Search results for "cerebellar ataxia with mental retardation"

The MalaCard for "cerebellar ataxia with mental retardation" has been retired.
Searching MalaCards for entries containing "cerebellar ataxia with mental retardation"

522 hits were found for 'cerebellar ataxia with mental retardation'

# Family MCID Name MIFTS Score
1
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 41 5.966
2
CRB092 Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 18 4.718
3
P CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 20 4.397
4
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 22 4.174
5
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 17 3.465
6
c SPN311 Spinocerebellar Ataxia 13 46 3.246
7
c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 25 2.247
8
GLL032 Galloway-Mowat Syndrome 51 2.068
9
P ATX004 Ataxia 53 0.800
10
P CRB042 Cerebellar Ataxia 63 0.492
11
NRN002 Neuronitis 41 0.314
12
P EPL164 Epilepsy 66 0.290
13
P CRB059 Cerebellar Degeneration 34 0.287
14
CRB009 Cerebritis 39 0.253
15
SPS057 Spasticity 42 0.252
16
P INT063 Intellectual Disability 49 0.240
17
P NRP001 Neuropathy 59 0.220
18
CRB045 Cerebellar Hypoplasia 48 0.219
19
P SCH015 Schizophrenia 77 0.219
20
P LYM118 Lymphoma 69 0.218
21
P HPT021 Hepatitis 69 0.217
22
P TRM003 Tremor 54 0.216
23
RTN023 Retinitis 50 0.216
24
P LKM002 Leukemia 71 0.214
25
P BRS047 Breast Cancer 100 0.213
26
P MDL005 Medulloblastoma 77 0.202
27
P FRD001 Friedreich Ataxia 62 0.199
28
P MCR010 Microcephaly 58 0.191
29
c ATS308 Autosomal Dominant Cerebellar Ataxia 48 0.190
30
CRB027 Cerebellar Disease 47 0.190
31
DSS008 Disease of Mental Health 52 0.187
32
P ENC018 Encephalopathy 59 0.185
33
P ADN016 Adenocarcinoma 69 0.181
34
DMN002 Dementia 65 0.181
35
ATX038 Ataxia and Polyneuropathy, Adult-Onset 21 0.177
36
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.177
37
P LNG032 Lung Cancer 95 0.174
38
P AST007 Astrocytoma 65 0.171
39
P ART022 Arthritis 75 0.168
40
P THY032 Thyroiditis 54 0.163
41
c HRD026 Hereditary Ataxia 44 0.161
42
P CTR002 Cataract 58 0.161
43
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 41 0.160
44
P HRT032 Heart Disease 75 0.160
45
P HYP265 Hypotonia 38 0.160
46
HYP080 Hypogonadism 53 0.158
47
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.157
48
P MYP004 Myopathy 67 0.155
49
ALR002 Al-Raqad Syndrome 36 0.155
50
P DYS154 Dystonia 65 0.150
51
END072 Endotheliitis 42 0.150
52
P MSC005 Muscular Dystrophy 65 0.149
53
P CRV039 Cervicitis 45 0.147
54
P EPS003 Episodic Ataxia 57 0.146
55
LRN003 Learning Disability 49 0.145
56
c ATS307 Autosomal Recessive Cerebellar Ataxia 30 0.143
57
PRP016 Paraplegia 49 0.142
58
PRS047 Prostatitis 56 0.141
59
P ATX024 Ataxia-Oculomotor Apraxia 3 31 0.139
60
MYC033 Myoclonus 42 0.137
61
TTR016 Tetra-Amelia Syndrome 36 0.137
62
MLT021 Multiple System Atrophy 70 0.137
63
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 26 0.136
64
ANR040 Aneurysm 57 0.136
65
P PNC044 Pancreatitis 61 0.133
66
P BPL003 Bipolar Disorder 62 0.130
67
NTR005 Nutritional Deficiency Disease 36 0.130
68
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.130
69
P HYD006 Hydrocephalus 66 0.129
70
MVM001 Movement Disease 49 0.128
71
APR001 Apraxia 51 0.127
72
P NRV006 Nervous System Cancer 60 0.127
73
THR024 Thrombosis 57 0.127
74
CRB037 Cerebral Palsy 66 0.125
75
MLN008 Melanoma 62 0.125
76
P OVR042 Ovarian Cancer 76 0.124
77
P MNN013 Meningitis 67 0.123
78
P HYP086 Hypothyroidism 64 0.123
79
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 27 0.123
80
P SPS003 Spastic Diplegia 52 0.121
81
AND005 Androgen Insensitivity Syndrome, Mild 16 0.121
82
P GLM045 Glioma 60 0.120
83
KDS001 Kid Syndrome 53 0.118
84
P NRV007 Nervous System Disease 71 0.117
85
P ESP024 Esophagitis 61 0.117
86
P BCL006 B-Cell Lymphomas 65 0.116
87
INS024 Insulin-Like Growth Factor I 75 0.116
88
SLP005 Sleep Disorder 53 0.116
89
P FRG001 Fragile X Syndrome 69 0.116
90
P ANR002 Aniridia 64 0.116
91
P ENC004 Encephalitis 63 0.116
92
CHL071 Child Syndrome 58 0.115
93
PHY002 Physical Disorder 43 0.114
94
LYM019 Lymphosarcoma 53 0.114
95
P RTN008 Retinitis Pigmentosa 80 0.112
96
DRG001 Drug Psychosis 38 0.112
97
FRG008 Fragile X-Associated Tremor/ataxia Syndrome 36 0.111
98
PCK002 Pick Disease 68 0.110
99
MLR004 Malaria 83 0.109
100
GLL028 Gillespie Syndrome 38 0.109
101
P HYP071 Hypersensitivity Reaction Type Ii Disease 49 0.108
102
CRB028 Cerebellar Medulloblastoma 31 0.108
103
P PNM007 Pneumonia 68 0.108
104
c EPS035 Episodic Ataxia, Type 2 51 0.108
105
P ATS049 Autism Susceptibility, X-Linked 2 33 0.107
106
SNS001 Sensorineural Hearing Loss 57 0.106
107
CRB033 Cerebral Degeneration 44 0.105
108
P PLY019 Polyneuropathy 56 0.105
109
c ACT073 Acute Leukemia 60 0.105
110
BRN028 Brain Cancer 70 0.104
111
ALP008 Alopecia 57 0.104
112
AYM001 Ayme-Gripp Syndrome 41 0.103
113
HPT074 Hepatic Adenoma, Somatic 50 0.102
114
STR067 Stroke, Ischemic 75 0.101
115
P THR014 Thrombocytopenia 64 0.101
116
P PTS002 Ptosis 51 0.101
117
DWN001 Down Syndrome 66 0.101
118
HNM002 Hinman Syndrome 25 0.100
119
c CNT035 Central Nervous System Disease 60 0.100
120
EXF001 Exfoliation Syndrome 57 0.099
121
P RTN016 Retinal Degeneration 54 0.099
122
P SPS008 Spastic Ataxia 33 0.099
123
BLD054 Blood Protein Disease 37 0.099
124
BRN071 Brain Injury 52 0.099
125
P DRR001 Diarrhea 60 0.099
126
CHR008 Choroiditis 44 0.098
127
MRG013 Mirage Syndrome 29 0.098
128
P PLN008 Peeling Skin Syndrome 45 0.098
129
ATH003 Atherosclerosis 65 0.097
130
ACQ007 Acquired Immunodeficiency Syndrome 60 0.097
131
HDG012 Hodgkin Lymphoma 77 0.097
132
SPC010 Speech and Communication Disorders 41 0.097
133
NRM005 Neuromuscular Disease 56 0.096
134
MSC004 Muscle Tissue Disease 34 0.095
135
TBR010 Tuberculosis 70 0.095
136
DFF005 Diffuse Large B-Cell Lymphoma 59 0.095
137
ATN002 Autonomic Nervous System Disease 48 0.094
138
BNS002 Bone Structure Disease 37 0.094
139
P SHR029 Short Syndrome 58 0.094
140
SPC005 Speech Disorder 41 0.094
141
c ESS001 Essential Tremor 59 0.093
142
P INF032 Infertility 59 0.093
143
RSP006 Respiratory System Disease 58 0.093
144
P MSC033 Muscle Disorders 52 0.093
145
ACR041 Acromelic Frontonasal Dysostosis 45 0.093
146
c BRN108 Branchiootic Syndrome 1 34 0.092
147
DFC004 Deficiency Anemia 64 0.092
148
ALL026 Allergic Hypersensitivity Disease 52 0.091
149
c HRD010 Hereditary Spastic Paraplegia 67 0.091
150
MTH009 Mouth Disease 61 0.090
151
P HMP006 Hemiplegic Migraine 45 0.090
152
P INT068 Intestinal Disease 60 0.090
153
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 43 0.090
154
P HMR003 Hemorrhagic Disease 57 0.090
155
P NRF002 Neurofibromatosis 71 0.089
156
P MTC069 Mitochondrial Disorders 53 0.089
157
GLB003 Globe Disease 32 0.089
158
P SCL018 Scoliosis 55 0.089
159
IMM136 Immune System Disease 51 0.088
160
P PLY006 Polydactyly 56 0.088
161
ATS001 Autistic Disorder 63 0.088
162
P AMY004 Amyloidosis 65 0.087
163
SPS019 Spastic Paraparesis 41 0.087
164
WLL006 Wells Syndrome 59 0.087
165
P TBR001 Tuberous Sclerosis 67 0.087
166
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 31 0.086
167
P RTT002 Rett Syndrome 77 0.086
168
HYP056 Hypoglycemia 61 0.086
169
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 39 0.086
170
HYP064 Hypogonadotropism 37 0.086
171
GDS001 Good Syndrome 44 0.085
172
BSL008 Basal Ganglia Disease 40 0.084
173
P ANG001 Angelman Syndrome 61 0.084
174
P INF038 Influenza 72 0.084
175
GLB015 Glioblastoma Multiforme 63 0.084
176
NRN004 Neuroendocrine Tumor 56 0.083
177
PRP030 Purpura 58 0.083
178
DVL001 Developmental Coordination Disorder 36 0.083
179
P CLL015 Collagen Disease 50 0.082
180
P LKD001 Leukodystrophy 59 0.082
181
P BRC006 Brachydactyly 54 0.082
182
P LRY019 Laryngitis 54 0.081
183
P HNT016 Huntington Disease 80 0.081
184
CRC006 Carcinoid Syndrome 52 0.081
185
P MSC003 Muscular Atrophy 50 0.081
186
OTT002 Otitis Media 66 0.080
187
P LTR001 Lateral Sclerosis 53 0.080
188
P DBT005 Diabetes Insipidus 53 0.080
189
P ALX003 Alexander Disease 63 0.080
190
PRT036 Peritonitis 63 0.080
191
EPD016 Epidermolysis Bullosa 57 0.080
192
VND001 Vein Disease 47 0.079
193
P SYN001 Syndactyly 53 0.079
194
c FML023 Familial Hemiplegic Migraine 51 0.079
195
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 57 0.079
196
c PLN018 Peeling Skin Syndrome 2 40 0.079
197
c SPN096 Spinocerebellar Ataxia 21 33 0.079
198
P PNC001 Pancytopenia 52 0.079
199
OPT006 Optic Nerve Disease 52 0.078
200
P PRD006 Prader-Willi Syndrome 62 0.078
201
ECT006 Ectodermal Dysplasia 52 0.078
202
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 26 0.077
203
P TRT010 Teratoma 52 0.077
204
DYS073 Dysphagia 48 0.077
205
NSD001 Nose Disease 48 0.077
206
TTH006 Tooth Disease 52 0.077
207
STM006 Stomach Disease 50 0.076
208
ATN005 Autonomic Dysfunction 49 0.076
209
CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 18 0.076
210
P CRB088 Cerebral Atrophy 43 0.075
211
P MYC026 Myoclonus Epilepsy 34 0.075
212
P STR020 Strabismus 51 0.075
213
MCS002 Mucositis 55 0.075
214
CCH002 Coach Syndrome 54 0.075
215
P HYP069 Hyperparathyroidism 58 0.074
216
P ACT074 Acute Lymphocytic Leukemia 56 0.074
217
P CNJ013 Conjunctivitis 64 0.074
218
AMN006 Aminoaciduria 41 0.074
219
FST001 Foster-Kennedy Syndrome 31 0.074
220
c SPN100 Spinocerebellar Ataxia 27 43 0.074
221
c SPN312 Spinocerebellar Ataxia 14 46 0.073
222
c PLN021 Peeling Skin Syndrome 3 29 0.073
223
ADP007 Adie Pupil 34 0.073
224
TRM010 Traumatic Brain Injury 52 0.073
225
SSM001 Sesame Syndrome 52 0.073
226
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.072
227
MTR014 Motor Neuron Disease 58 0.072
228
P AXN001 Axonal Neuropathy 38 0.072
229
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 29 0.072
230
HMP005 Hemiplegia 51 0.072
231
CRB030 Cerebellum Cancer 35 0.072
232
STF001 Stiff-Person Syndrome 56 0.072
233
CRB022 Cerebellar Liponeurocytoma 33 0.071
234
BND014 Bone Development Disease 40 0.071
235
c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 29 0.071
236
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 43 0.070
237
NSY001 N Syndrome 36 0.070
238
P HYP024 Hypoparathyroidism 53 0.070
239
DND001 Dandy-Walker Syndrome 44 0.070
240
P SYN064 Syndromic X-Linked Intellectual Disability 28 0.069
241
P LCT001 Lactic Acidosis 51 0.069
242
c PLN017 Peeling Skin Syndrome 1 34 0.069
243
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 39 0.069
244
WDH003 Woodhouse-Sakati Syndrome 41 0.069
245
CHL061 Childhood Leukemia 49 0.069
246
PRN039 Paraneoplastic Syndromes 32 0.069
247
c CNG006 Congenital Hypothyroidism 60 0.068
248
RLP002 Relapsing-Remitting Multiple Sclerosis 55 0.068
249
P OST005 Osteogenesis Imperfecta 69 0.068
250
KRN002 Kearns-Sayre Syndrome 61 0.068
251
P CNT005 Central Nervous System Lymphoma 53 0.068
252
PLY024 Polymicrogyria 35 0.068
253
KLN001 Klinefelter's Syndrome 50 0.068
254
APH002 Aphasia 54 0.067
255
INT066 Interstitial Lung Disease 59 0.067
256
MNT014 Mental Retardation Epilepsy 22 0.067
257
P NJM001 Nijmegen Breakage Syndrome 67 0.067
258
SWL001 Swallowing Disorders 33 0.067
259
MTC054 Mitochondrial Dna Depletion Syndrome 7 38 0.066
260
P CRB149 Cerebroretinal Microangiopathy with Calcifications and Cysts 48 0.066
261
FCL014 Focal Epilepsy 55 0.066
262
P MRN003 Marinesco-Sjogren Syndrome 33 0.066
263
MTC024 Mitochondrial Genetic Disorders 14 0.066
264
SPS007 Spastic Cerebral Palsy 44 0.066
265
ATX003 Ataxia with Isolated Vitamin E Deficiency 40 0.066
266
P HYP040 Hypospadias 57 0.066
267
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 52 0.066
268
PPL022 Papilloma 55 0.065
269
P OLG002 Oligodendroglioma 56 0.065
270
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.065
271
EPS004 Episodic Ataxia/myokymia Syndrome 45 0.065
272
ADR007 Adrenoleukodystrophy 72 0.065
273
GNG004 Ganglioglioma 50 0.065
274
P MYP006 Myopia 56 0.065
275
c 3MT014 3-Methylglutaconic Aciduria, Type V 36 0.065
276
CHN016 Cohen Syndrome 54 0.064
277
P SPN202 Spinocerebellar Ataxia, X-Linked 1 29 0.064
278
HRP004 Herpes Zoster 56 0.064
279
KRT004 Keratitis 71 0.064
280
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27 0.064
281
P DYS007 Dyskeratosis Congenita 63 0.064
282
P LSS024 Lissencephaly with Cerebellar Hypoplasia 34 0.063
283
CHR078 Chorioretinitis 40 0.063
284
P APL001 Aplastic Anemia 75 0.063
285
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 25 0.063
286
BHR001 Behr Syndrome 42 0.063
287
ATS010 Autosomal Recessive Disease 41 0.063
288
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25 0.062
289
GST019 Gastrointestinal Stromal Tumor 73 0.062
290
P EPN002 Ependymoma 53 0.062
291
ADL053 Adult Astrocytic Tumour 35 0.062
292
P ATX010 Ataxia Neuropathy Spectrum 30 0.062
293
ADR009 Adrenal Cortex Disease 39 0.062
294
P LGH007 Leigh Syndrome 70 0.062
295
FRG010 Fragile X Tremor/ataxia Syndrome 36 0.061
296
ACT049 Acute Disseminated Encephalomyelitis 49 0.061
297
ALB002 Albinism 46 0.061
298
LPM004 Lipoma 60 0.061
299
PRN023 Prion Disease 48 0.060
300
P RTN024 Retinoblastoma 74 0.060
301
CRT012 Cortical Blindness 35 0.060
302
P ENC011 Encephalomyopathy 37 0.060
303
P ENC008 Encephalocele 48 0.059
304
VTM002 Vitamin B12 Deficiency 45 0.059
305
WLL001 Williams-Beuren Syndrome 60 0.059
306
LSH001 Leishmaniasis 66 0.059
307
MVL001 Mevalonic Aciduria 56 0.058
308
P SLL003 Salla Disease 43 0.058
309
P IDP010 Idiopathic Generalized Epilepsy 61 0.058
310
OST017 Osteomyelitis 61 0.057
311
P TYS001 Tay-Sachs Disease 71 0.057
312
CYS013 Cystinuria 63 0.057
313
P CHR071 Charcot-Marie-Tooth Disease 67 0.057
314
CYT008 Cytomegalovirus Infection 52 0.057
315
MTC057 Mitochondrial Recessive Ataxia Syndrome 48 0.056
316
BRC012 Brucellosis 66 0.056
317
P MTC003 Metachromatic Leukodystrophy 70 0.056
318
P DRV001 Dravet Syndrome 69 0.056
319
LYM017 Lyme Disease 63 0.056
320
TMP001 Temporal Lobe Epilepsy 50 0.056
321
RHM015 Rhombencephalosynapsis 24 0.056
322
P PSD015 Pseudohypoparathyroidism 46 0.055
323
P MTC004 Mitochondrial Encephalomyopathy 42 0.055
324
PSD009 Pseudohermaphroditism 40 0.055
325
OCL011 Ocular Motility Disease 37 0.055
326
VSC002 Vascular Dementia 54 0.055
327
PLM020 Pleomorphic Xanthoastrocytoma 42 0.054
328
MNR003 Mineral Metabolism Disease 38 0.054
329
IRN001 Iron Deficiency Anemia 52 0.054
330
CHD001 Chediak-Higashi Syndrome 64 0.054
331
CRN031 Cranial Nerve Disease 40 0.054
332
P RFS001 Refsum Disease 63 0.054
333
GNG002 Ganglioneuroma 47 0.054
334
TTN003 Tetanus 61 0.053
335
RST001 Restless Legs Syndrome 54 0.053
336
CRP010 Corpus Callosum Agenesis 38 0.053
337
c DYS119 Dystonia 9 36 0.053
338
MNN032 Meningococcal Meningitis 42 0.053
339
P XLN007 X-Linked Disease 34 0.053
340
GST078 Gastrointestinal Allergy 40 0.053
341
MRK001 Merkel Cell Carcinoma 52 0.053
342
THR013 Thoracic Outlet Syndrome 50 0.053
343
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 51 0.053
344
GRD007 Grade Iii Astrocytoma 50 0.053
345
CRB150 Cerebral Creatine Deficiency Syndrome 2 45 0.053
346
PLS006 Plasmodium Vivax Malaria 53 0.052
347
VSL002 Visual Epilepsy 31 0.052
348
GRF001 Graft-Versus-Host Disease, Protection Against 52 0.052
349
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 53 0.051
350
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 43 0.051
351
P FTL001 Fetal Alcohol Syndrome 53 0.051
352
c MNN025 Mannosidosis, Alpha-, Types I and Ii 55 0.051
353
CLC006 Calcinosis 50 0.051
354
CVT001 Cavitary Optic Disc Anomalies 31 0.051
355
KRT009 Keratosis 52 0.051
356
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 34 0.050
357
P FBR031 Febrile Seizures 53 0.050
358
P EHL001 Ehlers-Danlos Syndrome 63 0.050
359
HYP264 Hypertonia 39 0.050
360
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 20 0.050
361
c ADL023 Adult Medulloblastoma 51 0.050
362
NRF007 Neurofibroma 53 0.050
363
PLR009 Pol Iii-Related Leukodystrophies 38 0.050
364
P KRB001 Krabbe Disease 69 0.050
365
AMB002 Amblyopia 46 0.050
366
c 3MT015 3-Methylglutaconic Aciduria, Type I 40 0.050
367
FCL011 Facial Nerve Disease 36 0.049
368
PRT011 Protein C Deficiency 52 0.049
369
BTN003 Biotinidase Deficiency 57 0.049
370
ACR008 Acrocallosal Syndrome 52 0.049
371
P CRB019 Cerebral Amyloid Angiopathy 58 0.048
372
PRT018 Portal Vein Thrombosis 49 0.048
373
TYP007 Typhoid Fever 61 0.048
374
c PRG105 Progressive External Ophthalmoplegia, Autosomal Dominant 1 32 0.048
375
P NPH005 Nephronophthisis 55 0.048
376
PRT014 Protein S Deficiency 53 0.048
377
INT075 Intracranial Hypertension 50 0.047
378
WLK001 Walker-Warburg Syndrome 52 0.047
379
MRC001 Marchiafava Bignami Disease 39 0.047
380
P PLZ001 Pelizaeus-Merzbacher Disease 65 0.047
381
LPT001 Leptospirosis 62 0.047
382
P BRD002 Bardet-Biedl Syndrome 63 0.047
383
ATS008 Autosomal Dominant Disease 39 0.047
384
c PRG104 Progressive External Ophthalmoplegia, Autosomal Recessive 1 35 0.047
385
CHC001 Chickenpox 51 0.047
386
P EPD009 Epidermolysis Bullosa Dystrophica 55 0.046
387
c EHL032 Ehlers-Danlos Syndrome, Type Viib 49 0.046
388
BCT002 Bacterial Vaginosis 52 0.046
389
MGL013 Megalencephaly 52 0.046
390
CNT047 Contact Dermatitis 61 0.046
391
ATH004 Athetosis 26 0.045
392
MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 14 0.045
393
c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 25 0.045
394
c CWD006 Cowden Syndrome 1 57 0.045
395
LYM051 Lymphomatoid Granulomatosis 47 0.045
396
c L2H001 L-2-Hydroxyglutaric Aciduria 42 0.045
397
SLC006 Silicosis 53 0.044
398
P CYS017 Cystic Teratoma 40 0.044
399
P OCL013 Oculodentodigital Dysplasia 59 0.044
400
CRS005 Crest Syndrome 51 0.044
401
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 15 0.044
402
CLF027 Cleft Palate, Isolated 55 0.044
403
WLM007 Wilms Tumor Susceptibility-5 63 0.044
404
CHK001 Chikungunya 54 0.044
405
RCH002 Richards-Rundle Syndrome 23 0.043
406
P DNT011 Dentinogenesis Imperfecta 44 0.043
407
c JBR026 Joubert Syndrome 15 26 0.043
408
PRC002 Paracoccidioidomycosis 55 0.043
409
P PNT019 Pontocerebellar Hypoplasia 38 0.043
410
P RTN014 Retinal Artery Occlusion 44 0.042
411
CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 37 0.042
412
P LBR001 Leber Congenital Amaurosis 61 0.042
413
HPT020 Hepatic Vascular Disease 42 0.042
414
ACT087 Acth Deficiency 43 0.042
415
MYH012 Myhre Syndrome 38 0.042
416
PST055 Postural Hypotension 36 0.042
417
CNG048 Congenital Hepatic Fibrosis 44 0.042
418
P MRD002 Marden-Walker Syndrome 46 0.042
419
TXC011 Toxocariasis 36 0.042
420
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 36 0.041
421
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 31 0.041
422
P SPS133 Spastic Paraplegia 2, X-Linked 40 0.041
423
P JNC001 Junctional Epidermolysis Bullosa 49 0.041
424
c PRX043 Peroxisome Biogenesis Disorder 6b 21 0.041
425
CRB159 Cerebral Visual Impairment 33 0.041
426
P MCL013 Mucolipidosis Iv 62 0.040
427
c CNG206 Congenital Disorder of Glycosylation, Type Ie 47 0.040
428
ACR006 Aceruloplasminemia 45 0.040
429
MTC056 Mitochondrial Dna Depletion Syndrome 4a 48 0.040
430
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 57 0.040
431
MLT135 Multiple Sulfatase Deficiency 53 0.040
432
ALL010 Allergic Contact Dermatitis 57 0.040
433
OPT007 Optic Nerve Glioma 41 0.039
434
c OST122 Osteogenesis Imperfecta, Type Iii 59 0.039
435
ADN022 Adenylosuccinase Deficiency 35 0.039
436
DNG002 Dengue Hemorrhagic Fever 63 0.039
437
CHR029 Choroid Plexus Papilloma 55 0.039
438
CRZ001 Crouzon Syndrome 70 0.039
439
c MNT270 Mental Retardation, Autosomal Recessive 53 14 0.039
440
P PRP034 Purpura Fulminans 41 0.039
441
P CNG024 Congenital Nystagmus 40 0.039
442
SBP004 Subependymoma 42 0.038
443
P DMN033 Dementia, Frontotemporal 62 0.038
444
CNT019 Central Neurocytoma 41 0.038
445
LRN001 Laurence-Moon Syndrome 38 0.038
446
THR016 Thrombophlebitis 53 0.038
447
ACR003 Acrodermatitis Enteropathica 49 0.038
448
DRM013 Dermoid Cyst 44 0.038
449
HYP034 Hypertensive Encephalopathy 38 0.038
450
MDL003 Medullomyoblastoma 35 0.037
451
MLG098 Malignant Mixed Mullerian Tumor 36 0.037
452
ATY005 Atypical Teratoid Rhabdoid Tumor 52 0.037
453
DBT090 Diabetes and Deafness, Maternally Inherited 33 0.037
454
c LSS009 Lissencephaly 3 24 0.037
455
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 40 0.037
456
PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 30 0.036
457
SYS034 Systemic Onset Juvenile Idiopathic Arthritis 47 0.036
458
CRB024 Cerebral Neuroblastoma 35 0.036
459
DSN001 De Sanctis-Cacchione Syndrome 25 0.036
460
LYM052 Lymphomatoid Papulosis 41 0.036
461
SCR002 Scurvy 46 0.036
462
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 22 0.036
463
P DBT083 Diabetes Mellitus, Permanent Neonatal 55 0.036
464
CLR011 Clear Cell Ependymoma 35 0.036
465
c SPS020 Spastic Paraplegia 1 23 0.036
466
c PRR020 Perrault Syndrome 1 21 0.035
467
P GRS003 Griscelli Syndrome 51 0.035
468
LRY047 Laryngeal Abductor Paralysis 22 0.035
469
P SLD010 Sialidosis, Type I 54 0.035
470
MDL002 Medulloepithelioma 43 0.035
471
EPL143 Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions 26 0.034
472
c SPS101 Spastic Paraplegia 56, Autosomal Recessive 30 0.034
473
c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38 0.034
474
MLL018 Miller-Dieker Lissencephaly Syndrome 45 0.034
475
c LKD010 Leukodystrophy, Hypomyelinating, 2 40 0.034
476
SGT001 Sagittal Sinus Thrombosis 35 0.034
477
DYS016 Dysgammaglobulinemia 37 0.033
478
TST033 Testicular Regression Syndrome 28 0.033
479
c CCK006 Cockayne Syndrome, Type B 37 0.033
480
PST095 Post-Thrombotic Syndrome 47 0.033
481
c OST121 Osteogenesis Imperfecta, Type Iv 48 0.033
482
CRB038 Cerebral Ventricle Cancer 33 0.033
483
c LRS002 Larsen-Like Syndrome 37 0.033
484
c BSL038 Basal Ganglia Calcification, Idiopathic, 1 23 0.033
485
CFF003 Caffey Disease 54 0.032
486
PSD026 Pseudoainhum 24 0.032
487
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 30 0.032
488
c CNG439 Congenital Lymphedema 34 0.032
489
c LKD009 Leukodystrophy, Hypomyelinating, 5 34 0.031
490
BSL009 Basal Ganglia Calcification 43 0.031
491
ERY021 Erythrokeratodermia Variabilis Et Progressiva 47 0.031
492
P BRC015 Bruck Syndrome 44 0.031
493
SDC002 Sed Congenita 53 0.031
494
c OST080 Osteogenesis Imperfecta, Type Ii 52 0.031
495
STC004 Stachybotrys Chartarum 37 0.031
496
c OST132 Osteogenesis Imperfecta, Type Vi 47 0.031
497
c EHL033 Ehlers-Danlos Syndrome, Classic Type 55 0.031
498
c OST124 Osteogenesis Imperfecta, Type V 48 0.031
499
c BRC048 Bruck Syndrome 2 42 0.030
500
CHR055 Chordoid Meningioma 29 0.030
501
PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 27 0.030
502
c OST118 Osteogenesis Imperfecta, Type Viii 42 0.030
503
c EHL041 Ehlers-Danlos Syndrome, Type Vii 29 0.029
504
CLS035 Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae 20 0.029
505
c LSS006 Lissencephaly 2 29 0.029
506
ECT078 Ectodermal Dysplasia 2, Clouston Type 45 0.029
507
ANH001 Ainhum 30 0.029
508
c GRS014 Griscelli Syndrome, Type 2 51 0.029
509
KRT011 Keratitis-Ichthyosis-Deafness Syndrome 38 0.028
510
HGH023 High Bone Mass Osteogenesis Imperfecta 25 0.028
511
c OST119 Osteogenesis Imperfecta, Type Vii 44 0.028
512
c LKD008 Leukodystrophy, Hypomyelinating, 4 35 0.028
513
PRN052 Perinatally Lethal Osteogenesis Imperfecta 26 0.028
514
PRG091 Progressively Deforming Osteogenesis Imperfecta 22 0.028
515
BRT001 Bart-Pumphrey Syndrome 40 0.028
516
PLV005 Pelviureteric Junction Obstruction 38 0.028
517
LKM059 Leukemia, Megakaryoblastic, with or Without Down Syndrome, Somatic 26 0.028
518
P HYP700 Hypomyelinating Leukodystrophy 29 0.027
519
c PLZ002 Pelizaeus-Merzbacher-Like Disease 26 0.026
520
HYP659 Hypomyelinating Leukoencephalopathy 17 0.026
521
INF033 Infancy Electroclinical Syndrome 21 0.026
522
HYP107 Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome 38 0.025