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"

419 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 5.986
2
CRB092 Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 18 4.739
3
P CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 20 4.416
4
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 22 4.191
5
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 17 3.482
6
c SPN311 Spinocerebellar Ataxia 13 45 3.262
7
c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 25 2.261
8
GLL032 Galloway-Mowat Syndrome 50 2.082
9
P ATX004 Ataxia 53 0.820
10
P CRB042 Cerebellar Ataxia 64 0.493
11
NRN002 Neuronitis 42 0.319
12
P EPL164 Epilepsy 66 0.310
13
P CRB059 Cerebellar Degeneration 32 0.281
14
SPS057 Spasticity 42 0.269
15
CRB009 Cerebritis 38 0.262
16
P INT063 Intellectual Disability 53 0.260
17
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 38 0.234
18
P SCH015 Schizophrenia 76 0.231
19
RTN023 Retinitis 49 0.228
20
P NRP001 Neuropathy 60 0.228
21
P HPT021 Hepatitis 70 0.227
22
P LYM118 Lymphoma 70 0.224
23
P TRM003 Tremor 54 0.221
24
P BRS047 Breast Cancer 100 0.221
25
P LKM002 Leukemia 70 0.217
26
CRB045 Cerebellar Hypoplasia 48 0.215
27
P FRD001 Friedreich Ataxia 62 0.211
28
P MCR010 Microcephaly 58 0.210
29
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.200
30
DSS008 Disease of Mental Health 55 0.198
31
c ATS308 Autosomal Dominant Cerebellar Ataxia 49 0.192
32
P ENC018 Encephalopathy 59 0.188
33
CRB027 Cerebellar Disease 47 0.187
34
DMN002 Dementia 64 0.183
35
P ADN016 Adenocarcinoma 69 0.183
36
P LNG032 Lung Cancer 94 0.183
37
c HRD026 Hereditary Ataxia 47 0.175
38
P CTR002 Cataract 57 0.173
39
P HYP265 Hypotonia 39 0.173
40
P THY032 Thyroiditis 54 0.170
41
HYP080 Hypogonadism 54 0.168
42
P HRT032 Heart Disease 76 0.167
43
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 44 0.166
44
P ART022 Arthritis 75 0.165
45
P MYP004 Myopathy 67 0.164
46
P AST007 Astrocytoma 65 0.162
47
ALR002 Al-Raqad Syndrome 36 0.161
48
END072 Endotheliitis 42 0.158
49
P MSC005 Muscular Dystrophy 64 0.157
50
LRN003 Learning Disability 51 0.156
51
P DYS154 Dystonia 64 0.154
52
P CRV039 Cervicitis 44 0.152
53
PRP016 Paraplegia 49 0.149
54
P SPN301 Spinocerebellar Ataxia 2 63 0.149
55
P EPS003 Episodic Ataxia 56 0.148
56
TTR016 Tetra-Amelia Syndrome 36 0.148
57
P MCH002 Machado-Joseph Disease 62 0.147
58
c ATS307 Autosomal Recessive Cerebellar Ataxia 29 0.145
59
P ATX024 Ataxia-Oculomotor Apraxia 3 31 0.145
60
PRS047 Prostatitis 56 0.143
61
MYC033 Myoclonus 41 0.142
62
P PNC044 Pancreatitis 60 0.138
63
P BPL003 Bipolar Disorder 62 0.138
64
MLT021 Multiple System Atrophy 71 0.138
65
ANR040 Aneurysm 57 0.136
66
NTR005 Nutritional Deficiency Disease 39 0.135
67
INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 29 0.134
68
AYM001 Ayme-Gripp Syndrome 45 0.133
69
MVM001 Movement Disease 54 0.133
70
APR001 Apraxia 48 0.132
71
c SPN294 Spinocerebellar Ataxia 1 55 0.132
72
P HYD006 Hydrocephalus 67 0.131
73
P SPS003 Spastic Diplegia 53 0.129
74
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 29 0.128
75
P HYP086 Hypothyroidism 65 0.128
76
ANX002 Anxiety Disorder 69 0.128
77
P OVR042 Ovarian Cancer 75 0.128
78
ACD009 Acid-Labile Subunit, Deficiency of 48 0.128
79
P FRG001 Fragile X Syndrome 68 0.127
80
CRB037 Cerebral Palsy 54 0.127
81
SLP005 Sleep Disorder 53 0.126
82
SPN050 Spinocerebellar Degeneration 37 0.126
83
P MNN013 Meningitis 65 0.126
84
INS024 Insulin-Like Growth Factor I 74 0.125
85
ANR002 Aniridia 60 0.125
86
P GLM045 Glioma 58 0.124
87
AND005 Androgen Insensitivity Syndrome, Mild 16 0.122
88
PHY002 Physical Disorder 44 0.122
89
CHL071 Child Syndrome 58 0.122
90
KDS001 Kid Syndrome 53 0.122
91
P ENC004 Encephalitis 61 0.121
92
P ATS049 Autism Susceptibility, X-Linked 2 35 0.120
93
P ESP024 Esophagitis 62 0.120
94
P RTN008 Retinitis Pigmentosa 79 0.119
95
c SYS001 Systemic Lupus Erythematosus 87 0.118
96
P LVR013 Liver Disease 72 0.117
97
HPT074 Hepatic Adenoma, Somatic 51 0.114
98
GLL028 Gillespie Syndrome 40 0.113
99
P DBT085 Diabetes Mellitus, Insulin-Dependent 80 0.113
100
HNM002 Hinman Syndrome 25 0.113
101
c EPS035 Episodic Ataxia, Type 2 55 0.112
102
PCK002 Pick Disease 67 0.112
103
STR067 Stroke, Ischemic 77 0.111
104
CRB033 Cerebral Degeneration 46 0.111
105
SNS001 Sensorineural Hearing Loss 57 0.111
106
P PTS002 Ptosis 56 0.110
107
MLR004 Malaria 79 0.109
108
ALP008 Alopecia 55 0.109
109
P PNM007 Pneumonia 66 0.108
110
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.108
111
P PLY019 Polyneuropathy 54 0.107
112
DWN001 Down Syndrome 65 0.106
113
c CNT035 Central Nervous System Disease 59 0.104
114
P THR014 Thrombocytopenia 64 0.104
115
CLF001 Cleft Lip 49 0.104
116
MRG013 Mirage Syndrome 26 0.103
117
P RTN016 Retinal Degeneration 54 0.103
118
c SPN309 Spinocerebellar Ataxia 6 51 0.102
119
BRN071 Brain Injury 52 0.102
120
P DRR001 Diarrhea 51 0.102
121
NRM005 Neuromuscular Disease 57 0.102
122
c SPN291 Spinocerebellar Ataxia 7 49 0.101
123
SPC010 Speech and Communication Disorders 46 0.101
124
c BRN108 Branchiootic Syndrome 1 36 0.101
125
EXF001 Exfoliation Syndrome 57 0.100
126
CHR008 Choroiditis 43 0.100
127
P AXN010 Axenfeld-Rieger Syndrome, Type 3 54 0.100
128
SXL003 Sexual Disorder 47 0.100
129
P SHR029 Short Syndrome 60 0.099
130
FML039 Female Reproductive System Disease 48 0.099
131
MSC004 Muscle Tissue Disease 36 0.099
132
P MSC033 Muscle Disorders 52 0.099
133
P PLN008 Peeling Skin Syndrome 47 0.099
134
SPC005 Speech Disorder 43 0.096
135
ATS001 Autistic Disorder 59 0.096
136
BNS002 Bone Structure Disease 36 0.096
137
P INF032 Infertility 61 0.096
138
P MTC069 Mitochondrial Disorders 52 0.095
139
DFC004 Deficiency Anemia 65 0.095
140
c HRD010 Hereditary Spastic Paraplegia 65 0.095
141
P BRC006 Brachydactyly 52 0.094
142
WTH001 Withdrawal Disorder 41 0.094
143
c ESS001 Essential Tremor 61 0.093
144
MTH009 Mouth Disease 63 0.093
145
P HMP006 Hemiplegic Migraine 44 0.093
146
P RTT002 Rett Syndrome 78 0.093
147
P PLY006 Polydactyly 55 0.093
148
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.092
149
GLB003 Globe Disease 35 0.092
150
P INT068 Intestinal Disease 61 0.092
151
P SCL018 Scoliosis 56 0.092
152
c SPN293 Spinocerebellar Ataxia 12 50 0.091
153
SPS019 Spastic Paraparesis 34 0.091
154
P HMR003 Hemorrhagic Disease 57 0.091
155
DVL001 Developmental Coordination Disorder 37 0.091
156
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 34 0.091
157
P ANG001 Angelman Syndrome 61 0.090
158
c SPN304 Spinocerebellar Ataxia 8 50 0.090
159
VND001 Vein Disease 52 0.090
160
P INF038 Influenza 74 0.089
161
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 30 0.088
162
WLL006 Wells Syndrome 56 0.087
163
P PNC035 Pancreatic Cancer 85 0.087
164
GDS001 Good Syndrome 45 0.087
165
P AMY004 Amyloidosis 64 0.086
166
HYP064 Hypogonadotropism 38 0.085
167
P DBT005 Diabetes Insipidus 53 0.085
168
BSL008 Basal Ganglia Disease 43 0.085
169
P LRY019 Laryngitis 55 0.085
170
EPD016 Epidermolysis Bullosa 57 0.085
171
PRP030 Purpura 59 0.084
172
P MSC003 Muscular Atrophy 51 0.084
173
P ALX003 Alexander Disease 64 0.084
174
MCR013 Microphthalmia 59 0.083
175
P GLM007 Glomerulonephritis 56 0.083
176
c FML023 Familial Hemiplegic Migraine 55 0.083
177
P LKD001 Leukodystrophy 58 0.083
178
ECT006 Ectodermal Dysplasia 47 0.083
179
c SPN096 Spinocerebellar Ataxia 21 35 0.083
180
ATR060 Atrial Standstill, Digenic 53 0.083
181
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 26 0.082
182
P CLC005 Celiac Disease 67 0.081
183
P PRD006 Prader-Willi Syndrome 63 0.081
184
c PLN018 Peeling Skin Syndrome 2 35 0.081
185
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 60 0.081
186
CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 18 0.080
187
AMN006 Aminoaciduria 42 0.080
188
TTH006 Tooth Disease 52 0.080
189
P LTR001 Lateral Sclerosis 52 0.080
190
DYS073 Dysphagia 49 0.080
191
MYC026 Myoclonus Epilepsy 33 0.079
192
SSM001 Sesame Syndrome 53 0.079
193
P CRB088 Cerebral Atrophy 42 0.078
194
OPT006 Optic Nerve Disease 51 0.078
195
P PNC001 Pancytopenia 52 0.078
196
c SPN296 Spinocerebellar Ataxia 17 48 0.078
197
P HNT016 Huntington Disease 80 0.078
198
P SYN064 Syndromic X-Linked Intellectual Disability 24 0.078
199
STM006 Stomach Disease 50 0.077
200
ATN005 Autonomic Dysfunction 45 0.077
201
HMP005 Hemiplegia 54 0.076
202
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.076
203
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 29 0.076
204
CCH002 Coach Syndrome 54 0.076
205
P HYP024 Hypoparathyroidism 52 0.075
206
MNT014 Mental Retardation Epilepsy 22 0.075
207
P STR020 Strabismus 53 0.075
208
MTR014 Motor Neuron Disease 59 0.075
209
c PLN021 Peeling Skin Syndrome 3 31 0.074
210
FST001 Foster-Kennedy Syndrome 34 0.074
211
c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 30 0.074
212
NSY001 N Syndrome 39 0.074
213
P PRK057 Parkinson Disease, Late-Onset 72 0.073
214
P LCT001 Lactic Acidosis 52 0.073
215
STF001 Stiff-Person Syndrome 56 0.073
216
DND001 Dandy-Walker Syndrome 44 0.072
217
PPL022 Papilloma 55 0.072
218
c DLT002 Dilated Cardiomyopathy 75 0.072
219
WDH003 Woodhouse-Sakati Syndrome 41 0.072
220
c CNG006 Congenital Hypothyroidism 59 0.071
221
PLY024 Polymicrogyria 36 0.071
222
P MRN003 Marinesco-Sjogren Syndrome 35 0.071
223
APH002 Aphasia 53 0.071
224
P NJM001 Nijmegen Breakage Syndrome 66 0.071
225
MRC001 Marchiafava Bignami Disease 50 0.071
226
P OST005 Osteogenesis Imperfecta 67 0.071
227
BND014 Bone Development Disease 42 0.070
228
ATX003 Ataxia with Isolated Vitamin E Deficiency 44 0.070
229
SWL001 Swallowing Disorders 34 0.069
230
P MYP006 Myopia 59 0.069
231
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 36 0.069
232
CHN016 Cohen Syndrome 55 0.069
233
MTC024 Mitochondrial Genetic Disorders 14 0.069
234
BHR001 Behr Syndrome 44 0.069
235
SXD001 Sex Differentiation Disease 40 0.069
236
SPS007 Spastic Cerebral Palsy 45 0.069
237
LMB024 Limbic Encephalitis 36 0.069
238
c SPN103 Spinocerebellar Ataxia 31 36 0.069
239
KRN002 Kearns-Sayre Syndrome 59 0.068
240
KHL003 Kohlschutter-Tonz Syndrome 37 0.068
241
c PLN017 Peeling Skin Syndrome 1 33 0.068
242
FCL014 Focal Epilepsy 56 0.068
243
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27 0.067
244
KLN001 Klinefelter's Syndrome 55 0.067
245
CRB030 Cerebellum Cancer 38 0.067
246
P SPN202 Spinocerebellar Ataxia, X-Linked 1 27 0.067
247
P END033 Endocarditis 52 0.067
248
TNS005 Tonsillitis 58 0.066
249
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25 0.066
250
ATS010 Autosomal Recessive Disease 41 0.066
251
P CRN035 Cranial Nerve Palsy 43 0.065
252
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 25 0.065
253
P LGH007 Leigh Syndrome 70 0.065
254
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 56 0.065
255
VTM002 Vitamin B12 Deficiency 44 0.064
256
WLS001 Wilson Disease 72 0.064
257
ERD001 Erdheim-Chester Disease 51 0.063
258
FRG010 Fragile X Tremor/ataxia Syndrome 37 0.063
259
CRT012 Cortical Blindness 36 0.063
260
PLY023 Polycystic Liver Disease 57 0.063
261
ADP007 Adie Pupil 34 0.063
262
c ATM010 Autoimmune Hemolytic Anemia 60 0.063
263
CLR109 Colorectal Adenocarcinoma 50 0.063
264
P ATX010 Ataxia Neuropathy Spectrum 28 0.063
265
CHR078 Chorioretinitis 41 0.062
266
LPM004 Lipoma 58 0.062
267
P LSS024 Lissencephaly with Cerebellar Hypoplasia 35 0.062
268
P SLL003 Salla Disease 43 0.061
269
P ENC011 Encephalomyopathy 34 0.061
270
P RTN024 Retinoblastoma 75 0.061
271
CYS013 Cystinuria 63 0.061
272
ALB002 Albinism 43 0.061
273
c SPN094 Spinocerebellar Ataxia 18 35 0.061
274
P TYS001 Tay-Sachs Disease 71 0.061
275
P MTC003 Metachromatic Leukodystrophy 71 0.060
276
WLL001 Williams-Beuren Syndrome 61 0.060
277
VSL002 Visual Epilepsy 32 0.060
278
IRN001 Iron Deficiency Anemia 51 0.060
279
DNT016 Dentatorubro-Pallidoluysian Atrophy 48 0.059
280
TMP001 Temporal Lobe Epilepsy 51 0.059
281
PLV005 Pelviureteric Junction Obstruction 45 0.059
282
ADR007 Adrenoleukodystrophy 71 0.059
283
P MTC004 Mitochondrial Encephalomyopathy 40 0.058
284
P CHR071 Charcot-Marie-Tooth Disease 66 0.058
285
P FTL001 Fetal Alcohol Syndrome 53 0.057
286
HLL004 Hellp Syndrome 49 0.057
287
P XLN007 X-Linked Disease 34 0.057
288
c HMP029 Hemophilia a 64 0.057
289
MVL001 Mevalonic Aciduria 54 0.057
290
CRP010 Corpus Callosum Agenesis 40 0.057
291
P PSD015 Pseudohypoparathyroidism 44 0.057
292
CRB150 Cerebral Creatine Deficiency Syndrome 2 48 0.056
293
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 51 0.056
294
PRN023 Prion Disease 48 0.056
295
RST001 Restless Legs Syndrome 54 0.056
296
c DYS119 Dystonia 9 37 0.056
297
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 20 0.056
298
MSC072 Muscle Cancer 51 0.056
299
MNN032 Meningococcal Meningitis 38 0.055
300
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 53 0.054
301
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 47 0.054
302
LYS002 Lysosomal Storage Disease 52 0.054
303
THL018 Thalassemia Major 42 0.054
304
OCL011 Ocular Motility Disease 38 0.054
305
INT075 Intracranial Hypertension 53 0.054
306
RHM015 Rhombencephalosynapsis 24 0.053
307
P DRV001 Dravet Syndrome 68 0.053
308
HYP264 Hypertonia 40 0.053
309
P CWD006 Cowden Syndrome 1 68 0.053
310
ARG002 Argininosuccinic Aciduria 57 0.053
311
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 42 0.052
312
PTN001 Patent Foramen Ovale 54 0.052
313
ACR008 Acrocallosal Syndrome 51 0.052
314
CVT001 Cavitary Optic Disc Anomalies 32 0.052
315
c PRG104 Progressive External Ophthalmoplegia, Autosomal Recessive 1 38 0.051
316
THR013 Thoracic Outlet Syndrome 49 0.051
317
ATS008 Autosomal Dominant Disease 42 0.051
318
BTN003 Biotinidase Deficiency 56 0.051
319
P NPH005 Nephronophthisis 55 0.051
320
OPS006 Opsoclonus-Myoclonus Syndrome 46 0.051
321
MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 14 0.051
322
P BRD002 Bardet-Biedl Syndrome 62 0.050
323
c PRG105 Progressive External Ophthalmoplegia, Autosomal Dominant 1 34 0.050
324
CNG048 Congenital Hepatic Fibrosis 45 0.050
325
P KRB001 Krabbe Disease 69 0.050
326
CLC006 Calcinosis 49 0.050
327
ATH004 Athetosis 25 0.049
328
P CHN012 Chondrosarcoma 57 0.049
329
c 3MT015 3-Methylglutaconic Aciduria, Type I 39 0.049
330
c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24 0.049
331
P PLZ001 Pelizaeus-Merzbacher Disease 64 0.049
332
CRN031 Cranial Nerve Disease 40 0.048
333
P DNT011 Dentinogenesis Imperfecta 42 0.048
334
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 15 0.048
335
c MNN025 Mannosidosis, Alpha-, Types I and Ii 54 0.048
336
MGL013 Megalencephaly 51 0.047
337
CHD001 Chediak-Higashi Syndrome 64 0.047
338
MYH012 Myhre Syndrome 35 0.047
339
P CNG024 Congenital Nystagmus 40 0.047
340
P RBL001 Rubella 56 0.047
341
HYP586 Hypogonadotropic Hypogonadism 7 Without Anosmia 33 0.046
342
MRS004 Marshall-Smith Syndrome 41 0.046
343
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.046
344
P CRB019 Cerebral Amyloid Angiopathy 58 0.046
345
TXC011 Toxocariasis 37 0.046
346
PLR009 Pol Iii-Related Leukodystrophies 37 0.046
347
c CNG206 Congenital Disorder of Glycosylation, Type Ie 46 0.046
348
P MRD002 Marden-Walker Syndrome 46 0.046
349
AMB002 Amblyopia 46 0.046
350
CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 33 0.046
351
CLF027 Cleft Palate, Isolated 56 0.045
352
P MCL013 Mucolipidosis Iv 63 0.045
353
P PNT019 Pontocerebellar Hypoplasia 37 0.045
354
BCT002 Bacterial Vaginosis 51 0.044
355
RCH002 Richards-Rundle Syndrome 23 0.044
356
P HLL001 Hallermann-Streiff Syndrome 53 0.044
357
DNG002 Dengue Hemorrhagic Fever 62 0.044
358
P SCK009 Seckel Syndrome 1 46 0.043
359
CRB159 Cerebral Visual Impairment 40 0.043
360
c MNT270 Mental Retardation, Autosomal Recessive 53 13 0.043
361
NRN008 Neuronal Intranuclear Inclusion Disease 39 0.043
362
ADN022 Adenylosuccinase Deficiency 35 0.043
363
MTC056 Mitochondrial Dna Depletion Syndrome 4a 43 0.042
364
c PRX043 Peroxisome Biogenesis Disorder 6b 21 0.042
365
c NMN015 Niemann-Pick Disease, Type C1 64 0.042
366
MTR010 Mature Teratoma 42 0.042
367
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 25 0.041
368
P LBR001 Leber Congenital Amaurosis 60 0.041
369
c OST122 Osteogenesis Imperfecta, Type Iii 58 0.041
370
P OST028 Osteochondroma 48 0.041
371
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 24 0.041
372
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 58 0.040
373
ACR003 Acrodermatitis Enteropathica 48 0.040
374
LRN001 Laurence-Moon Syndrome 38 0.040
375
c ACQ014 Acquired Hemophilia 42 0.039
376
TRC003 Trichomoniasis 41 0.039
377
c JBR026 Joubert Syndrome 15 25 0.039
378
MLT135 Multiple Sulfatase Deficiency 53 0.039
379
ORM002 Oromandibular Dystonia 31 0.039
380
c SPS020 Spastic Paraplegia 1 23 0.039
381
INT146 Intervertebral Disc Disease 62 0.039
382
c LSS009 Lissencephaly 3 24 0.039
383
DSN001 De Sanctis-Cacchione Syndrome 25 0.039
384
P SLD010 Sialidosis, Type I 54 0.038
385
SCR002 Scurvy 45 0.038
386
DBT090 Diabetes and Deafness, Maternally Inherited 33 0.038
387
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 22 0.038
388
MGL016 Megaloblastic Anemia-1, Finnish Type 46 0.038
389
PRP028 Peripheral Vertigo 41 0.038
390
LRY047 Laryngeal Abductor Paralysis 23 0.037
391
PNM003 Pneumatosis Cystoides Intestinalis 31 0.037
392
c PRR020 Perrault Syndrome 1 20 0.037
393
P OCL013 Oculodentodigital Dysplasia 59 0.037
394
DVL005 Developmental Dyspraxia 21 0.037
395
c ACQ042 Acquired Hemophilia a 39 0.036
396
NRL008 Neural Crest Tumor 25 0.036
397
EPL143 Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions 26 0.036
398
c CCK006 Cockayne Syndrome, Type B 37 0.036
399
c OST121 Osteogenesis Imperfecta, Type Iv 48 0.035
400
PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 31 0.035
401
MRN001 Marantic Endocarditis 32 0.035
402
c BSL038 Basal Ganglia Calcification, Idiopathic, 1 24 0.034
403
SPN185 Spinal Cord Infarction 36 0.034
404
ESN004 Eosinophilic Gastritis 42 0.034
405
BSL006 Basaloid Squamous Cell Carcinoma 41 0.033
406
BSL009 Basal Ganglia Calcification 43 0.033
407
c OST132 Osteogenesis Imperfecta, Type Vi 48 0.033
408
MRS001 Marasmus 39 0.032
409
P BRC048 Bruck Syndrome 2 45 0.032
410
CMP009 Complement Deficiency 39 0.032
411
HYP107 Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome 39 0.032
412
c LSS006 Lissencephaly 2 28 0.031
413
c ACQ005 Acquired Thrombocytopenia 37 0.031
414
LKM059 Leukemia, Megakaryoblastic, with or Without Down Syndrome, Somatic 26 0.030
415
ASC003 Ascending Cholangitis 29 0.029
416
P HYP700 Hypomyelinating Leukodystrophy 32 0.029
417
SWT002 Sweat Gland Cancer 40 0.028
418
c PLZ002 Pelizaeus-Merzbacher-Like Disease 26 0.028
419
HYP659 Hypomyelinating Leukoencephalopathy 16 0.027