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"

418 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 5.826
2
P CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 20 4.436
3
CRB092 Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 19 3.914
4
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 20 3.529
5
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 17 3.494
6
c SPN311 Spinocerebellar Ataxia 13 42 3.279
7
MVD001 Moved to 60 2.519
8
GLL032 Galloway-Mowat Syndrome 52 1.831
9
P ATX004 Ataxia 53 0.837
10
P CRB042 Cerebellar Ataxia 64 0.510
11
NRN002 Neuronitis 40 0.328
12
P EPL164 Epilepsy 60 0.327
13
P INT063 Intellectual Disability 46 0.318
14
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.294
15
SPS057 Spasticity 41 0.293
16
P CRB059 Cerebellar Degeneration 30 0.280
17
CRB009 Cerebritis 36 0.277
18
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 32 0.270
19
RTN023 Retinitis 49 0.244
20
P NRP001 Neuropathy 57 0.243
21
P SCH015 Schizophrenia 78 0.237
22
P TRM003 Tremor 54 0.234
23
P MCR010 Microcephaly 60 0.233
24
P ENC018 Encephalopathy 59 0.231
25
P HPT021 Hepatitis 74 0.230
26
CRB045 Cerebellar Hypoplasia 47 0.229
27
P BRS047 Breast Cancer 100 0.224
28
P LYM118 Lymphoma 68 0.223
29
P LKM002 Leukemia 70 0.221
30
P FRD001 Friedreich Ataxia 62 0.212
31
c HRD026 Hereditary Ataxia 46 0.210
32
ALR002 Al-Raqad Syndrome 36 0.206
33
c ATS308 Autosomal Dominant Cerebellar Ataxia 51 0.204
34
DSS008 Disease of Mental Health 48 0.202
35
P HYP265 Hypotonia 39 0.202
36
CRB027 Cerebellar Disease 46 0.198
37
DMN002 Dementia 62 0.194
38
P ADN016 Adenocarcinoma 69 0.189
39
P LNG032 Lung Cancer 92 0.188
40
P CTR002 Cataract 57 0.187
41
HYP080 Hypogonadism 54 0.186
42
P MYP004 Myopathy 67 0.176
43
P AST007 Astrocytoma 66 0.174
44
SPN041 Spinal Cord Disease 50 0.174
45
P THY032 Thyroiditis 57 0.174
46
PRP016 Paraplegia 49 0.167
47
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 42 0.165
48
END072 Endotheliitis 41 0.165
49
P MSC005 Muscular Dystrophy 64 0.163
50
c ATS307 Autosomal Recessive Cerebellar Ataxia 27 0.163
51
P DYS154 Dystonia 62 0.161
52
LRN003 Learning Disability 49 0.161
53
P CRD011 Cardiomyopathy 66 0.159
54
AYM001 Ayme-Gripp Syndrome 40 0.158
55
P ATS049 Autism Susceptibility, X-Linked 2 34 0.157
56
P CRV039 Cervicitis 45 0.155
57
P MCH002 Machado-Joseph Disease 63 0.154
58
P HRT032 Heart Disease 64 0.153
59
P EPS003 Episodic Ataxia 58 0.153
60
PRS047 Prostatitis 56 0.150
61
MYC033 Myoclonus 41 0.149
62
c CNG401 Congenital Heart Disease 67 0.148
63
P PNC044 Pancreatitis 62 0.143
64
P BPL003 Bipolar Disorder 58 0.143
65
APR001 Apraxia 50 0.142
66
P CLR023 Colorectal Cancer 96 0.142
67
c BRN108 Branchiootic Syndrome 1 36 0.142
68
ANR040 Aneurysm 56 0.140
69
NTR005 Nutritional Deficiency Disease 51 0.140
70
MLT021 Multiple System Atrophy 71 0.140
71
P HYD006 Hydrocephalus 68 0.139
72
P SPN301 Spinocerebellar Ataxia 2 57 0.139
73
P HYP086 Hypothyroidism 63 0.136
74
c CNT035 Central Nervous System Disease 60 0.136
75
INS024 Insulin-Like Growth Factor I 75 0.136
76
c SPN294 Spinocerebellar Ataxia 1 54 0.136
77
PHY002 Physical Disorder 43 0.136
78
P SPS003 Spastic Diplegia 49 0.136
79
P THL005 Thalassemia 61 0.135
80
MVM001 Movement Disease 45 0.134
81
CRB037 Cerebral Palsy 54 0.133
82
MLN008 Melanoma 61 0.133
83
P FRG001 Fragile X Syndrome 68 0.132
84
P RTN008 Retinitis Pigmentosa 78 0.131
85
ANR002 Aniridia 62 0.130
86
P OVR042 Ovarian Cancer 73 0.130
87
ANX002 Anxiety Disorder 67 0.128
88
P MNN013 Meningitis 66 0.128
89
P ESP024 Esophagitis 62 0.127
90
P GLM045 Glioma 53 0.127
91
c SYS001 Systemic Lupus Erythematosus 87 0.125
92
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 28 0.125
93
SNS001 Sensorineural Hearing Loss 52 0.125
94
KDS001 Kid Syndrome 53 0.124
95
CHL071 Child Syndrome 58 0.124
96
ALP008 Alopecia 56 0.124
97
P PTS002 Ptosis 56 0.124
98
P DBT085 Diabetes Mellitus, Insulin-Dependent 80 0.123
99
P ENC004 Encephalitis 60 0.122
100
P PLY019 Polyneuropathy 53 0.121
101
P PNM007 Pneumonia 67 0.121
102
P SHR029 Short Syndrome 60 0.119
103
CRB033 Cerebral Degeneration 45 0.116
104
GLL028 Gillespie Syndrome 39 0.115
105
P AXN010 Axenfeld-Rieger Syndrome, Type 3 52 0.115
106
c EPS035 Episodic Ataxia, Type 2 54 0.114
107
CHR008 Choroiditis 43 0.113
108
P RTN016 Retinal Degeneration 50 0.112
109
MLR004 Malaria 80 0.112
110
PCK002 Pick Disease 66 0.111
111
P THR014 Thrombocytopenia 63 0.111
112
P DRR001 Diarrhea 60 0.111
113
DWN001 Down Syndrome 65 0.111
114
c SPN291 Spinocerebellar Ataxia 7 49 0.110
115
GST050 Gastrointestinal System Disease 58 0.110
116
OLV001 Olivopontocerebellar Atrophy 53 0.109
117
RPR002 Reproductive System Disease 45 0.108
118
c HRD010 Hereditary Spastic Paraplegia 66 0.108
119
BLD054 Blood Protein Disease 38 0.107
120
MSC004 Muscle Tissue Disease 35 0.107
121
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.107
122
STR067 Stroke, Ischemic 74 0.107
123
P PLY006 Polydactyly 56 0.107
124
c SPN309 Spinocerebellar Ataxia 6 48 0.106
125
BRN071 Brain Injury 51 0.106
126
P BRC006 Brachydactyly 53 0.105
127
SPC005 Speech Disorder 41 0.104
128
P SCL018 Scoliosis 56 0.104
129
SXL003 Sexual Disorder 45 0.104
130
FML039 Female Reproductive System Disease 49 0.103
131
NRM005 Neuromuscular Disease 56 0.103
132
P INF032 Infertility 61 0.102
133
c ESS001 Essential Tremor 58 0.102
134
HPT074 Hepatic Adenoma, Somatic 35 0.100
135
DFC004 Deficiency Anemia 64 0.100
136
P MSC033 Muscle Disorders 52 0.099
137
EXF001 Exfoliation Syndrome 56 0.099
138
P MTC069 Mitochondrial Disorders 51 0.099
139
SPC010 Speech and Communication Disorders 42 0.098
140
P DBT005 Diabetes Insipidus 53 0.098
141
P SYN001 Syndactyly 49 0.098
142
ATS001 Autistic Disorder 60 0.097
143
HYP064 Hypogonadotropism 38 0.097
144
VND001 Vein Disease 51 0.097
145
P PLN008 Peeling Skin Syndrome 45 0.097
146
P RTT002 Rett Syndrome 77 0.097
147
P HMP006 Hemiplegic Migraine 45 0.097
148
MCR013 Microphthalmia 57 0.097
149
P MSC003 Muscular Atrophy 51 0.096
150
CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 18 0.096
151
SPS019 Spastic Paraparesis 34 0.096
152
P AMY004 Amyloidosis 63 0.096
153
WTH001 Withdrawal Disorder 36 0.095
154
PRP030 Purpura 60 0.095
155
ECT006 Ectodermal Dysplasia 46 0.095
156
P STR020 Strabismus 55 0.095
157
EPD016 Epidermolysis Bullosa 59 0.095
158
BNS002 Bone Structure Disease 37 0.095
159
GLB003 Globe Disease 34 0.094
160
P INT068 Intestinal Disease 60 0.094
161
P LKD001 Leukodystrophy 58 0.093
162
P TBR001 Tuberous Sclerosis 68 0.093
163
P ANG001 Angelman Syndrome 62 0.092
164
P GLM007 Glomerulonephritis 56 0.092
165
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 77 0.092
166
P LRY019 Laryngitis 55 0.092
167
BSL008 Basal Ganglia Disease 40 0.091
168
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 32 0.091
169
P HNT016 Huntington Disease 80 0.090
170
P PNC035 Pancreatic Cancer 86 0.089
171
P AXN001 Axonal Neuropathy 37 0.089
172
P CLC005 Celiac Disease 67 0.089
173
P NRF002 Neurofibromatosis 66 0.089
174
KHL003 Kohlschutter-Tonz Syndrome 35 0.089
175
P INF038 Influenza 71 0.088
176
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 27 0.088
177
WLL006 Wells Syndrome 57 0.087
178
DVL001 Developmental Coordination Disorder 36 0.087
179
ATR060 Atrial Standstill, Digenic 51 0.087
180
c FML023 Familial Hemiplegic Migraine 55 0.087
181
GDS001 Good Syndrome 46 0.087
182
VSL002 Visual Epilepsy 30 0.086
183
TTH006 Tooth Disease 52 0.086
184
OTP003 Oto-Palatal-Digital Syndrome 14 0.085
185
KLN001 Klinefelter's Syndrome 52 0.085
186
P MYC026 Myoclonus Epilepsy 33 0.085
187
AMN006 Aminoaciduria 39 0.085
188
PRN039 Paraneoplastic Syndromes 42 0.084
189
P ALX003 Alexander Disease 64 0.083
190
DYS073 Dysphagia 51 0.083
191
P PRD006 Prader-Willi Syndrome 64 0.083
192
P CRB088 Cerebral Atrophy 40 0.082
193
ATN005 Autonomic Dysfunction 44 0.082
194
MNT014 Mental Retardation Epilepsy 21 0.082
195
c SPN096 Spinocerebellar Ataxia 21 33 0.082
196
P OST005 Osteogenesis Imperfecta 68 0.081
197
c PLN018 Peeling Skin Syndrome 2 36 0.081
198
OPT006 Optic Nerve Disease 47 0.081
199
P PNC001 Pancytopenia 53 0.081
200
P LTR001 Lateral Sclerosis 50 0.081
201
P HYP024 Hypoparathyroidism 52 0.080
202
STF001 Stiff-Person Syndrome 54 0.080
203
HMP005 Hemiplegia 52 0.079
204
SSM001 Sesame Syndrome 53 0.079
205
LMB024 Limbic Encephalitis 35 0.079
206
c CNG006 Congenital Hypothyroidism 59 0.079
207
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 44 0.079
208
BND014 Bone Development Disease 40 0.078
209
DND001 Dandy-Walker Syndrome 42 0.078
210
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 60 0.078
211
P LCT001 Lactic Acidosis 52 0.078
212
MTR014 Motor Neuron Disease 57 0.078
213
PPL022 Papilloma 54 0.078
214
P END033 Endocarditis 52 0.078
215
APH002 Aphasia 52 0.078
216
PLY023 Polycystic Liver Disease 57 0.078
217
MTC054 Mitochondrial Dna Depletion Syndrome 7 38 0.077
218
P MYP006 Myopia 58 0.077
219
CCH002 Coach Syndrome 53 0.077
220
KRN002 Kearns-Sayre Syndrome 60 0.077
221
PLY024 Polymicrogyria 34 0.077
222
CRT012 Cortical Blindness 36 0.077
223
STM006 Stomach Disease 48 0.076
224
c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 28 0.076
225
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26 0.076
226
TNS005 Tonsillitis 58 0.076
227
P PRK057 Parkinson Disease, Late-Onset 72 0.076
228
NSY001 N Syndrome 42 0.076
229
FCL014 Focal Epilepsy 55 0.076
230
SXD001 Sex Differentiation Disease 39 0.075
231
c DLT002 Dilated Cardiomyopathy 75 0.075
232
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 40 0.075
233
P MRN003 Marinesco-Sjogren Syndrome 37 0.074
234
P HYP061 Hypertrophic Cardiomyopathy 64 0.074
235
CHR078 Chorioretinitis 41 0.074
236
SPS007 Spastic Cerebral Palsy 42 0.074
237
FST001 Foster-Kennedy Syndrome 31 0.074
238
CLR109 Colorectal Adenocarcinoma 50 0.074
239
P CRN035 Cranial Nerve Palsy 44 0.074
240
P HMP007 Hemophilia 55 0.073
241
c PLN021 Peeling Skin Syndrome 3 30 0.073
242
P NJM001 Nijmegen Breakage Syndrome 68 0.073
243
FRG010 Fragile X Tremor/ataxia Syndrome 36 0.072
244
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 42 0.072
245
c SPN103 Spinocerebellar Ataxia 31 36 0.072
246
P LSS024 Lissencephaly with Cerebellar Hypoplasia 36 0.072
247
THR013 Thoracic Outlet Syndrome 48 0.072
248
ERD001 Erdheim-Chester Disease 51 0.072
249
CRB030 Cerebellum Cancer 37 0.071
250
VTM002 Vitamin B12 Deficiency 45 0.071
251
P SYN064 Syndromic X-Linked Intellectual Disability 18 0.071
252
CHN016 Cohen Syndrome 55 0.071
253
P LGH007 Leigh Syndrome 70 0.071
254
ATX003 Ataxia with Isolated Vitamin E Deficiency 36 0.071
255
SWL001 Swallowing Disorders 33 0.070
256
ATS010 Autosomal Recessive Disease 40 0.070
257
PLM001 Pulmonary Tuberculosis 69 0.070
258
c ATM010 Autoimmune Hemolytic Anemia 59 0.070
259
PLS007 Plasmodium Falciparum Malaria 56 0.069
260
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 35 0.069
261
P MTC003 Metachromatic Leukodystrophy 71 0.069
262
MTC057 Mitochondrial Recessive Ataxia Syndrome 48 0.068
263
PLV005 Pelviureteric Junction Obstruction 43 0.068
264
P SPN202 Spinocerebellar Ataxia, X-Linked 1 26 0.068
265
WLS001 Wilson Disease 72 0.068
266
LPM004 Lipoma 59 0.068
267
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 26 0.068
268
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 28 0.067
269
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 23 0.067
270
c PLN017 Peeling Skin Syndrome 1 32 0.067
271
CRN036 Craniopharyngioma 54 0.067
272
ALB002 Albinism 43 0.067
273
c SPN094 Spinocerebellar Ataxia 18 34 0.067
274
BHR001 Behr Syndrome 43 0.067
275
P TYS001 Tay-Sachs Disease 72 0.066
276
CYS013 Cystinuria 63 0.066
277
P ENC011 Encephalomyopathy 35 0.066
278
P MTC004 Mitochondrial Encephalomyopathy 39 0.066
279
P SLL003 Salla Disease 44 0.066
280
DNT016 Dentatorubro-Pallidoluysian Atrophy 49 0.065
281
P CHR071 Charcot-Marie-Tooth Disease 66 0.065
282
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 24 0.065
283
IRN001 Iron Deficiency Anemia 51 0.064
284
TMP001 Temporal Lobe Epilepsy 47 0.064
285
P RTN024 Retinoblastoma 75 0.064
286
c HMP029 Hemophilia a 61 0.064
287
ADR007 Adrenoleukodystrophy 74 0.064
288
HLL004 Hellp Syndrome 48 0.064
289
HMR004 Hemorrhagic Fever with Renal Syndrome 52 0.063
290
ABL002 Ablepharon-Macrostomia Syndrome 51 0.063
291
LYS002 Lysosomal Storage Disease 51 0.063
292
INT075 Intracranial Hypertension 52 0.063
293
P FTL001 Fetal Alcohol Syndrome 53 0.063
294
P PSD015 Pseudohypoparathyroidism 43 0.062
295
P DNT011 Dentinogenesis Imperfecta 42 0.062
296
WLL001 Williams-Beuren Syndrome 61 0.061
297
OPS006 Opsoclonus-Myoclonus Syndrome 47 0.061
298
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 50 0.060
299
OCL011 Ocular Motility Disease 41 0.060
300
PRN023 Prion Disease 44 0.060
301
P XLN007 X-Linked Disease 34 0.059
302
HYP264 Hypertonia 39 0.059
303
ARG002 Argininosuccinic Aciduria 57 0.059
304
RST001 Restless Legs Syndrome 51 0.058
305
TXC005 Toxic Shock Syndrome 61 0.058
306
CRB085 Cerebral Hemorrhage 40 0.058
307
P BRD002 Bardet-Biedl Syndrome 64 0.058
308
MSC072 Muscle Cancer 47 0.058
309
CHR174 Christianson Syndrome 26 0.057
310
ADL030 Adult-Onset Still's Disease 57 0.057
311
P NPH005 Nephronophthisis 55 0.057
312
CLF027 Cleft Palate, Isolated 56 0.057
313
RHM015 Rhombencephalosynapsis 25 0.057
314
CNG048 Congenital Hepatic Fibrosis 47 0.057
315
ATS008 Autosomal Dominant Disease 41 0.057
316
P PLZ001 Pelizaeus-Merzbacher Disease 63 0.056
317
CRB150 Cerebral Creatine Deficiency Syndrome 2 47 0.056
318
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 20 0.056
319
APP008 Appendicitis 61 0.056
320
DNG002 Dengue Hemorrhagic Fever 60 0.056
321
AMB002 Amblyopia 42 0.055
322
c DYS119 Dystonia 9 39 0.055
323
P KRB001 Krabbe Disease 68 0.055
324
CHD001 Chediak-Higashi Syndrome 66 0.055
325
P MRD002 Marden-Walker Syndrome 39 0.055
326
PTN001 Patent Foramen Ovale 55 0.055
327
P PNT019 Pontocerebellar Hypoplasia 39 0.055
328
BCT002 Bacterial Vaginosis 53 0.055
329
PLR009 Pol Iii-Related Leukodystrophies 39 0.055
330
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 52 0.054
331
NRN008 Neuronal Intranuclear Inclusion Disease 41 0.054
332
c CWD006 Cowden Syndrome 1 43 0.054
333
c OST122 Osteogenesis Imperfecta, Type Iii 57 0.053
334
P CRB019 Cerebral Amyloid Angiopathy 56 0.053
335
ATH004 Athetosis 25 0.053
336
P JNC001 Junctional Epidermolysis Bullosa 52 0.053
337
CRN031 Cranial Nerve Disease 39 0.053
338
CLC006 Calcinosis 48 0.052
339
MGL013 Megalencephaly 50 0.052
340
ACR008 Acrocallosal Syndrome 51 0.052
341
BTN003 Biotinidase Deficiency 56 0.052
342
HNT002 Hantavirus Pulmonary Syndrome 51 0.052
343
CVT001 Cavitary Optic Disc Anomalies 25 0.052
344
P HLL001 Hallermann-Streiff Syndrome 53 0.052
345
P DRV001 Dravet Syndrome 66 0.052
346
DBT090 Diabetes and Deafness, Maternally Inherited 32 0.052
347
P CHN012 Chondrosarcoma 57 0.052
348
TXC011 Toxocariasis 36 0.051
349
c L2H001 L-2-Hydroxyglutaric Aciduria 42 0.051
350
P CWD001 Cowden Disease 63 0.051
351
P CNG024 Congenital Nystagmus 39 0.050
352
PRV004 Periventricular Leukomalacia 51 0.049
353
CYS039 Cystic Kidney Disease 49 0.049
354
c 3MT015 3-Methylglutaconic Aciduria, Type I 35 0.049
355
P RBL001 Rubella 54 0.049
356
MYH012 Myhre Syndrome 37 0.049
357
FRN002 Frontal Lobe Epilepsy 38 0.049
358
MST019 Mastoiditis 31 0.049
359
CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 35 0.048
360
MTR010 Mature Teratoma 41 0.048
361
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 15 0.048
362
MTC056 Mitochondrial Dna Depletion Syndrome 4a 45 0.048
363
SCR002 Scurvy 47 0.048
364
PNM003 Pneumatosis Cystoides Intestinalis 32 0.048
365
c MNN025 Mannosidosis, Alpha-, Types I and Ii 54 0.048
366
c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 26 0.047
367
c OST121 Osteogenesis Imperfecta, Type Iv 46 0.047
368
LRY047 Laryngeal Abductor Paralysis 23 0.047
369
P OCL013 Oculodentodigital Dysplasia 58 0.047
370
c NMN015 Niemann-Pick Disease, Type C1 63 0.047
371
c ACQ014 Acquired Hemophilia 42 0.047
372
NRL008 Neural Crest Tumor 24 0.047
373
ORM002 Oromandibular Dystonia 29 0.047
374
CRB159 Cerebral Visual Impairment 34 0.047
375
c CNG206 Congenital Disorder of Glycosylation, Type Ie 49 0.046
376
MRN001 Marantic Endocarditis 34 0.046
377
P LBR001 Leber Congenital Amaurosis 61 0.046
378
PRP028 Peripheral Vertigo 42 0.045
379
P BRC015 Bruck Syndrome 44 0.045
380
TRC003 Trichomoniasis 41 0.045
381
LMR001 Lemierre's Syndrome 43 0.045
382
RCH002 Richards-Rundle Syndrome 24 0.045
383
ESN004 Eosinophilic Gastritis 41 0.044
384
TST033 Testicular Regression Syndrome 28 0.044
385
c ACQ042 Acquired Hemophilia a 39 0.044
386
P OST028 Osteochondroma 45 0.043
387
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 23 0.043
388
c PRX043 Peroxisome Biogenesis Disorder 6b 28 0.043
389
ADN022 Adenylosuccinase Deficiency 35 0.043
390
CMP009 Complement Deficiency 39 0.042
391
SPN185 Spinal Cord Infarction 36 0.042
392
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 24 0.041
393
c LSS009 Lissencephaly 3 23 0.041
394
c TRN014 Transient Arthritis 36 0.041
395
DSN001 De Sanctis-Cacchione Syndrome 25 0.041
396
c ACQ005 Acquired Thrombocytopenia 35 0.041
397
P PTT002 Potter's Syndrome 42 0.040
398
ACR003 Acrodermatitis Enteropathica 49 0.040
399
ASC003 Ascending Cholangitis 28 0.040
400
c JBR026 Joubert Syndrome 15 25 0.039
401
MLT135 Multiple Sulfatase Deficiency 52 0.039
402
c SPS020 Spastic Paraplegia 1 21 0.039
403
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 23 0.039
404
LRN001 Laurence-Moon Syndrome 36 0.038
405
c OST132 Osteogenesis Imperfecta, Type Vi 37 0.038
406
SWT002 Sweat Gland Cancer 40 0.038
407
c PLZ002 Pelizaeus-Merzbacher-Like Disease 26 0.038
408
HYP659 Hypomyelinating Leukoencephalopathy 17 0.038
409
MLL018 Miller-Dieker Lissencephaly Syndrome 47 0.038
410
c PRR020 Perrault Syndrome 1 21 0.037
411
DVL005 Developmental Dyspraxia 17 0.037
412
HYP107 Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome 40 0.036
413
EPL143 Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions 27 0.036
414
c LSS006 Lissencephaly 2 35 0.034
415
P SLD010 Sialidosis, Type I 41 0.034
416
c CCK006 Cockayne Syndrome, Type B 37 0.034
417
BSL009 Basal Ganglia Calcification 41 0.033
418
c BSL038 Basal Ganglia Calcification, Idiopathic, 1 25 0.029