 72 0.061
34
PCK002 Pick Disease 66 0.061
35
P BRS047 Breast Cancer 100 0.060
36
P DRV001 Dravet Syndrome 66 0.060
37
SPS057 Spasticity 41 0.060
38
LRN003 Learning Disability 49 0.060
39
P MSC033 Muscle Disorders 52 0.059
40
MTC056 Mitochondrial Dna Depletion Syndrome 4a 45 0.059
41
END040 Endogenous Depression 51 0.058
42
AYM001 Ayme-Gripp Syndrome 40 0.058
43
DSS008 Disease of Mental Health 48 0.057
44
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 35 0.057
45
ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 15 0.057
46
P PLY006 Polydactyly 56 0.057
47
ALP008 Alopecia 56 0.057
48
CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 8 0.056
49
HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 7 0.056
50
P MSC005 Muscular Dystrophy 64 0.056
51
CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 9 0.056
52
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 42 0.056
53
MLN003 Melancholia 36 0.056
54
P SCH015 Schizophrenia 78 0.055
55
P SLP006 Sleep Apnea 60 0.055
56
OBS061 Obstructive Sleep Apnea 61 0.054
57
CHL071 Child Syndrome 58 0.053
58
P MYM002 Moyamoya Disease 60 0.053
59
KDS001 Kid Syndrome 53 0.053
60
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 32 0.053
61
c JBR020 Joubert Syndrome 1 57 0.053
62
ATN002 Autonomic Nervous System Disease 46 0.052
63
IRN001 Iron Deficiency Anemia 51 0.052
64
P RNL100 Renal Hypodysplasia/aplasia 1 54 0.052
65
P CRB042 Cerebellar Ataxia 64 0.051
66
ADN022 Adenylosuccinase Deficiency 35 0.051
67
ALN001 Aland Island Eye Disease 45 0.051
68
BRS051 Breast Disease 57 0.051
69
ACD009 Acid-Labile Subunit, Deficiency of 37 0.050
70
c CRN174 Coronary Heart Disease 2 19 0.050
71
CLF001 Cleft Lip 48 0.050
72
c CNG415 Congenital Disorder of Glycosylation, Type Ia 46 0.050
73
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 28 0.050
74
P LGH007 Leigh Syndrome 70 0.050
75
CNS004 Constipation 57 0.050
76
c 3MT015 3-Methylglutaconic Aciduria, Type I 35 0.049
77
P SPS003 Spastic Diplegia 49 0.049
78
MSC004 Muscle Tissue Disease 35 0.049
79
c EPL117 Epileptic Encephalopathy, Early Infantile, 16 25 0.049
80
P PNC044 Pancreatitis 62 0.049
81
P CTR002 Cataract 57 0.049
82
c HMP029 Hemophilia a 61 0.049
83
3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 23 0.049
84
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 41 0.048
85
c GM1004 Gm1-Gangliosidosis, Type I 40 0.048
86
c ORF034 Orofaciodigital Syndrome Vi 30 0.048
87
P SCL018 Scoliosis 56 0.047
88
c CNG206 Congenital Disorder of Glycosylation, Type Ie 49 0.047
89
c CNG006 Congenital Hypothyroidism 59 0.047
90
P FCS002 Fucosidosis 57 0.047
91
c CNG475 Congenital Disorder of Glycosylation 2p 19 0.046
92
P CNG474 Congenital Disorder of Glycosylation 2o 16 0.046
93
P NRX001 Neuroaxonal Dystrophy 32 0.046
94
CMP006 Complex Partial Epilepsy 30 0.046
95
PLY024 Polymicrogyria 34 0.046
96
P RTT002 Rett Syndrome 77 0.046
97
c MCR228 Microphthalmia, Syndromic 13 22 0.045
98
PSY004 Psychotic Disorder 62 0.045
99
GNT031 Genitopatellar Syndrome 41 0.045
100
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 24 0.045
101
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 24 0.045
102
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 40 0.044
103
VCS001 Vici Syndrome 50 0.044
104
P PLZ001 Pelizaeus-Merzbacher Disease 63 0.044
105
P GNG009 Gangliosidosis 58 0.044
106
P RTN016 Retinal Degeneration 50 0.044
107
c CRN214 Coronary Heart Disease 5 22 0.044
108
P ALX003 Alexander Disease 64 0.044
109
MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 22 0.043
110
c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 23 0.043
111
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 24 0.043
112
AMN007 Aminoacylase 1 Deficiency 29 0.043
113
CRB045 Cerebellar Hypoplasia 47 0.043
114
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 58 0.043
115
P CTS001 Cutis Laxa 57 0.043
116
P ART023 Arthropathy 63 0.042
117
PHS021 Phosphoglycerate Dehydrogenase Deficiency 28 0.042
118
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 27 0.042
119
DCH001 Duchenne Muscular Dystrophy 81 0.042
120
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 23 0.042
121
GNR004 Generalized Anxiety Disorder 49 0.042
122
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 32 0.042
123
ASP024 Asparagine Synthetase Deficiency 28 0.042
124
P RTN008 Retinitis Pigmentosa 78 0.042
125
c CLD010 Cold-Induced Sweating Syndrome 1 43 0.042
126
JBR034 Joubert Syndrome with Orofaciodigital Defect 34 0.041
127
WST001 West Syndrome 61 0.041
128
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 26 0.041
129
ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 8 0.041
130
URB001 Urbach-Wiethe Disease 48 0.041
131
c CNG185 Congenital Disorder of Glycosylation, Type Iig 26 0.041
132
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 28 0.041
133
ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 17 0.041
134
OSS013 Ossification Anomalies-Psychomotor Development Delay Syndrome 5 0.041
135
c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 22 0.041
136
MLT021 Multiple System Atrophy 71 0.041
137
DRG001 Drug Psychosis 39 0.041
138
P ORF001 Orofaciodigital Syndrome 43 0.041
139
c CNG187 Congenital Disorder of Glycosylation, Type Iid 32 0.041
140
ADJ001 Adjustment Disorder 38 0.041
141
DVL001 Developmental Coordination Disorder 36 0.040
142
NRR002 Norrie Disease 60 0.040
143
c PNT035 Pontocerebellar Hypoplasia, Type 1c 21 0.040
144
c CNG196 Congenital Disorder of Glycosylation, Type Ic 30 0.040
145
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26 0.040
146
c CNG192 Congenital Disorder of Glycosylation, Type Ik 26 0.040
147
P MCP010 Mucopolysaccharidosis 58 0.040
148
c CNG208 Congenital Disorder of Glycosylation, Type Iic 31 0.040
149
c SPS103 Spastic Paraplegia 50, Autosomal Recessive 26 0.040
150
c CNG188 Congenital Disorder of Glycosylation, Type if 27 0.040
151
VTM002 Vitamin B12 Deficiency 45 0.040
152
GNG013 Gingivitis 61 0.040
153
MDD011 Mood Disorder 60 0.040
154
ADN018 Adenoma 59 0.039
155
OBS015 Obesity, Hyperphagia, and Developmental Delay 35 0.039
156
c JBR026 Joubert Syndrome 15 25 0.039
157
c JBR031 Joubert Syndrome 21 23 0.039
158
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 21 0.039
159
P STR020 Strabismus 55 0.039
160
SCR035 Sacral Agenesis with Vertebral Anomalies 30 0.039
161
c CNG383 Congenital Disorder of Glycosylation, Type Iik 26 0.038
162
c JBR015 Joubert Syndrome 6 25 0.038
163
c PNT030 Pontocerebellar Hypoplasia, Type 8 24 0.038
164
P DYS154 Dystonia 62 0.038
165
c EPL102 Epileptic Encephalopathy, Early Infantile, 18 23 0.038
166
CLF027 Cleft Palate, Isolated 56 0.038
167
ANX002 Anxiety Disorder 67 0.038
168
MYC002 Mycobacterium Avium Complex Disease 52 0.038
169
MCR013 Microphthalmia 57 0.038
170
c PNT032 Pontocerebellar Hypoplasia, Type 9 22 0.038
171
P LFR001 Li-Fraumeni Syndrome 79 0.038
172
c SZR008 Seizures, Benign Neonatal, 1 32 0.038
173
c LKD021 Leukodystrophy, Hypomyelinating, 11 17 0.038
174
HYP266 Hypoxia 55 0.038
175
PRD011 Proud Syndrome 42 0.038
176
c EPL119 Epileptic Encephalopathy, Early Infantile, 17 22 0.038
177
c CNG477 Congenital Disorder of Glycosylation 2n 15 0.037
178
CYT008 Cytomegalovirus Infection 51 0.037
179
P ICH001 Ichthyosis Vulgaris 44 0.037
180
3MT017 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia 21 0.037
181
c MYS065 Myasthenic Syndrome, Congenital, 18 19 0.037
182
c MCL013 Mucolipidosis Iv 44 0.037
183
P HMP007 Hemophilia 55 0.037
184
MVL001 Mevalonic Aciduria 53 0.037
185
MLY006 Molybdenum Cofactor Deficiency a 28 0.037
186
c ACR084 Aicardi-Goutieres Syndrome 7 21 0.037
187
CRD002 Cri-Du-Chat Syndrome 48 0.037
188
c ACR088 Aicardi-Goutieres Syndrome 3 29 0.037
189
EST005 Esotropia 39 0.037
190
c CNG200 Congenital Disorder of Glycosylation, Type Iq 27 0.037
191
DWN001 Down Syndrome 65 0.037
192
CMB026 Combined Oxidative Phosphorylation Deficiency 12 25 0.037
193
c LKD020 Leukodystrophy, Hypomyelinating, 10 22 0.037
194
P LRY019 Laryngitis 55 0.037
195
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 56 0.037
196
WLM001 Wolman Disease 55 0.037
197
P DNT015 Dent Disease 61 0.036
198
c CNG379 Congenital Disorder of Glycosylation, Type It 28 0.036
199
P MRN003 Marinesco-Sjogren Syndrome 37 0.036
200
HYP036 Hyperlysinemia 39 0.036
201
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 32 0.036
202
WSM002 Waisman Syndrome 33 0.036
203
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 44 0.036
204
MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 25 0.036
205
MPL011 Maple Syrup Urine Disease, Mild Variant 15 0.036
206
P LSS027 Lissencephaly, X-Linked 42 0.036
207
P NRV006 Nervous System Cancer 62 0.036
208
HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 25 0.036
209
c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 23 0.036
210
c LSS025 Lissencephaly 5 23 0.036
211
c CNG414 Congenital Disorder of Glycosylation, Type Iil 27 0.036
212
VSC047 Vascular Malformation 45 0.036
213
HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 26 0.036
214
MHR002 Mohr Syndrome 29 0.036
215
CMB054 Combined Oxidative Phosphorylation Deficiency 23 20 0.036
216
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 24 0.036
217
SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 21 0.036
218
BNS003 Binswanger's Disease 30 0.035
219
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 27 0.035
220
OST032 Osteofibrous Dysplasia 39 0.035
221
GTL001 Gitelman Syndrome 60 0.035
222
FMR004 Fumarase Deficiency 38 0.035
223
INF129 Infantile Cerebellar-Retinal Degeneration 33 0.035
224
c LKD016 Leukodystrophy, Hypomyelinating, 9 19 0.035
225
BRN028 Brain Cancer 69 0.035
226
P RCK004 Rickets 59 0.035
227
CHD004 Chudley-Mccullough Syndrome 32 0.035
228
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 25 0.035
229
CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 25 0.035
230
c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 19 0.035
231
GRW028 Growth Retardation, Developmental Delay, Facial Dysmorphism 23 0.035
232
c MRD001 Marden Walker Like Syndrome 14 0.035
233
MTC060 Mitochondrial Dna Depletion Syndrome 9 27 0.035
234
3HY006 3-Hydroxyisobutryl-Coa Hydrolase Deficiency 23 0.035
235
c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 17 0.035
236
c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 16 0.035
237
P HYP014 Hyperuricemia 49 0.035
238
THY030 Thyroid Gland Disease 52 0.035
239
MTC099 Mitochondrial Complex Iii Deficiency, Nuclear Type 5 27 0.035
240
PHS023 Phosphoserine Aminotransferase Deficiency 20 0.035
241
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 20 0.035
242
MTC079 Mitochondrial Pyruvate Carrier Deficiency 19 0.035
243
HYP646 Hypomagnesemia, Seizures, and Mental Retardation 13 0.035
244
P TRC086 Trichohepatoenteric Syndrome 1 46 0.034
245
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 29 0.034
246
c SZR013 Seizures, Benign Neonatal, Type 2 22 0.034
247
ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 23 0.034
248
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 18 0.034
249
HRD005 Hard Palate Cancer 30 0.034
250
c TRC078 Trichohepatoenteric Syndrome 2 30 0.034
251
EXF001 Exfoliation Syndrome 56 0.034
252
HMC006 Homocystinuria Due to Mthfr Deficiency 34 0.034
253
P RTN024 Retinoblastoma 75 0.034
254
c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 46 0.034
255
P PLN008 Peeling Skin Syndrome 45 0.034
256
VRH001 Verheij Syndrome 23 0.034
257
MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 15 0.034
258
PRP016 Paraplegia 49 0.033
259
c MNN025 Mannosidosis, Alpha-, Types I and Ii 54 0.033
260
P SKN013 Skin Benign Neoplasm 38 0.033
261
KRT002 Keratomalacia 50 0.033
262
c MNT221 Mental Retardation, Autosomal Recessive 44 17 0.033
263
c MNT236 Mental Retardation, Autosomal Dominant 39 13 0.033
264
SCH032 Schrander-Stumpel Theunissen Hulsmans Syndrome 4 0.033
265
P EXP004 Exophthalmos 56 0.033
266
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 56 0.033
267
VTM003 Vitamin Metabolic Disorder 31 0.033
268
P EHL001 Ehlers-Danlos Syndrome 61 0.033
269
c CNG204 Congenital Disorder of Glycosylation, Type Iih 32 0.033
270
IRN002 Iron Metabolism Disease 38 0.033
271
c CNG209 Congenital Disorder of Glycosylation, Type Iif 26 0.033
272
c CNG403 Congenital Disorder of Glycosylation, Type Ix 28 0.033
273
c CNG203 Congenital Disorder of Glycosylation, Type Iii 23 0.033
274
c CNG435 Congenital Disorder of Glycosylation, Type Iz 19 0.033
275
c CNG199 Congenital Disorder of Glycosylation, Type Im 30 0.032
276
KRT009 Keratosis 50 0.032
277
CHR066 Chronic Fatigue Syndrome 63 0.032
278
P SZR006 Seizure Disorder 56 0.032
279
ANM029 Anemia, Sideroblastic, X-Linked 53 0.032
280
c CNG416 Congenital Disorder of Glycosylation, Type Iy 21 0.032
281
MVD001 Moved to 60 0.032
282
CRD119 Cardiac Arrest 63 0.032
283
P OCL002 Oculocutaneous Albinism 51 0.032
284
c CNG189 Congenital Disorder of Glycosylation, Type Ib 34 0.032
285
c MNT227 Mental Retardation, Autosomal Recessive 46 18 0.032
286
P PNT019 Pontocerebellar Hypoplasia 39 0.032
287
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 54 0.032
288
c PLN018 Peeling Skin Syndrome 2 36 0.031
289
BNF002 Bone Fracture 46 0.031
290
c MNT246 Mental Retardation, Autosomal Dominant 38 19 0.031
291
c CNG412 Congenital Disorder of Glycosylation, Type Ii 46 0.031
292
P ALC004 Alcohol Abuse 57 0.031
293
c CNG193 Congenital Disorder of Glycosylation, Type Ip 27 0.031
294
c CNG194 Congenital Disorder of Glycosylation, Type Ig 27 0.031
295
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 33 0.031
296
c PLN017 Peeling Skin Syndrome 1 32 0.031
297
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25 0.031
298
HYP080 Hypogonadism 54 0.031
299
CRD001 Cardiac Tamponade 43 0.031
300
c CNG031 Congenital Nervous System Abnormality 39 0.031
301
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 51 0.031
302
c CNG195 Congenital Disorder of Glycosylation, Type Id 30 0.031
303
c CNG205 Congenital Disorder of Glycosylation, Type Ij 33 0.031
304
SBS003 Substance Abuse 54 0.031
305
c CNG207 Congenital Disorder of Glycosylation, Type Io 23 0.031
306
c CNG388 Congenital Disorder of Glycosylation, Type Iw 24 0.031
307
KWS001 Kwashiorkor 45 0.031
308
P DST002 Distal Arthrogryposis 54 0.031
309
SLP001 Sleeping Sickness 48 0.031
310
c MNT241 Mental Retardation, Autosomal Dominant 32 19 0.031
311
P BPL003 Bipolar Disorder 58 0.030
312
ASP002 Aspartylglucosaminuria 55 0.030
313
c CNG191 Congenital Disorder of Glycosylation, Type Iia 32 0.030
314
P LCT001 Lactic Acidosis 52 0.030
315
c PNT039 Pontocerebellar Hypoplasia, Type 7 19 0.030
316
ACR008 Acrocallosal Syndrome 51 0.030
317
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 35 0.030
318
P CHR084 Chromosomal Disease 37 0.030
319
c PLN021 Peeling Skin Syndrome 3 30 0.030
320
P DMN001 Diamond-Blackfan Anemia 69 0.030
321
CHR103 Charge Syndrome 64 0.030
322
c EPL024 Epileptic Encephalopathy, Early Infantile, 12 21 0.030
323
ALB002 Albinism 43 0.030
324
c CNG198 Congenital Disorder of Glycosylation, Type Il 25 0.030
325
c CNG201 Congenital Disorder of Glycosylation, Type Iij 26 0.030
326
HYD012 Hydrops Fetalis 45 0.030
327
c JBR018 Joubert Syndrome 4 24 0.030
328
c EPL130 Epileptic Encephalopathy, Early Infantile, 26 19 0.030
329
c CNG378 Congenital Disorder of Glycosylation, Type Ir 21 0.030
330
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 34 0.030
331
c SCH069 Schindler Disease, Type I 29 0.030
332
c JBR016 Joubert Syndrome 10 22 0.030
333
c JBR028 Joubert Syndrome 13 20 0.030
334
c CNG386 Congenital Disorder of Glycosylation, Type Iu 21 0.030
335
c JBR030 Joubert Syndrome 22 20 0.030
336
YNG002 Young Syndrome 25 0.030
337
c CNG197 Congenital Disorder of Glycosylation, Type Ih 33 0.030
338
c JBR014 Joubert Syndrome 9 23 0.030
339
MLT135 Multiple Sulfatase Deficiency 52 0.030
340
c PRX045 Peroxisome Biogenesis Disorder 1b 50 0.030
341
c EPL023 Epileptic Encephalopathy, Early Infantile, 11 22 0.030
342
TRF001 Trifunctional Protein Deficiency 54 0.029
343
c CNG411 Congenital Disorder of Glycosylation, Type in 46 0.029
344
c EPL082 Epileptic Encephalopathy, Early Infantile, 13 18 0.029
345
AMS002 Amish Infantile Epilepsy Syndrome 34 0.029
346
c JBR004 Joubert Syndrome 2 31 0.029
347
P PRD006 Prader-Willi Syndrome 64 0.029
348
P JBR017 Joubert Syndrome-3 25 0.029
349
ECT006 Ectodermal Dysplasia 46 0.029
350
OCC006 Occipital Horn Syndrome 47 0.029
351
SPN050 Spinocerebellar Degeneration 39 0.029
352
c JBR012 Joubert Syndrome 5 28 0.029
353
CMM005 Common Cold 58 0.029
354
c JBR011 Joubert Syndrome 7 23 0.029
355
c JBR013 Joubert Syndrome 8 21 0.029
356
c JBR025 Joubert Syndrome 17 20 0.029
357
c JBR021 Joubert Syndrome 18 23 0.029
358
c JBR022 Joubert Syndrome 20 22 0.029
359
SSM001 Sesame Syndrome 53 0.029
360
c HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 50 0.029
361
UTR033 Uterine Corpus Cancer 50 0.029
362
SBC025 Subcortical Arteriosclerotic Encephalopathy 16 0.029
363
ALL001 Allan-Herndon-Dudley Syndrome 46 0.029
364
c GM1005 Gm1-Gangliosidosis, Type Ii 33 0.029
365
P HYP027 Hypobetalipoproteinemia 52 0.029
366
MTC020 Mitochondrial Complex Ii Deficiency 50 0.029
367
c PRX055 Peroxisome Biogenesis Disorder 11a 33 0.029
368
c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 18 0.029
369
CNT018 Central Nervous System Leukemia 38 0.029
370
P PTT014 Pitt-Hopkins Syndrome 51 0.028
371
P SCH018 Schizencephaly 51 0.028
372
c ACR090 Aicardi-Goutieres Syndrome 2 30 0.028
373
SPN040 Spinal Cancer 43 0.028
374
c PRX061 Peroxisome Biogenesis Disorder 8a, 26 0.028
375
c PNT033 Pontocerebellar Hypoplasia, Type 10 24 0.028
376
c MNT265 Mental Retardation, X-Linked, Syndromic, 33 11 0.028
377
SBS004 Substance Dependence 48 0.028
378
ISV001 Isovaleric Acidemia 52 0.028
379
CHR003 Cherubism 50 0.028
380
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 52 0.028
381
P HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 29 0.028
382
c PRX060 Peroxisome Biogenesis Disorder 5a 31 0.028
383
c PRX063 Peroxisome Biogenesis Disorder 2a 27 0.028
384
c PRX054 Peroxisome Biogenesis Disorder 12a 26 0.028
385
P PRX051 Peroxisome Biogenesis Disorder 6a 26 0.028
386
c PRX052 Peroxisome Biogenesis Disorder 13a 24 0.028
387
c ACR092 Aicardi-Goutieres Syndrome 5 27 0.028
388
c NPH067 Nephronophthisis 12 23 0.028
389
P NNT009 Neonatal Diabetes Mellitus 50 0.028
390
FBR019 Fibromatosis 40 0.028
391
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 24 0.028
392
P FTL009 Fetal Akinesia Deformation Sequence 51 0.028
393
c NTR038 Neutropenia, Severe Congenital 3, Autosomal Recessive 42 0.028
394
c PRX059 Peroxisome Biogenesis Disorder 1a 27 0.028
395
MTS001 Mutism 38 0.028
396
MLT001 Multiple Chemical Sensitivity 43 0.028
397
WLF002 Wolf-Hirschhorn Syndrome 50 0.028
398
c ACR081 Aicardi-Goutieres Syndrome 6 26 0.028
399
c EPL154 Epilepsy, Progressive Myoclonic, 9 22 0.028
400
c ACR091 Aicardi-Goutieres Syndrome 4 30 0.028
401
HYP377 Hypomyelination, Global Cerebral 30 0.028
402
c LSS012 Lissencephaly, X-Linked 2 23 0.028
403
c SCH051 Schizophrenia 4 36 0.028
404
c MNT198 Mental Retardation, X-Linked 98 22 0.028
405
ACR006 Aceruloplasminemia 46 0.027
406
c NPH071 Nephronophthisis 14 25 0.027
407
c MNT149 Mental Retardation, X-Linked 3 29 0.027
408
GLY014 Glycerol Kinase Deficiency 46 0.027
409
c PRX057 Peroxisome Biogenesis Disorder 4a 26 0.027
410
RCH001 Richter's Syndrome 45 0.027
411
DMN012 Dementia - Subcortical 12 0.027
412
ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 36 0.027
413
WLL004 Wallerian Degeneration 34 0.027
414
c L2H001 L-2-Hydroxyglutaric Aciduria 42 0.027
415
P ACT105 Acute Mountain Sickness 55 0.027
416
SMT006 Somatoform Disorder 52 0.027
417
GRG001 Greig Cephalopolysyndactyly Syndrome 53 0.027
418
GLL032 Galloway-Mowat Syndrome 52 0.027
419
c EPL038 Epileptic Encephalopathy, Early Infantile, 8 24 0.027
420
LGH016 Leigh Syndrome, French-Canadian Type 27 0.027
421
c LSS009 Lissencephaly 3 23 0.027
422
c PRX046 Peroxisome Biogenesis Disorder 7a 25 0.027
423
PLY117 Polymicrogyria, Bilateral Frontoparietal 26 0.027
424
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 38 0.027
425
NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 27 0.027
426
CTY001 Cat Eye Syndrome 42 0.027
427
c SZR014 Seizures, Benign Familial Infantile, 1 21 0.027
428
c PRX048 Peroxisome Biogenesis Disorder 10a 24 0.027
429
c 3MT014 3-Methylglutaconic Aciduria, Type V 21 0.027
430
c PRX065 Peroxisome Biogenesis Disorder 3a 27 0.027
431
LRY047 Laryngeal Abductor Paralysis 23 0.027
432
TMP001 Temporal Lobe Epilepsy 47 0.027
433
CRT012 Cortical Blindness 36 0.027
434
MTC058 Mitochondrial Dna Depletion Syndrome 6 27 0.027
435
ACR012 Aicardi Syndrome 45 0.027
436
c HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 21 0.027
437
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 29 0.027
438
AGR002 Agoraphobia 41 0.027
439
PSD009 Pseudohermaphroditism 39 0.027
440
DYG001 Dyggve-Melchior-Clausen Disease 25 0.026
441
P GNG025 Gingival Fibromatosis 49 0.026
442
DYS003 Dysgraphia 34 0.026
443
ADR023 Adrenomyodystrophy 22 0.026
444
LKS001 Leukostasis 39 0.026
445
HYP624 Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase 21 0.026
446
c MNT207 Mental Retardation, X-Linked, Syndromic 32 23 0.026
447
c HYP302 Hypomagnesemia 4, Renal 23 0.026
448
RNL025 Renal Hypoplasia 40 0.026
449
ATS001 Autistic Disorder 60 0.026
450
CHR523 Chromosome 15q11.2 Deletion Syndrome 23 0.026
451
P MRD002 Marden-Walker Syndrome 39 0.026
452
P MSC094 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11 23 0.026
453
HMM003 Hemimegalencephaly 47 0.026
454
NNT011 Neonatal Anemia 34 0.026
455
CNG065 Congenital Contractures 27 0.026
456
BRN069 Brain and Spinal Tumors 12 0.026
457
2MT004 2-Methylbutyrylglycinuria 32 0.026
458
WSS003 Weissenbacher-Zweymuller Syndrome 42 0.026
459
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42 0.026
460
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 25 0.026
461
ADR021 Adrenocorticotropic Hormone Deficiency 43 0.026
462
c PRV016 Periventricular Nodular Heterotopia 6 20 0.026
463
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 25 0.026
464
CMB052 Combined Oxidative Phosphorylation Deficiency 20 17 0.026
465
HMH002 Hemihypertrophy 37 0.026
466
CCN001 Cocaine Dependence 47 0.026
467
SCK001 Sick Building Syndrome 39 0.026
468
SYN005 Synostosis 44 0.026
469
GLL028 Gillespie Syndrome 39 0.026
470
MTC008 Mitochondrial Complex Iii Deficiency 39 0.026
471
OCL034 Oculocerebrocutaneous Syndrome 29 0.026
472
c MNT166 Mental Retardation, Autosomal Recessive 39 19 0.026
473
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 17 0.026
474
c RNG004 Ring Chromosome 1 32 0.026
475
CLB026 Colobomatous Microphthalmia 28 0.026
476
OPD001 Opioid Abuse 38 0.026
477
c MCR282 Microcephaly and Chorioretinopathy 1 5 0.026
478
c MCR283 Microcephaly and Chorioretinopathy 2 5 0.026
479
c RTT008 Rett Syndrome, Congenital Variant 25 0.026
480
MDN005 Mednik Syndrome 38 0.026
481
PHS022 Phosphoserine Phosphatase Deficiency 28 0.026
482
MLY007 Molybdenum Cofactor Deficiency C 21 0.026
483
CRB070 Cerebral Folate Deficiency 37 0.026
484
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 31 0.025
485
LCT005 Lacticacidemia Due to Pdx1 Deficiency 28 0.025
486
MCR257 Microcephaly, Amish Type 27 0.025
487
HYP077 Hypertrichosis 52 0.025
488
CMB018 Combined Oxidative Phosphorylation Deficiency 7 21 0.025
489
ATX018 Ataxia, Cerebellar, Cayman Type 20 0.025
490
HYD030 Hydroxykynureninuria 19 0.025
491
c CRB099 Cerebrooculofacioskeletal Syndrome 3 18 0.025
492
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 21 0.025
493
P MNN007 Meningocele 37 0.025
494
SCR025 Scarf Syndrome 19 0.025
495
HYP173 Hyperpipecolatemia 12 0.025
496
PYR009 Pyridoxine Deficiency Anemia 20 0.025
497
MTN003 Motion Sickness 48 0.025
498
MTC092 Mitochondrial Complex Deficiency, Nuclear Type 4 28 0.025
499
CMB043 Combined Oxidative Phosphorylation Deficiency 9 19 0.025
500
c NLD005 Nail Disorder, Nonsyndromic Congenital, 10, 25 0.025
501
MTC067 Metachromatic Leukodystrophy Due to Sap-B Deficiency 18 0.025
502
GBT001 Gaba-Transaminase Deficiency 28 0.025
503
ATH004 Athetosis 25 0.025
504
LYM098 Lymphomatous Meningitis 25 0.025
505
5XP001 5-Oxoprolinase Deficiency 25 0.025
506
FCL014 Focal Epilepsy 55 0.025
507
PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 27 0.025
508
CMB017 Combined Oxidative Phosphorylation Deficiency 6 24 0.025
509
GBM001 Gaba Aminotransferase Deficiency 17 0.025
510
PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 17 0.025
511
KRT014 Keratosis Follicularis Spinulosa Decalvans 28 0.025
512
KPP002 Keppen-Lubinsky Syndrome 20 0.025
513
CRN042 Carnosinemia 20 0.025
514
LPY002 Lipoyltransferase 1 Deficiency 15 0.025
515
OPT003 Opiate Dependence 49 0.025
516
THY021 Thyroid Malformation 12 0.025
517
PYR030 Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency 21 0.025
518
LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 23 0.025
519
MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 23 0.025
520
c CRB098 Cerebrooculofacioskeletal Syndrome 2 22 0.025
521
CMB051 Combined Oxidative Phosphorylation Deficiency 21 20 0.025
522
RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 15 0.025
523
c CLD016 Cold-Induced Sweating Syndrome 2 18 0.025
524
PNT009 Pontine Tegmental Cap Dysplasia 24 0.025
525
CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 16 0.025
526
QZM001 Qazi Markouizos Syndrome 10 0.025
527
c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 19 0.025
528
3PS001 3p- Syndrome 38 0.025
529
XGB001 Xia-Gibbs Syndrome 17 0.025
530
c CRB101 Cerebrooculofacioskeletal Syndrome 1 35 0.025
531
BNB002 Bainbridge-Ropers Syndrome 22 0.025
532
PRS011 Persian Gulf Syndrome 20 0.025
533
TRP015 Triphalangeal Thumb 28 0.025
534
MRP001 Morphine Dependence 42 0.025
535
PNC049 Pancreatic Adenoma 19 0.025
536
HYP659 Hypomyelinating Leukoencephalopathy 17 0.025
537
P CRB100 Cerebrooculofacioskeletal Syndrome 4 23 0.024
538
CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 18 0.024
539
VND005 Van Den Ende-Gupta Syndrome 26 0.024
540
MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 22 0.024
541
MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 19 0.024
542
IMM061 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome-2 17 0.024
543
MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 15 0.024
544
MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 14 0.024
545
MTH027 Mthfr Deficiency 23 0.024
546
IMM133 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 8 0.024
547
DVL005 Developmental Dyspraxia 17 0.024
548
SYM004 Say Meyer Syndrome 7 0.024
549
MCR061 Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 9 0.024
550
ELL003 Elliott Ludman Teebi Syndrome 4 0.024
551
MGR005 Megarbane Syndrome 4 0.024
552
MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 25 0.024
553
MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 18 0.024
554
BSL040 Basel-Vanagait-Smirin-Yosef Syndrome 15 0.024
555
CQ7001 Coq7-Related Coenzyme Q10 Deficiency 11 0.024
556
CHR499 Chromosome 16q22 Deletion Syndrome 13 0.023
557
CRB012 Cerebral Folate Receptor Alpha Deficiency 4 0.023
558
VND006 Van Den Ende-Gupta Sndrome 6 0.023