Search results for "psychomotor disease"

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

564 hits were found for 'psychomotor disease'

# Family MCID Name MIFTS Score
1
MSS001 Masa Syndrome 49 1.615
2
INF150 Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome 5 1.457
3
P HRT032 Heart Disease 76 0.111
4
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 39 0.106
5
P THY032 Thyroiditis 54 0.097
6
P HYP265 Hypotonia 39 0.092
7
NRN002 Neuronitis 42 0.089
8
PLY030 Polydactyly Cleft Lip Palate Psychomotor Retardation 9 0.088
9
P MCR010 Microcephaly 58 0.084
10
P EPL164 Epilepsy 66 0.082
11
RSP006 Respiratory System Disease 62 0.080
12
PHY002 Physical Disorder 44 0.077
13
DMN002 Dementia 64 0.075
14
ALR002 Al-Raqad Syndrome 36 0.075
15
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 17 0.073
16
RTN023 Retinitis 49 0.072
17
P DRV001 Dravet Syndrome 68 0.072
18
SLP005 Sleep Disorder 53 0.072
19
P OBS005 Obesity 93 0.072
20
HYP650 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 26 0.069
21
ANR016 Aniridia Renal Agenesis Psychomotor Retardation 5 0.069
22
P BRS047 Breast Cancer 100 0.068
23
DFC004 Deficiency Anemia 65 0.067
24
CRB009 Cerebritis 38 0.067
25
P ATX004 Ataxia 53 0.065
26
c PND001 Pain Disorder 55 0.065
27
NTR005 Nutritional Deficiency Disease 39 0.064
28
P INT063 Intellectual Disability 53 0.064
29
P MYP004 Myopathy 67 0.063
30
P HYP086 Hypothyroidism 65 0.063
31
P ENC018 Encephalopathy 59 0.063
32
P TYS001 Tay-Sachs Disease 71 0.063
33
P NRV007 Nervous System Disease 71 0.062
34
BSL008 Basal Ganglia Disease 43 0.062
35
CRB167 Cerebellar Atrophy, Visual Impairment and Psychomotor Retardation 12 0.061
36
PCK002 Pick Disease 67 0.061
37
LRN003 Learning Disability 51 0.059
38
P MSC033 Muscle Disorders 52 0.059
39
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 32 0.058
40
c HMP029 Hemophilia a 64 0.057
41
CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 9 0.057
42
ANR002 Aniridia 60 0.057
43
HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 8 0.057
44
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 44 0.056
45
P MSC005 Muscular Dystrophy 64 0.055
46
P LGH007 Leigh Syndrome 70 0.055
47
P SCH015 Schizophrenia 76 0.054
48
CHL071 Child Syndrome 58 0.054
49
P SLP006 Sleep Apnea 61 0.054
50
KDS001 Kid Syndrome 53 0.053
51
P MYM002 Moyamoya Disease 60 0.053
52
MLN003 Melancholia 34 0.053
53
c CNG415 Congenital Disorder of Glycosylation, Type Ia 45 0.053
54
ADN022 Adenylosuccinase Deficiency 35 0.053
55
SPS057 Spasticity 42 0.053
56
OBS061 Obstructive Sleep Apnea 66 0.053
57
P MCL013 Mucolipidosis Iv 63 0.052
58
ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 15 0.052
59
TNP003 Tn Polyagglutination Syndrome, Somatic 44 0.052
60
DSS008 Disease of Mental Health 55 0.051
61
IRN001 Iron Deficiency Anemia 51 0.051
62
MCR322 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 8 0.051
63
AYM001 Ayme-Gripp Syndrome 45 0.051
64
BRS051 Breast Disease 62 0.051
65
c GM1004 Gm1-Gangliosidosis, Type I 40 0.050
66
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.050
67
c CRN174 Coronary Heart Disease 2 22 0.050
68
P PLY006 Polydactyly 55 0.050
69
P CRB042 Cerebellar Ataxia 64 0.050
70
ALP008 Alopecia 55 0.050
71
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 29 0.050
72
3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 27 0.050
73
P RTT002 Rett Syndrome 78 0.050
74
c EPL117 Epileptic Encephalopathy, Early Infantile, 16 27 0.050
75
MSC004 Muscle Tissue Disease 36 0.049
76
P SPS003 Spastic Diplegia 53 0.049
77
c 3MT015 3-Methylglutaconic Aciduria, Type I 39 0.049
78
P CTR002 Cataract 57 0.048
79
P PNC044 Pancreatitis 60 0.048
80
c JBR020 Joubert Syndrome 1 59 0.047
81
MTC056 Mitochondrial Dna Depletion Syndrome 4a 43 0.047
82
DVL001 Developmental Coordination Disorder 37 0.047
83
c CNG206 Congenital Disorder of Glycosylation, Type Ie 46 0.047
84
ACD009 Acid-Labile Subunit, Deficiency of 48 0.047
85
PLY024 Polymicrogyria 36 0.046
86
c LKD021 Leukodystrophy, Hypomyelinating, 11 19 0.046
87
P FCS002 Fucosidosis 57 0.046
88
c ORF034 Orofaciodigital Syndrome Vi 39 0.046
89
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 23 0.046
90
c CNG006 Congenital Hypothyroidism 59 0.046
91
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 25 0.046
92
c MCR228 Microphthalmia, Syndromic 13 21 0.046
93
P PLZ001 Pelizaeus-Merzbacher Disease 64 0.046
94
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 60 0.046
95
P ALX003 Alexander Disease 64 0.045
96
P STR020 Strabismus 53 0.045
97
c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 23 0.045
98
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 31 0.045
99
INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 29 0.045
100
c LKD020 Leukodystrophy, Hypomyelinating, 10 23 0.045
101
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 25 0.045
102
ANX002 Anxiety Disorder 69 0.045
103
c CRN214 Coronary Heart Disease 5 23 0.045
104
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 27 0.045
105
MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 21 0.045
106
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 26 0.045
107
VCS001 Vici Syndrome 44 0.044
108
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27 0.044
109
P RTN016 Retinal Degeneration 54 0.044
110
AMN007 Aminoacylase 1 Deficiency 28 0.044
111
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 58 0.043
112
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25 0.043
113
c LKD016 Leukodystrophy, Hypomyelinating, 9 21 0.043
114
GNT031 Genitopatellar Syndrome 39 0.043
115
PHS021 Phosphoglycerate Dehydrogenase Deficiency 28 0.043
116
c CNG192 Congenital Disorder of Glycosylation, Type Ik 24 0.043
117
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 29 0.043
118
CRB045 Cerebellar Hypoplasia 48 0.043
119
c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 24 0.043
120
P CTS001 Cutis Laxa 59 0.042
121
CLF001 Cleft Lip 49 0.042
122
DCH001 Duchenne Muscular Dystrophy 80 0.042
123
CRD002 Cri-Du-Chat Syndrome 48 0.042
124
ASP024 Asparagine Synthetase Deficiency 27 0.042
125
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 34 0.042
126
CNS004 Constipation 57 0.042
127
GNR004 Generalized Anxiety Disorder 51 0.041
128
MLT021 Multiple System Atrophy 71 0.041
129
NRR002 Norrie Disease 61 0.041
130
P LSS027 Lissencephaly, X-Linked 42 0.041
131
c SPS103 Spastic Paraplegia 50, Autosomal Recessive 24 0.041
132
c CNG185 Congenital Disorder of Glycosylation, Type Iig 25 0.041
133
ADJ001 Adjustment Disorder 38 0.041
134
URB001 Urbach-Wiethe Disease 48 0.041
135
ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 17 0.041
136
OSS014 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5 0.041
137
SVR092 Severe Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome 4 0.041
138
WST001 West Syndrome 61 0.041
139
c PNT035 Pontocerebellar Hypoplasia, Type 1c 20 0.041
140
c CNG196 Congenital Disorder of Glycosylation, Type Ic 29 0.041
141
c CNG187 Congenital Disorder of Glycosylation, Type Iid 26 0.041
142
c CNG412 Congenital Disorder of Glycosylation, Type Ii 45 0.040
143
c CNG208 Congenital Disorder of Glycosylation, Type Iic 30 0.040
144
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 21 0.040
145
CMP006 Complex Partial Epilepsy 32 0.040
146
SPN369 Spinal Disease 41 0.040
147
c CNG188 Congenital Disorder of Glycosylation, Type if 26 0.040
148
GTL001 Gitelman Syndrome 60 0.040
149
P MCP010 Mucopolysaccharidosis 58 0.040
150
c EPL102 Epileptic Encephalopathy, Early Infantile, 18 25 0.039
151
3MT017 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia 22 0.039
152
P SCL018 Scoliosis 56 0.039
153
OBS015 Obesity, Hyperphagia, and Developmental Delay 46 0.039
154
c JBR026 Joubert Syndrome 15 25 0.039
155
c JBR031 Joubert Syndrome 21 24 0.039
156
MDD011 Mood Disorder 61 0.039
157
SCR035 Sacral Agenesis with Vertebral Anomalies 33 0.039
158
c JBR015 Joubert Syndrome 6 27 0.039
159
c CNG383 Congenital Disorder of Glycosylation, Type Iik 25 0.039
160
c EPL119 Epileptic Encephalopathy, Early Infantile, 17 23 0.039
161
c SZR008 Seizures, Benign Neonatal, 1 33 0.039
162
P NRX001 Neuroaxonal Dystrophy 39 0.039
163
MLY006 Molybdenum Cofactor Deficiency a 30 0.039
164
ADN018 Adenoma 59 0.038
165
GNG013 Gingivitis 60 0.038
166
HMC006 Homocystinuria Due to Mthfr Deficiency 33 0.038
167
VTM002 Vitamin B12 Deficiency 44 0.038
168
P RNL100 Renal Hypodysplasia/aplasia 1 54 0.038
169
CMB026 Combined Oxidative Phosphorylation Deficiency 12 25 0.038
170
c PNT030 Pontocerebellar Hypoplasia, Type 8 23 0.038
171
c ACR084 Aicardi-Goutieres Syndrome 7 21 0.038
172
AND005 Androgen Insensitivity Syndrome, Mild 16 0.038
173
PRD011 Proud Syndrome 42 0.038
174
MVL001 Mevalonic Aciduria 54 0.038
175
P RTN008 Retinitis Pigmentosa 79 0.038
176
P DNT015 Dent Disease 61 0.038
177
P DYS154 Dystonia 64 0.037
178
c PNT032 Pontocerebellar Hypoplasia, Type 9 22 0.037
179
c MYS065 Myasthenic Syndrome, Congenital, 18 20 0.037
180
PSY004 Psychotic Disorder 67 0.037
181
P CNG487 Congenital Disorder of Glycosylation 1aa 13 0.037
182
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 60 0.037
183
c ACR088 Aicardi-Goutieres Syndrome 3 33 0.037
184
MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 25 0.037
185
c MNN025 Mannosidosis, Alpha-, Types I and Ii 54 0.037
186
c CNG379 Congenital Disorder of Glycosylation, Type It 28 0.037
187
HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 24 0.037
188
MYC002 Mycobacterium Avium Complex Disease 51 0.037
189
c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 24 0.037
190
WLM001 Wolman Disease 56 0.037
191
c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 46 0.037
192
c CNG200 Congenital Disorder of Glycosylation, Type Iq 26 0.037
193
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.037
194
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 33 0.037
195
CMB054 Combined Oxidative Phosphorylation Deficiency 23 21 0.037
196
DWN001 Down Syndrome 65 0.036
197
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 27 0.036
198
HYP266 Hypoxia 55 0.036
199
SDR009 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 21 0.036
200
MCR013 Microphthalmia 59 0.036
201
EST005 Esotropia 41 0.036
202
VSC047 Vascular Malformation 45 0.036
203
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 42 0.036
204
c MNT207 Mental Retardation, X-Linked, Syndromic 32 24 0.036
205
MPL011 Maple Syrup Urine Disease, Mild Variant 14 0.036
206
c LSS025 Lissencephaly 5 22 0.036
207
CYT008 Cytomegalovirus Infection 51 0.036
208
P HMP007 Hemophilia 56 0.036
209
P MRN003 Marinesco-Sjogren Syndrome 35 0.036
210
GRW028 Growth Retardation, Developmental Delay, Facial Dysmorphism 24 0.036
211
FMR004 Fumarase Deficiency 38 0.036
212
HYP036 Hyperlysinemia 37 0.036
213
INF129 Infantile Cerebellar-Retinal Degeneration 32 0.036
214
HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 26 0.036
215
BRN028 Brain Cancer 70 0.035
216
P RTN024 Retinoblastoma 75 0.035
217
WSM002 Waisman Syndrome 33 0.035
218
ATX018 Ataxia, Cerebellar, Cayman Type 23 0.035
219
P NRV006 Nervous System Cancer 62 0.035
220
P LRY019 Laryngitis 55 0.035
221
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 28 0.035
222
c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 17 0.035
223
c SYN080 Syndromic X-Linked Intellectual Disability 34 12 0.035
224
MTC060 Mitochondrial Dna Depletion Syndrome 9 26 0.035
225
3HY006 3-Hydroxyisobutryl-Coa Hydrolase Deficiency 22 0.035
226
c SZR013 Seizures, Benign Neonatal, Type 2 22 0.035
227
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 18 0.035
228
HYP646 Hypomagnesemia, Seizures, and Mental Retardation 13 0.035
229
c MNT271 Mental Retardation, Autosomal Dominant 41 12 0.035
230
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 24 0.035
231
CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 21 0.035
232
c MNT270 Mental Retardation, Autosomal Recessive 53 13 0.035
233
MTC099 Mitochondrial Complex Iii Deficiency, Nuclear Type 5 27 0.035
234
MTC079 Mitochondrial Pyruvate Carrier Deficiency 19 0.035
235
c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 18 0.035
236
c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 17 0.035
237
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 53 0.035
238
CHD004 Chudley-Mccullough Syndrome 34 0.035
239
MHR002 Mohr Syndrome 28 0.035
240
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 22 0.035
241
PHS023 Phosphoserine Aminotransferase Deficiency 20 0.035
242
TMM015 Tmem199-Cdg 13 0.035
243
c TRC078 Trichohepatoenteric Syndrome 2 31 0.035
244
P RCK004 Rickets 59 0.034
245
c MRD001 Marden Walker Like Syndrome 14 0.034
246
EXF001 Exfoliation Syndrome 57 0.034
247
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 28 0.034
248
ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22 0.034
249
CCD001 Ccdc115-Cdg 13 0.034
250
P PLN008 Peeling Skin Syndrome 47 0.034
251
c MNT221 Mental Retardation, Autosomal Recessive 44 16 0.034
252
c MNT236 Mental Retardation, Autosomal Dominant 39 13 0.034
253
CLF004 Cleft Lip/palate 46 0.034
254
MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 17 0.034
255
THY030 Thyroid Gland Disease 51 0.034
256
VRH001 Verheij Syndrome 20 0.034
257
ALP025 Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 7 0.033
258
P HYP014 Hyperuricemia 50 0.033
259
P SKN013 Skin Benign Neoplasm 46 0.033
260
P TRC086 Trichohepatoenteric Syndrome 1 46 0.033
261
KRT002 Keratomalacia 54 0.033
262
P EXP004 Exophthalmos 54 0.033
263
VTM003 Vitamin Metabolic Disorder 33 0.033
264
SCH032 Schrander-Stumpel Theunissen Hulsmans Syndrome 3 0.033
265
DRG001 Drug Psychosis 40 0.033
266
c CNG435 Congenital Disorder of Glycosylation, Type Iz 19 0.033
267
P EHL001 Ehlers-Danlos Syndrome 61 0.033
268
c CNG199 Congenital Disorder of Glycosylation, Type Im 28 0.033
269
c CNG189 Congenital Disorder of Glycosylation, Type Ib 33 0.033
270
c CNG204 Congenital Disorder of Glycosylation, Type Iih 30 0.033
271
c CNG403 Congenital Disorder of Glycosylation, Type Ix 25 0.033
272
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25 0.033
273
c CNG203 Congenital Disorder of Glycosylation, Type Iii 22 0.033
274
c CNG209 Congenital Disorder of Glycosylation, Type Iif 22 0.033
275
IRN002 Iron Metabolism Disease 43 0.032
276
P SZR006 Seizure Disorder 57 0.032
277
c MNT246 Mental Retardation, Autosomal Dominant 38 19 0.032
278
PRP016 Paraplegia 49 0.032
279
c CNG416 Congenital Disorder of Glycosylation, Type Iy 21 0.032
280
CHR103 Charge Syndrome 64 0.032
281
KRT009 Keratosis 50 0.032
282
c PLN018 Peeling Skin Syndrome 2 35 0.032
283
c JBR014 Joubert Syndrome 9 26 0.032
284
TRF001 Trifunctional Protein Deficiency 54 0.032
285
c CNG194 Congenital Disorder of Glycosylation, Type Ig 26 0.031
286
c CNG193 Congenital Disorder of Glycosylation, Type Ip 23 0.031
287
P OCL002 Oculocutaneous Albinism 51 0.031
288
c PLN017 Peeling Skin Syndrome 1 33 0.031
289
c EPL023 Epileptic Encephalopathy, Early Infantile, 11 23 0.031
290
c MNT227 Mental Retardation, Autosomal Recessive 46 19 0.031
291
BNF002 Bone Fracture 47 0.031
292
P ORF001 Orofaciodigital Syndrome 44 0.031
293
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 35 0.031
294
c EPL082 Epileptic Encephalopathy, Early Infantile, 13 19 0.031
295
c CNG031 Congenital Nervous System Abnormality 39 0.031
296
CHR066 Chronic Fatigue Syndrome 64 0.031
297
c CNG195 Congenital Disorder of Glycosylation, Type Id 30 0.031
298
c EPL024 Epileptic Encephalopathy, Early Infantile, 12 21 0.031
299
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 51 0.031
300
c CNG205 Congenital Disorder of Glycosylation, Type Ij 27 0.031
301
c PNT039 Pontocerebellar Hypoplasia, Type 7 19 0.031
302
CRD119 Cardiac Arrest 63 0.031
303
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 34 0.031
304
c CNG414 Congenital Disorder of Glycosylation, Type Iil 24 0.031
305
c CNG388 Congenital Disorder of Glycosylation, Type Iw 23 0.031
306
c CNG207 Congenital Disorder of Glycosylation, Type Io 23 0.031
307
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 36 0.031
308
c PLN021 Peeling Skin Syndrome 3 31 0.031
309
c JBR035 Joubert Syndrome 27 14 0.031
310
HNT002 Hantavirus Pulmonary Syndrome 51 0.031
311
ASP002 Aspartylglucosaminuria 59 0.031
312
c CNG191 Congenital Disorder of Glycosylation, Type Iia 31 0.031
313
c MCR321 Microcephaly 17, Primary, Autosomal Recessive 17 0.031
314
c CNG198 Congenital Disorder of Glycosylation, Type Il 24 0.030
315
P CHR084 Chromosomal Disease 37 0.030
316
P ALC004 Alcohol Abuse 60 0.030
317
MLT135 Multiple Sulfatase Deficiency 53 0.030
318
P JBR017 Joubert Syndrome-3 25 0.030
319
c CNG201 Congenital Disorder of Glycosylation, Type Iij 24 0.030
320
c CNG378 Congenital Disorder of Glycosylation, Type Ir 19 0.030
321
P BPL003 Bipolar Disorder 62 0.030
322
SBS003 Substance Abuse 56 0.030
323
HYP080 Hypogonadism 54 0.030
324
SLP001 Sleeping Sickness 48 0.030
325
c CNG197 Congenital Disorder of Glycosylation, Type Ih 32 0.030
326
c JBR018 Joubert Syndrome 4 25 0.030
327
c CNG386 Congenital Disorder of Glycosylation, Type Iu 21 0.030
328
c GM1005 Gm1-Gangliosidosis, Type Ii 33 0.030
329
c JBR016 Joubert Syndrome 10 25 0.030
330
c JBR030 Joubert Syndrome 22 21 0.030
331
c JBR028 Joubert Syndrome 13 20 0.030
332
c MNT241 Mental Retardation, Autosomal Dominant 32 20 0.030
333
c PRX045 Peroxisome Biogenesis Disorder 1b 51 0.030
334
c SCH069 Schindler Disease, Type I 32 0.030
335
c JBR011 Joubert Syndrome 7 23 0.030
336
SSM001 Sesame Syndrome 53 0.030
337
P DMN001 Diamond-Blackfan Anemia 68 0.030
338
ALB002 Albinism 43 0.030
339
YNG002 Young Syndrome 26 0.030
340
c MNT265 Mental Retardation, X-Linked, Syndromic, 33 11 0.030
341
ALL001 Allan-Herndon-Dudley Syndrome 47 0.029
342
c JBR004 Joubert Syndrome 2 33 0.029
343
c PRX059 Peroxisome Biogenesis Disorder 1a 52 0.029
344
c JBR012 Joubert Syndrome 5 28 0.029
345
c ACR090 Aicardi-Goutieres Syndrome 2 33 0.029
346
c JBR013 Joubert Syndrome 8 23 0.029
347
c EPL130 Epileptic Encephalopathy, Early Infantile, 26 20 0.029
348
c CNG411 Congenital Disorder of Glycosylation, Type in 48 0.029
349
P PTT014 Pitt-Hopkins Syndrome 51 0.029
350
MTC020 Mitochondrial Complex Ii Deficiency 50 0.029
351
KWS001 Kwashiorkor 44 0.029
352
c JBR022 Joubert Syndrome 20 25 0.029
353
c LSS012 Lissencephaly, X-Linked 2 24 0.029
354
c JBR021 Joubert Syndrome 18 22 0.029
355
c JBR025 Joubert Syndrome 17 21 0.029
356
P LCT001 Lactic Acidosis 52 0.029
357
ISV001 Isovaleric Acidemia 51 0.029
358
c HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 50 0.029
359
ECT006 Ectodermal Dysplasia 47 0.029
360
HYD012 Hydrops Fetalis 44 0.029
361
CRD001 Cardiac Tamponade 44 0.029
362
P HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 29 0.029
363
c HYP701 Hypomyelinating Leukodystrophy 13 12 0.029
364
c HYP702 Hypomyelinating Leukodystrophy 12 12 0.029
365
P CLD010 Cold-Induced Sweating Syndrome 1 46 0.029
366
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 53 0.029
367
CHR003 Cherubism 50 0.029
368
c NPH067 Nephronophthisis 12 22 0.029
369
P SCH018 Schizencephaly 51 0.029
370
c PRX055 Peroxisome Biogenesis Disorder 11a 32 0.029
371
c ACR092 Aicardi-Goutieres Syndrome 5 29 0.029
372
c PRX061 Peroxisome Biogenesis Disorder 8a, 25 0.029
373
c ACR081 Aicardi-Goutieres Syndrome 6 30 0.029
374
c EPL154 Epilepsy, Progressive Myoclonic, 9 22 0.029
375
SPN040 Spinal Cancer 43 0.029
376
CNT018 Central Nervous System Leukemia 39 0.029
377
c PRX060 Peroxisome Biogenesis Disorder 5a 28 0.029
378
c PRX063 Peroxisome Biogenesis Disorder 2a 27 0.029
379
c PRX054 Peroxisome Biogenesis Disorder 12a 25 0.029
380
P PRX051 Peroxisome Biogenesis Disorder 6a 25 0.029
381
c PRX052 Peroxisome Biogenesis Disorder 13a 24 0.029
382
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 25 0.029
383
c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 19 0.029
384
OCC006 Occipital Horn Syndrome 46 0.028
385
c SCH051 Schizophrenia 4 31 0.028
386
c PRX057 Peroxisome Biogenesis Disorder 4a 25 0.028
387
P PRD006 Prader-Willi Syndrome 63 0.028
388
ACR008 Acrocallosal Syndrome 51 0.028
389
SPN050 Spinocerebellar Degeneration 37 0.028
390
P NNT009 Neonatal Diabetes Mellitus 52 0.028
391
c NTR038 Neutropenia, Severe Congenital 3, Autosomal Recessive 41 0.028
392
MLT001 Multiple Chemical Sensitivity 43 0.028
393
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.028
394
c ACR091 Aicardi-Goutieres Syndrome 4 34 0.028
395
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 31 0.028
396
c LSS009 Lissencephaly 3 24 0.028
397
CMM005 Common Cold 58 0.028
398
AMS002 Amish Infantile Epilepsy Syndrome 35 0.028
399
c PNT033 Pontocerebellar Hypoplasia, Type 10 24 0.028
400
c NPH071 Nephronophthisis 14 23 0.028
401
c MNT198 Mental Retardation, X-Linked 98 22 0.028
402
UTR033 Uterine Corpus Cancer 50 0.028
403
ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 38 0.028
404
c MNT149 Mental Retardation, X-Linked 3 31 0.028
405
c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25 0.028
406
P HYP027 Hypobetalipoproteinemia 52 0.028
407
SBS004 Substance Dependence 50 0.028
408
FBR019 Fibromatosis 42 0.028
409
c PRM015 Primary Cerebellar Degeneration 37 0.028
410
PLY117 Polymicrogyria, Bilateral Frontoparietal 27 0.028
411
c PRX046 Peroxisome Biogenesis Disorder 7a 24 0.028
412
c LKD008 Leukodystrophy, Hypomyelinating, 4 23 0.028
413
GLL028 Gillespie Syndrome 40 0.027
414
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 39 0.027
415
HYP624 Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase 39 0.027
416
c PRX065 Peroxisome Biogenesis Disorder 3a 28 0.027
417
MTC058 Mitochondrial Dna Depletion Syndrome 6 26 0.027
418
c PRX048 Peroxisome Biogenesis Disorder 10a 24 0.027
419
c HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 21 0.027
420
GRG001 Greig Cephalopolysyndactyly Syndrome 52 0.027
421
P ICH001 Ichthyosis Vulgaris 44 0.027
422
P FTL009 Fetal Akinesia Deformation Sequence 49 0.027
423
GLY014 Glycerol Kinase Deficiency 45 0.027
424
CLF027 Cleft Palate, Isolated 56 0.027
425
RCH001 Richter's Syndrome 44 0.027
426
MTS001 Mutism 40 0.027
427
NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 27 0.027
428
c 3MT014 3-Methylglutaconic Aciduria, Type V 27 0.027
429
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 25 0.027
430
c HYP302 Hypomagnesemia 4, Renal 25 0.027
431
P MSC094 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11 23 0.027
432
WLL004 Wallerian Degeneration 35 0.026
433
LGH016 Leigh Syndrome, French-Canadian Type 26 0.026
434
CMB052 Combined Oxidative Phosphorylation Deficiency 20 17 0.026
435
SMT006 Somatoform Disorder 53 0.026
436
TMP001 Temporal Lobe Epilepsy 51 0.026
437
ACR006 Aceruloplasminemia 43 0.026
438
DYG001 Dyggve-Melchior-Clausen Disease 24 0.026
439
c MCR282 Microcephaly and Chorioretinopathy 1 6 0.026
440
c MCR283 Microcephaly and Chorioretinopathy 2 6 0.026
441
ACR012 Aicardi Syndrome 45 0.026
442
MLY007 Molybdenum Cofactor Deficiency C 21 0.026
443
SLC033 Slc39a8-Cdg 13 0.026
444
GLL032 Galloway-Mowat Syndrome 50 0.026
445
P MRD002 Marden-Walker Syndrome 46 0.026
446
ADR021 Adrenocorticotropic Hormone Deficiency 45 0.026
447
CTY001 Cat Eye Syndrome 42 0.026
448
HRT011 Heart Septal Defect 41 0.026
449
DYS003 Dysgraphia 38 0.026
450
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 31 0.026
451
c RTT008 Rett Syndrome, Congenital Variant 24 0.026
452
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 24 0.026
453
LRY047 Laryngeal Abductor Paralysis 23 0.026
454
c SZR014 Seizures, Benign Familial Infantile, 1 21 0.026
455
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 21 0.026
456
c MNT166 Mental Retardation, Autosomal Recessive 39 19 0.026
457
BRN069 Brain and Spinal Tumors 13 0.026
458
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 41 0.026
459
RNL025 Renal Hypoplasia 41 0.026
460
2MT004 2-Methylbutyrylglycinuria 31 0.026
461
PHS022 Phosphoserine Phosphatase Deficiency 29 0.026
462
ADR023 Adrenomyodystrophy 24 0.026
463
CMB017 Combined Oxidative Phosphorylation Deficiency 6 23 0.026
464
MTC067 Metachromatic Leukodystrophy Due to Sap-B Deficiency 17 0.026
465
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 17 0.026
466
CCN001 Cocaine Dependence 48 0.026
467
WLF002 Wolf-Hirschhorn Syndrome 45 0.026
468
WSS003 Weissenbacher-Zweymuller Syndrome 40 0.026
469
PSD009 Pseudohermaphroditism 40 0.026
470
HMH002 Hemihypertrophy 39 0.026
471
NNT011 Neonatal Anemia 34 0.026
472
PHS005 Peho Syndrome 32 0.026
473
c NLD005 Nail Disorder, Nonsyndromic Congenital, 10, 27 0.026
474
LPY002 Lipoyltransferase 1 Deficiency 16 0.026
475
P ACT105 Acute Mountain Sickness 53 0.026
476
AGR002 Agoraphobia 43 0.026
477
PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 30 0.026
478
CLB026 Colobomatous Microphthalmia 28 0.026
479
ATS001 Autistic Disorder 59 0.025
480
HYP077 Hypertrichosis 52 0.025
481
SYN005 Synostosis 45 0.025
482
HMM003 Hemimegalencephaly 45 0.025
483
SCK001 Sick Building Syndrome 39 0.025
484
P MNN007 Meningocele 36 0.025
485
LYM098 Lymphomatous Meningitis 32 0.025
486
CNG065 Congenital Contractures 29 0.025
487
GBT001 Gaba-Transaminase Deficiency 27 0.025
488
MCR257 Microcephaly, Amish Type 26 0.025
489
PYR009 Pyridoxine Deficiency Anemia 21 0.025
490
CMB018 Combined Oxidative Phosphorylation Deficiency 7 20 0.025
491
CMB043 Combined Oxidative Phosphorylation Deficiency 9 20 0.025
492
HYD030 Hydroxykynureninuria 18 0.025
493
SCR025 Scarf Syndrome 18 0.025
494
BSL040 Basel-Vanagait-Smirin-Yosef Syndrome 17 0.025
495
CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 16 0.025
496
CRB070 Cerebral Folate Deficiency 38 0.025
497
MDN005 Mednik Syndrome 37 0.025
498
CRT012 Cortical Blindness 36 0.025
499
c RNG004 Ring Chromosome 1 33 0.025
500
LCT005 Lacticacidemia Due to Pdx1 Deficiency 27 0.025
501
c CRB098 Cerebrooculofacioskeletal Syndrome 2 21 0.025
502
KPP002 Keppen-Lubinsky Syndrome 21 0.025
503
CMB051 Combined Oxidative Phosphorylation Deficiency 21 20 0.025
504
c CLD016 Cold-Induced Sweating Syndrome 2 20 0.025
505
PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 16 0.025
506
THY021 Thyroid Malformation 13 0.025
507
FCL014 Focal Epilepsy 56 0.025
508
OPD001 Opioid Abuse 41 0.025
509
LKS001 Leukostasis 39 0.025
510
c CRB101 Cerebrooculofacioskeletal Syndrome 1 35 0.025
511
ATH004 Athetosis 25 0.025
512
5XP001 5-Oxoprolinase Deficiency 24 0.025
513
MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 23 0.025
514
LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 23 0.025
515
PYR030 Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency 21 0.025
516
PNC049 Pancreatic Adenoma 20 0.025
517
MTC092 Mitochondrial Complex Deficiency, Nuclear Type 4 20 0.025
518
P PRV016 Periventricular Nodular Heterotopia 6 20 0.025
519
CRN042 Carnosinemia 19 0.025
520
c CRB099 Cerebrooculofacioskeletal Syndrome 3 17 0.025
521
MTN003 Motion Sickness 48 0.025
522
OST032 Osteofibrous Dysplasia 38 0.025
523
OCL034 Oculocerebrocutaneous Syndrome 28 0.025
524
KRT014 Keratosis Follicularis Spinulosa Decalvans 26 0.025
525
PNT009 Pontine Tegmental Cap Dysplasia 23 0.025
526
CHR523 Chromosome 15q11.2 Deletion Syndrome 21 0.025
527
c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 19 0.025
528
RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 16 0.025
529
3PS001 3p- Syndrome 38 0.025
530
CHR518 Chromosome 9p Deletion Syndrome 26 0.025
531
VND005 Van Den Ende-Gupta Syndrome 26 0.025
532
P CRB100 Cerebrooculofacioskeletal Syndrome 4 22 0.025
533
BNB002 Bainbridge-Ropers Syndrome 21 0.025
534
CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 17 0.025
535
XGB001 Xia-Gibbs Syndrome 16 0.025
536
IMM133 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 10 0.025
537
OPT003 Opiate Dependence 50 0.024
538
HRD005 Hard Palate Cancer 30 0.024
539
PRS011 Persian Gulf Syndrome 27 0.024
540
MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 19 0.024
541
IMM061 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome-2 17 0.024
542
MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 16 0.024
543
MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 16 0.024
544
QZM001 Qazi Markouizos Syndrome 9 0.024
545
MRP001 Morphine Dependence 42 0.024
546
MTH027 Mthfr Deficiency 30 0.024
547
TRP015 Triphalangeal Thumb 28 0.024
548
MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 22 0.024
549
DVL005 Developmental Dyspraxia 21 0.024
550
HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 12 0.024
551
CQ7001 Coq7-Related Coenzyme Q10 Deficiency 11 0.024
552
MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 8 0.024
553
SPS202 Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome 5 0.024
554
ELL003 Elliott Ludman Teebi Syndrome 4 0.024
555
MGR005 Megarbane Syndrome 4 0.024
556
MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 17 0.024
557
MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 17 0.024
558
HYP659 Hypomyelinating Leukoencephalopathy 16 0.024
559
MCR061 Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 9 0.024
560
SYM004 Say Meyer Syndrome 6 0.024
561
HYP705 Hypermethioninemia Due to S-Adenosylhomocysteine Hydrolase Deficiency 5 0.024
562
CHR499 Chromosome 16q22 Deletion Syndrome 13 0.023
563
VND006 Van Den Ende-Gupta Sndrome 6 0.023
564
CRB012 Cerebral Folate Receptor Alpha Deficiency 4 0.023