Search results for cerebellar ataxia with mental retardation

642 hits were found for cerebellar ataxia with mental retardation

# Family MCID Name MIFTS Score
1
P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 50 6.209
2
c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 19 4.359
3
c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 22 4.071
4
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 22 3.783
5
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 19 3.777
6
c GLL038 Galloway-Mowat Syndrome 1 37 3.400
7
c SPN311 Spinocerebellar Ataxia 13 42 3.189
8
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26 2.455
9
c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17 1.914
10
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.836
11
ACR006 Aceruloplasminemia 65 0.496
12
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.482
13
P ATS308 Autosomal Dominant Cerebellar Ataxia 47 0.379
14
NRN002 Neuronitis 43 0.324
15
P EPL164 Epilepsy 70 0.311
16
P ATX030 Ataxia-Telangiectasia 80 0.285
17
SPS057 Spasticity 41 0.279
18
CRB009 Cerebritis 41 0.269
19
AGN016 Aging 65 0.255
20
PSY004 Psychotic Disorder 72 0.254
21
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.253
22
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.245
23
P NRP001 Neuropathy 63 0.244
24
P CRB059 Cerebellar Degeneration 40 0.244
25
c BLD140 Blood Group, I System 37 0.243
26
P LKM002 Leukemia 75 0.243
27
P BRS047 Breast Cancer 100 0.240
28
P ANR048 Aniridia 1 68 0.240
29
P LYM118 Lymphoma 71 0.240
30
P SCH015 Schizophrenia 71 0.236
31
P HPT021 Hepatitis 75 0.236
32
RTN023 Retinitis 52 0.232
33
P TRM003 Tremor 54 0.231
34
P DBT009 Diabetes Mellitus 72 0.228
35
P FRD012 Friedreich Ataxia 1 58 0.222
36
P ENC018 Encephalopathy 58 0.221
37
P MCR010 Microcephaly 57 0.220
38
CRB045 Cerebellar Hypoplasia 48 0.214
39
ANR038 Anorexia Nervosa 1 21 0.210
40
BLD137 Blood Group--Ahonen 17 0.210
41
P ADN016 Adenocarcinoma 71 0.200
42
P ATS364 Autism 70 0.199
43
DMN002 Dementia 68 0.198
44
P LNG032 Lung Cancer 99 0.195
45
c BRN108 Branchiootic Syndrome 1 47 0.187
46
ANX010 Anxiety 72 0.186
47
P HYP265 Hypotonia 40 0.185
48
P HRT032 Heart Disease 80 0.184
49
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.183
50
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.183
51
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.183
52
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.183
53
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.183
54
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.183
55
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.183
56
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.183
57
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.183
58
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.183
59
P ART022 Arthritis 77 0.182
60
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.177
61
P CTR002 Cataract 60 0.177
62
CRB027 Cerebellar Disease 48 0.177
63
P THY032 Thyroiditis 56 0.177
64
P DYS154 Dystonia 61 0.171
65
HYP080 Hypogonadism 54 0.168
66
HRD026 Hereditary Ataxia 43 0.167
67
P CRV039 Cervicitis 49 0.167
68
P AST007 Astrocytoma 66 0.163
69
END072 Endotheliitis 46 0.161
70
P ALZ034 Alzheimer Disease 95 0.160
71
ALR002 Al-Raqad Syndrome 30 0.158
72
P MSC005 Muscular Dystrophy 66 0.157
73
MYC033 Myoclonus 40 0.156
74
P EPS003 Episodic Ataxia 57 0.156
75
PRP016 Paraplegia 53 0.155
76
P MYP004 Myopathy 69 0.153
77
P NRV007 Nervous System Disease 75 0.153
78
P MLT020 Multiple Sclerosis 85 0.150
79
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.150
80
P PNC044 Pancreatitis 64 0.147
81
PRS047 Prostatitis 59 0.145
82
ANR040 Aneurysm 61 0.143
83
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.143
84
P RHM011 Rheumatoid Arthritis 91 0.140
85
P LVR013 Liver Disease 76 0.140
86
APR001 Apraxia 52 0.140
87
MLT157 Multiple System Atrophy 1 65 0.139
88
ISC004 Ischemia 66 0.139
89
P BPL003 Bipolar Disorder 61 0.139
90
P HYD006 Hydrocephalus 68 0.139
91
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.139
92
c ATS307 Autosomal Recessive Cerebellar Ataxia 27 0.137
93
SPS003 Spastic Diplegia 55 0.137
94
P LPS004 Lupus Erythematosus 69 0.136
95
MLN008 Melanoma 72 0.136
96
ART140 Arteries, Anomalies of 51 0.135
97
P HYP086 Hypothyroidism 62 0.135
98
P CLR023 Colorectal Cancer 98 0.134
99
HPT082 Hepatic Adenomas, Familial 52 0.133
100
P MYC007 Myocardial Infarction 81 0.132
101
P KDN018 Kidney Disease 69 0.132
102
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.132
103
CRB037 Cerebral Palsy 70 0.132
104
MDD011 Mood Disorder 64 0.132
105
c HPT001 Hepatitis C 73 0.131
106
THR024 Thrombosis 61 0.131
107
INS024 Insulin-Like Growth Factor I 83 0.131
108
P ENC004 Encephalitis 66 0.130
109
P GLM045 Glioma 61 0.130
110
c CNT035 Central Nervous System Disease 65 0.129
111
c SYS001 Systemic Lupus Erythematosus 86 0.129
112
P PRS040 Prostate Cancer 88 0.128
113
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.126
114
MGR028 Migraine with or Without Aura 1 55 0.126
115
P FRG001 Fragile X Syndrome 69 0.126
116
P ESP024 Esophagitis 64 0.126
117
P RTN008 Retinitis Pigmentosa 81 0.126
118
P MNN013 Meningitis 71 0.125
119
FRG008 Fragile X-Associated Tremor/ataxia Syndrome 41 0.125
120
ATM095 Autoimmune Disease 66 0.125
121
P MJR001 Major Depressive Disorder 70 0.125
122
c EPS035 Episodic Ataxia, Type 2 54 0.124
123
P OVR042 Ovarian Cancer 82 0.121
124
P ATS366 Autism X-Linked 2 34 0.121
125
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.121
126
P LYM026 Lymphoblastic Leukemia 66 0.120
127
P INT068 Intestinal Disease 65 0.118
128
SNS001 Sensorineural Hearing Loss 59 0.117
129
VSC007 Vascular Disease 71 0.117
130
P PNM007 Pneumonia 70 0.117
131
MLR004 Malaria 86 0.117
132
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 46 0.115
133
GLL028 Gillespie Syndrome 33 0.114
134
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 60 0.114
135
P PTS002 Ptosis 50 0.114
136
SLP005 Sleep Disorder 59 0.114
137
P PLY019 Polyneuropathy 58 0.113
138
P DRR001 Diarrhea 60 0.112
139
c LBR014 Leber Congenital Amaurosis 4 48 0.112
140
P ALP008 Alopecia 56 0.112
141
CLF001 Cleft Lip 54 0.109
142
P ICH004 Ichthyosis 54 0.109
143
P SPS008 Spastic Ataxia 32 0.109
144
ALP046 Alport Syndrome, X-Linked 74 0.109
145
P THR014 Thrombocytopenia 65 0.108
146
DWN001 Down Syndrome 70 0.108
147
c ATS007 Autism Spectrum Disorder 68 0.106
148
P SCL018 Scoliosis 56 0.105
149
BRN071 Brain Injury 54 0.103
150
P RTN016 Retinal Degeneration 56 0.103
151
ADN018 Adenoma 63 0.102
152
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.102
153
c HRD010 Hereditary Spastic Paraplegia 68 0.101
154
MVM001 Movement Disease 40 0.101
155
LRN003 Learning Disability 49 0.100
156
CLB010 Coloboma of Macula 52 0.100
157
P BRC006 Brachydactyly 57 0.100
158
P OST002 Osteoporosis 75 0.100
159
DRM006 Dermatitis 67 0.100
160
P INF032 Infertility 59 0.100
161
CHR008 Choroiditis 47 0.099
162
P RTT002 Rett Syndrome 82 0.098
163
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.098
164
SPS019 Spastic Paraparesis 33 0.098
165
LTH045 Lutheran Suppressor, X-Linked 41 0.098
166
P JBR020 Joubert Syndrome 1 68 0.098
167
P HMP006 Hemiplegic Migraine 49 0.098
168
P INF038 Influenza 77 0.098
169
HYP730 Hypogonadotropic Hypogonadism 56 0.097
170
P AMY004 Amyloidosis 69 0.096
171
P ANG001 Angelman Syndrome 61 0.096
172
DYS073 Dysphagia 47 0.096
173
c ESS001 Essential Tremor 58 0.096
174
P PLY006 Polydactyly 57 0.095
175
GRW007 Growth Hormone Deficiency 52 0.095
176
P OLV001 Olivopontocerebellar Atrophy 51 0.094
177
MTC054 Mitochondrial Dna Depletion Syndrome 7 41 0.094
178
MYL009 Myelodysplastic Syndrome 75 0.094
179
GNG013 Gingivitis 64 0.094
180
MSC165 Muscular Dystrophy, Congenital, Lmna-Related 59 0.093
181
P LTR001 Lateral Sclerosis 58 0.093
182
c SPN101 Spinocerebellar Ataxia 29 31 0.093
183
HDC001 Headache 55 0.092
184
P MSC003 Muscular Atrophy 55 0.091
185
CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 24 0.091
186
CRT072 Creutzfeldt-Jakob Disease 65 0.091
187
P TBR001 Tuberous Sclerosis 69 0.091
188
P MRN003 Marinesco-Sjogren Syndrome 38 0.090
189
P MYP006 Myopia 56 0.089
190
P PRD006 Prader-Willi Syndrome 66 0.089
191
MTC069 Mitochondrial Disorders 49 0.089
192
P DBT005 Diabetes Insipidus 54 0.089
193
STR020 Strabismus 55 0.089
194
CRH001 Crohn's Disease 80 0.089
195
BNM029 Bone Mineral Density Quantitative Trait Locus 15 39 0.089
196
c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31 0.088
197
BSL008 Basal Ganglia Disease 44 0.088
198
BNM022 Bone Mineral Density Quantitative Trait Locus 8 32 0.088
199
SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 45 0.088
200
c SPN100 Spinocerebellar Ataxia 27 44 0.087
201
ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 34 0.087
202
HYP064 Hypogonadotropism 38 0.087
203
PNC001 Pancytopenia 50 0.087
204
P LSS002 Lissencephaly 49 0.087
205
P NJM001 Nijmegen Breakage Syndrome 69 0.087
206
DNT005 Dentatorubral-Pallidoluysian Atrophy 50 0.086
207
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 33 0.085
208
DWR001 Dwarfism 48 0.085
209
c SPN096 Spinocerebellar Ataxia 21 30 0.084
210
P HRP006 Herpes Simplex 70 0.084
211
P MYC026 Myoclonus Epilepsy 35 0.084
212
HMP005 Hemiplegia 54 0.084
213
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.083
214
c FML023 Familial Hemiplegic Migraine 51 0.083
215
P PRD008 Periodontitis 67 0.082
216
MCR013 Microphthalmia 61 0.082
217
ECT006 Ectodermal Dysplasia 57 0.082
218
P CRN037 Craniosynostosis 68 0.082
219
TRM010 Traumatic Brain Injury 54 0.082
220
WLL001 Williams-Beuren Syndrome 63 0.081
221
MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 29 0.081
222
LKD001 Leukodystrophy 57 0.080
223
c PRM196 Premature Ovarian Failure 1 68 0.080
224
CHR073 Choreatic Disease 40 0.080
225
MCS002 Mucositis 61 0.080
226
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 25 0.080
227
ATN005 Autonomic Dysfunction 51 0.079
228
BLP004 Blepharophimosis 34 0.079
229
P HMN010 Hemangioma 61 0.079
230
EPD016 Epidermolysis Bullosa 57 0.079
231
CCH002 Coach Syndrome 51 0.079
232
c CNG006 Congenital Hypothyroidism 62 0.078
233
CHR619 Chromosome 2q35 Duplication Syndrome 62 0.078
234
P LCT001 Lactic Acidosis 51 0.078
235
c WLM011 Wilms Tumor 6 44 0.078
236
c 3MT014 3-Methylglutaconic Aciduria, Type V 40 0.078
237
CRB011 Cerebrotendinous Xanthomatosis 64 0.078
238
P DLT002 Dilated Cardiomyopathy 76 0.078
239
c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 47 0.077
240
CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 19 0.077
241
HYP077 Hypertrichosis 49 0.076
242
HMN044 Human Immunodeficiency Virus Type 1 71 0.076
243
P RNG031 Ring Chromosome Y Syndrome 29 0.076
244
AMN006 Aminoaciduria 41 0.076
245
P FNC043 Fanconi Anemia, Complementation Group E 52 0.076
246
FRG010 Fragile X Tremor/ataxia Syndrome 34 0.076
247
P HYP024 Hypoparathyroidism 55 0.075
248
APH002 Aphasia 58 0.075
249
MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 30 0.075
250
WDH003 Woodhouse-Sakati Syndrome 47 0.075
251
P GRV001 Graves' Disease 62 0.075
252
HYP748 Hypertelorism 46 0.074
253
BCK006 Back Pain 46 0.074
254
c BRT038 Baraitser-Winter Syndrome 1 37 0.074
255
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 23 0.074
256
STF001 Stiff-Person Syndrome 61 0.074
257
P PRC019 Precocious Puberty 52 0.074
258
P LYM025 Lymphedema 63 0.074
259
ARC002 Arachnoiditis 45 0.073
260
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24 0.073
261
DYS018 Dysostosis 48 0.073
262
FCL014 Focal Epilepsy 56 0.073
263
HDN002 Head Injury 48 0.072
264
GRW036 Growth Control, Y-Chromosome Influenced 33 0.072
265
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29 0.072
266
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27 0.072
267
P HYP040 Hypospadias 60 0.072
268
P SPN046 Spinal Muscular Atrophy 63 0.072
269
P ALC004 Alcohol Abuse 63 0.071
270
c WLM018 Wilms Tumor 5 49 0.071
271
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 56 0.071
272
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54 0.071
273
c ATX040 Ataxia-Telangiectasia-Like Disorder 1 41 0.071
274
TTH006 Tooth Disease 54 0.071
275
P TCL004 T-Cell Leukemia 50 0.071
276
BLD163 Blood Group, Dombrock System 23 0.070
277
CHR078 Chorioretinitis 41 0.070
278
P HYP061 Hypertrophic Cardiomyopathy 65 0.070
279
P RSP003 Respiratory Failure 71 0.070
280
FRN006 Frontotemporal Dementia 70 0.070
281
P END044 Endometriosis 71 0.070
282
TRG002 Trigeminal Neuralgia 60 0.070
283
c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 36 0.070
284
P MYT002 Myotonic Dystrophy 50 0.070
285
ADP007 Adie Pupil 41 0.069
286
TMP001 Temporal Lobe Epilepsy 54 0.069
287
HSH003 Hashimoto Thyroiditis 67 0.069
288
RST001 Restless Legs Syndrome 54 0.069
289
PLY024 Polymicrogyria 36 0.069
290
P ENC011 Encephalomyopathy 40 0.069
291
P TRN020 Turner Syndrome 69 0.069
292
DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 38 0.068
293
P MCP040 Mucopolysaccharidosis-Plus Syndrome 61 0.068
294
HYP066 Hyperglycemia 64 0.068
295
SPC005 Speech Disorder 44 0.068
296
VSL002 Visual Epilepsy 27 0.067
297
DND001 Dandy-Walker Syndrome 41 0.067
298
CLF004 Cleft Lip/palate 49 0.067
299
MSC033 Muscle Disorders 53 0.067
300
P ENC008 Encephalocele 48 0.067
301
BHR001 Behr Syndrome 36 0.067
302
SYN005 Synostosis 50 0.067
303
PST036 Posterior Column Ataxia with Retinitis Pigmentosa 31 0.066
304
MSC004 Muscle Tissue Disease 39 0.066
305
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 32 0.066
306
ARC007 Arachnoid Cysts 39 0.066
307
BRT054 Brittle Bone Disorder 67 0.066
308
P CHR071 Charcot-Marie-Tooth Disease 67 0.066
309
P HNT016 Huntington Disease 78 0.066
310
XNT003 Xanthomatosis 53 0.066
311
c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27 0.066
312
BNF002 Bone Fracture 56 0.066
313
P UVT001 Uveitis 61 0.065
314
DMY004 Demyelinating Disease 58 0.065
315
FBR019 Fibromatosis 47 0.065
316
CHR174 Christianson Syndrome 39 0.065
317
LMB024 Limbic Encephalitis 42 0.065
318
P RHB003 Rhabdomyosarcoma 61 0.065
319
RCH002 Richards-Rundle Syndrome 30 0.065
320
OBS004 Obstructive Hydrocephalus 37 0.065
321
P HYP083 Hypopituitarism 59 0.065
322
c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67 0.065
323
c CWD006 Cowden Syndrome 1 54 0.065
324
SWL001 Swallowing Disorders 36 0.065
325
P GND004 Gonadal Dysgenesis 50 0.065
326
HYP060 Hyperinsulinism 56 0.064
327
P SLL003 Salla Disease 43 0.064
328
P GRM010 Germ Cells Tumors 37 0.064
329
ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 16 0.064
330
P SJG008 Sjogren Syndrome 58 0.064
331
MGL033 Megalocornea-Mental Retardation Syndrome 28 0.064
332
INF129 Infantile Cerebellar-Retinal Degeneration 36 0.064
333
SND001 Sandhoff Disease 65 0.064
334
P HRD009 Hereditary Wilms' Tumor 46 0.064
335
P CNG411 Congenital Disorder of Glycosylation, Type in 55 0.064
336
P CRB088 Cerebral Atrophy 38 0.063
337
c MNN047 Mannosidosis, Alpha B, Lysosomal 63 0.063
338
VTM002 Vitamin B12 Deficiency 46 0.063
339
QDR001 Quadriplegia 54 0.063
340
HYP264 Hypertonia 32 0.063
341
P SHR029 Short Syndrome 54 0.063
342
ACR008 Acrocallosal Syndrome 56 0.062
343
EST005 Esotropia 43 0.062
344
SCK003 Sickle Cell Anemia 73 0.062
345
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 20 0.062
346
AMN001 Amenorrhea 55 0.062
347
P TYS001 Tay-Sachs Disease 71 0.062
348
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37 0.062
349
GTR002 Goiter 53 0.062
350
NRS003 Neurosyphilis 44 0.062
351
P NRN021 Neuronal Ceroid Lipofuscinosis 62 0.061
352
ADR007 Adrenoleukodystrophy 72 0.061
353
P HMF004 Hemifacial Spasm 41 0.061
354
PRN023 Prion Disease 51 0.061
355
P RTN024 Retinoblastoma 76 0.061
356
ALB002 Albinism 45 0.061
357
CFF002 Coffin-Lowry Syndrome 58 0.061
358
LGH007 Leigh Syndrome 68 0.061
359
CHR103 Charge Syndrome 59 0.061
360
BCH003 Boucher-Neuhauser Syndrome 29 0.061
361
c MNT295 Mental Retardation, X-Linked, Syndromic 33 25 0.060
362
BDY001 Body Dysmorphic Disorder 43 0.060
363
P XRD010 Xeroderma Pigmentosum, Variant Type 62 0.060
364
IRN001 Iron Deficiency Anemia 55 0.060
365
CYT008 Cytomegalovirus Infection 57 0.060
366
c MGL009 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 40 0.060
367
c MNT270 Mental Retardation, Autosomal Recessive 53 23 0.060
368
FCL022 Focal Dystonia 47 0.060
369
PSR001 Psoriatic Arthritis 66 0.059
370
P DYS021 Dysautonomia 47 0.059
371
P ORT004 Orthostatic Intolerance 68 0.059
372
P MTC003 Metachromatic Leukodystrophy 72 0.059
373
P SLV001 Silver-Russell Syndrome 57 0.059
374
BTN003 Biotinidase Deficiency 56 0.059
375
PCH002 Pachygyria 38 0.059
376
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 31 0.059
377
P CRN015 Cornelia De Lange Syndrome 65 0.059
378
DFC004 Deficiency Anemia 62 0.058
379
P PSD015 Pseudohypoparathyroidism 50 0.058
380
CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 42 0.058
381
P TXP001 Toxoplasmosis 65 0.058
382
c MGR032 Migraine, Familial Hemiplegic, 1 32 0.058
383
MYH012 Myhre Syndrome 41 0.058
384
P RNL007 Renal Tubular Acidosis 51 0.058
385
GLL008 Gilles De La Tourette Syndrome 64 0.058
386
OPH015 Ophn1 Syndrome 23 0.058
387
c PRG011 Progressive Myoclonus Epilepsy 40 0.058
388
MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 20 0.058
389
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.058
390
MTC004 Mitochondrial Encephalomyopathy 42 0.058
391
CYS013 Cystinuria 64 0.057
392
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30 0.057
393
P FML011 Familial Adenomatous Polyposis 71 0.057
394
P CCK001 Cockayne Syndrome 64 0.057
395
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 25 0.057
396
STH001 Saethre-Chotzen Syndrome 64 0.056
397
CRT012 Cortical Blindness 34 0.056
398
P MGL013 Megalencephaly 54 0.056
399
CRN025 Corneal Dystrophy 42 0.056
400
ATN004 Autonomic Neuropathy 46 0.056
401
c MNT296 Mental Retardation, X-Linked, Syndromic 34 25 0.056
402
SMT008 Smith-Magenis Syndrome 54 0.056
403
PLY117 Polymicrogyria, Bilateral Frontoparietal 30 0.056
404
P HRD018 Hair Disease 53 0.056
405
MTB004 Metabolic Acidosis 49 0.056
406
WBR001 Weber Syndrome 40 0.055
407
CRN036 Craniopharyngioma 63 0.055
408
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 60 0.055
409
P FTL001 Fetal Alcohol Syndrome 59 0.054
410
P NPH005 Nephronophthisis 57 0.054
411
CRP032 Corpus Callosum, Agenesis of 40 0.054
412
CHD001 Chediak-Higashi Syndrome 67 0.054
413
LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 27 0.054
414
ADN022 Adenylosuccinase Deficiency 37 0.054
415
c MNT298 Mental Retardation, X-Linked, Syndromic, 35 23 0.054
416
MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 39 0.054
417
MBS002 Moebius Syndrome 53 0.054
418
c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24 0.054
419
SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 20 0.054
420
MYX004 Myxedema 44 0.054
421
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 38 0.054
422
P LSS036 Lissencephaly, X-Linked, 1 45 0.054
423
CNR004 Cone-Rod Dystrophy 2 69 0.054
424
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 21 0.053
425
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 35 0.053
426
DYS164 Dyskeratosis Congenita, X-Linked 40 0.053
427
c JBR031 Joubert Syndrome 21 24 0.053
428
P FCL005 Focal Segmental Glomerulosclerosis 60 0.053
429
c 3MT015 3-Methylglutaconic Aciduria, Type I 44 0.052
430
ALL001 Allan-Herndon-Dudley Syndrome 49 0.052
431
P HRD021 Hereditary Sensory Neuropathy 47 0.052
432
P THR117 Three M Syndrome 1 52 0.052
433
MNK001 Menkes Disease 64 0.052
434
PFF001 Pfeiffer Syndrome 74 0.052
435
c CNG415 Congenital Disorder of Glycosylation, Type Ia 53 0.052
436
P PLZ001 Pelizaeus-Merzbacher Disease 68 0.052
437
P HYP087 Hypotrichosis 48 0.051
438
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 38 0.051
439
ATH004 Athetosis 24 0.051
440
RHM015 Rhombencephalosynapsis 28 0.051
441
P RBL001 Rubella 61 0.051
442
CHN065 Choanal Atresia, Posterior 43 0.051
443
NPH003 Nephrocalcinosis 49 0.051
444
HNT002 Hantavirus Pulmonary Syndrome 57 0.051
445
P PRG013 Paraganglioma 57 0.051
446
P PNT019 Pontocerebellar Hypoplasia 41 0.050
447
P KRB001 Krabbe Disease 70 0.050
448
MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 20 0.050
449
WLK001 Walker-Warburg Syndrome 59 0.050
450
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.050
451
P MRD002 Marden-Walker Syndrome 47 0.050
452
c CHR095 Chronic Progressive External Ophthalmoplegia 44 0.050
453
c JBR015 Joubert Syndrome 6 21 0.050
454
c JBR004 Joubert Syndrome 2 28 0.050
455
CRN264 Craniosynostosis with Fibular Aplasia 29 0.050
456
P MCL013 Mucolipidosis Iv 67 0.049
457
P FNG006 Feingold Syndrome 1 44 0.049
458
AMB002 Amblyopia 45 0.049
459
ATS010 Autosomal Recessive Disease 40 0.049
460
P SPS133 Spastic Paraplegia 2, X-Linked 41 0.049
461
c JBR026 Joubert Syndrome 15 21 0.049
462
c LKD019 Leukodystrophy, Hypomyelinating, 6 42 0.049
463
WLF002 Wolf-Hirschhorn Syndrome 54 0.048
464
PRG123 Progeroid Syndrome, Neonatal 30 0.048
465
KLP010 Klippel-Trenaunay-Weber Syndrome 60 0.048
466
P GNG025 Gingival Fibromatosis 50 0.048
467
ACH022 Achalasia-Addisonianism-Alacrima Syndrome 50 0.048
468
HMF006 Hemifacial Microsomia 58 0.048
469
P KLL001 Kallmann Syndrome 63 0.048
470
VCS001 Vici Syndrome 46 0.048
471
P CMM008 Communicating Hydrocephalus 35 0.048
472
c CNG124 Congenital Rubella 47 0.048
473
P BLD124 Bleeding Disorder, Platelet-Type, 11 38 0.048
474
RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 21 0.048
475
GNT031 Genitopatellar Syndrome 43 0.047
476
PRG023 Progeroid Short Stature with Pigmented Nevi 32 0.047
477
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38 0.047
478
c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 36 0.047
479
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 44 0.047
480
CNV002 Conversion Disorder 42 0.047
481
P CMR001 Camurati-Engelmann Disease 62 0.047
482
MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 21 0.047
483
RNL078 Renal Dysplasia 49 0.047
484
c TRC091 Trichorhinophalangeal Syndrome, Type Ii 53 0.047
485
MGL027 Megalocornea-Intellectual Disability Syndrome 22 0.047
486
c JBR012 Joubert Syndrome 5 25 0.047
487
P KLP003 Klippel-Feil Syndrome 46 0.047
488
P MLG056 Malignant Hyperthermia 60 0.046
489
ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 51 0.046
490
PNN005 Panencephalitis, Subacute Sclerosing 44 0.046
491
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 57 0.046
492
MLT135 Multiple Sulfatase Deficiency 54 0.046
493
c CCK007 Cockayne Syndrome B 52 0.046
494
LRN001 Laurence-Moon Syndrome 46 0.046
495
P MNN019 Mannosidosis, Beta a, Lysosomal 52 0.046
496
LCK001 Locked-in Syndrome 47 0.046
497
KHL003 Kohlschutter-Tonz Syndrome 37 0.046
498
P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 25 0.046
499
c PRX043 Peroxisome Biogenesis Disorder 6b 20 0.046
500
PND002 Pendred Syndrome 55 0.045
501
c BRD013 Bardet-Biedl Syndrome 12 55 0.045
502
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 35 0.045
503
GPS001 Gapo Syndrome 36 0.045
504
P NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 57 0.045
505
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 17 0.045
506
c JBR041 Joubert Syndrome 3 24 0.045
507
MTC056 Mitochondrial Dna Depletion Syndrome 4a 49 0.045
508
RBR001 Roberts Syndrome 55 0.045
509
HYP005 Hypokalemia 53 0.045
510
c LSS009 Lissencephaly 3 22 0.045
511
c BSL038 Basal Ganglia Calcification, Idiopathic, 1 47 0.045
512
DBR002 De Barsy Syndrome 38 0.045
513
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 48 0.045
514
c CNG021 Congenital Toxoplasmosis 57 0.045
515
CTY001 Cat Eye Syndrome 49 0.045
516
c CNG206 Congenital Disorder of Glycosylation, Type Ie 40 0.045
517
STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26 0.044
518
SPL040 Split Hand 34 0.044
519
ARM010 Arima Syndrome 26 0.044
520
P CHN044 Chondrodysplasia Punctata Syndrome 43 0.044
521
EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 24 0.044
522
NVS017 Nevus, Epidermal 66 0.043
523
c LSS005 Lissencephaly 1 46 0.043
524
c SPS116 Spastic Paraplegia 26, Autosomal Recessive 37 0.043
525
P OST028 Osteochondroma 51 0.043
526
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47 0.043
527
c MCP049 Mucopolysaccharidosis, Type Vii 64 0.043
528
CHR178 Chromosomal Triplication 35 0.043
529
BHR002 Bohring-Opitz Syndrome 39 0.043
530
P LBR001 Leber Congenital Amaurosis 65 0.043
531
c JBR011 Joubert Syndrome 7 23 0.042
532
c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 44 0.042
533
BNG086 Bangstad Syndrome 21 0.042
534
DBT087 Diabetes Insipidus, Neurohypophyseal 62 0.042
535
c WLF013 Wolfram Syndrome 1 52 0.042
536
P CNG048 Congenital Hepatic Fibrosis 41 0.042
537
c RNG018 Ring Chromosome 22 32 0.042
538
PLY115 Polyendocrine-Polyneuropathy Syndrome 21 0.042
539
CLB026 Colobomatous Microphthalmia 31 0.042
540
DND005 Dandy-Walker Complex 33 0.042
541
P CNG024 Congenital Nystagmus 40 0.042
542
P ANX007 Anauxetic Dysplasia 1 36 0.042
543
CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 29 0.042
544
ABL002 Ablepharon-Macrostomia Syndrome 55 0.042
545
c MGR030 Migraine, Familial Hemiplegic, 2 32 0.041
546
P AML002 Amelogenesis Imperfecta 46 0.041
547
SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 18 0.041
548
DSN001 De Sanctis-Cacchione Syndrome 28 0.041
549
P RDL002 Radioulnar Synostosis 46 0.041
550
MLL018 Miller-Dieker Lissencephaly Syndrome 47 0.041
551
SPL039 Split Foot 30 0.041
552
c XRD031 Xeroderma Pigmentosum, Complementation Group F 53 0.041
553
KDS001 Kid Syndrome 44 0.041
554
ACR025 Acrocephalopolydactylous Dysplasia 33 0.041
555
RNL025 Renal Hypoplasia 37 0.040
556
NRN016 Neuronal Migration Disorders 42 0.040
557
VST004 Vestibular Disease 45 0.040
558
INC021 Incontinentia Pigmenti 57 0.039
559
c PNT045 Pontocerebellar Hypoplasia, Type 1a 31 0.039
560
c PRR020 Perrault Syndrome 1 24 0.039
561
MCP033 Mucopolysaccharidoses 36 0.039
562
c JBR016 Joubert Syndrome 10 20 0.039
563
SKN023 Skin Tag 41 0.039
564
LRN002 Laron Syndrome 63 0.039
565
P TWN003 Townes-Brocks Syndrome 57 0.039
566
BRW009 Brown-Vialetto-Van Laere Syndrome 1 31 0.039
567
TKN001 Takenouchi-Kosaki Syndrome 30 0.039
568
P SCH018 Schizencephaly 53 0.039
569
LRY047 Laryngeal Abductor Paralysis 24 0.038
570
c JBR013 Joubert Syndrome 8 20 0.038
571
P 3MT007 3-Methylglutaconic Aciduria 38 0.038
572
c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 21 0.037
573
c ART061 Arthrogryposis, Distal, Type 2a 45 0.037
574
CNG065 Congenital Contractures 27 0.037
575
c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 37 0.037
576
CHL109 Childhood Apraxia of Speech 31 0.037
577
c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 39 0.037
578
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 38 0.037
579
c XRD032 Xeroderma Pigmentosum, Complementation Group B 52 0.037
580
FBR011 Fibrodysplasia Ossificans Progressiva 64 0.037
581
PNT009 Pontine Tegmental Cap Dysplasia 29 0.037
582
P SPL061 Split Hand-Foot Malformation 41 0.037
583
c RNG022 Ring Chromosome 6 29 0.036
584
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 31 0.036
585
MNK003 Muenke Syndrome 60 0.036
586
c DFN036 Deafness, X-Linked 2 36 0.036
587
MCR018 Microcytic Anemia 43 0.036
588
c LKD009 Leukodystrophy, Hypomyelinating, 5 38 0.036
589
P LRS001 Larsen Syndrome 47 0.035
590
BSL009 Basal Ganglia Calcification 39 0.035
591
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 48 0.035
592
c JBR021 Joubert Syndrome 18 20 0.035
593
P DNT011 Dentinogenesis Imperfecta 47 0.035
594
MCR064 Microcephaly, Seizures, and Developmental Delay 22 0.035
595
CYC010 Cyclic Neutropenia 52 0.035
596
PRL019 Prolidase Deficiency 41 0.035
597
CMB021 Combined Pituitary Hormone Deficiency 37 0.035
598
CLR029 Clark-Baraitser Syndrome 24 0.035
599
BLL001 Baller-Gerold Syndrome 51 0.035
600
MLR020 Malaria, Mild 23 0.034
601
c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 37 0.034
602
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 47 0.034
603
TLC001 Telecanthus 28 0.034
604
OST022 Osteopathia Striata with Cranial Sclerosis 49 0.034
605
P CLB034 Coloboma, Ocular, Autosomal Dominant 47 0.034
606
P SPL050 Split Hand-Split Foot Malformation 37 0.034
607
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33 0.033
608
PRP028 Peripheral Vertigo 37 0.033
609
KTL001 Keutel Syndrome 39 0.033
610
c CRN278 Craniosynostosis 1 41 0.033
611
MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 31 0.033
612
PBL004 Piebald Trait with Neurologic Defects 18 0.033
613
HYP780 Hypoadrenocorticism, Familial 59 0.033
614
JHN004 Johnson Neuroectodermal Syndrome 30 0.032
615
HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 39 0.032
616
UVL008 Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 18 0.032
617
INF159 Infantile Sialic Acid Storage Disease 33 0.032
618
TST033 Testicular Regression Syndrome 32 0.032
619
c STR085 Striatonigral Degeneration, Infantile 27 0.032
620
CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 26 0.031
621
SHR105 Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay 17 0.031
622
GMB001 Gombo Syndrome 18 0.030
623
CLS005 Clouston Syndrome 54 0.030
624
PSD026 Pseudoainhum 26 0.030
625
KNC002 Knuckle Pads 33 0.030
626
c ORF037 Orofaciodigital Syndrome I 51 0.030
627
c LSS006 Lissencephaly 2 31 0.030
628
c JBR014 Joubert Syndrome 9 19 0.030
629
P PLT008 Pili Torti 29 0.029
630
c CLD019 Cleidocranial Dysplasia Spectrum Disorder 17 0.029
631
AXN011 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 18 0.029
632
NNT004 Neonatal Respiratory Failure 33 0.029
633
HMF009 Hemifacial Hyperplasia 26 0.028
634
ERM001 Ermine Phenotype 20 0.027
635
KNC004 Knuckle Pads, Leukonychia, and Sensorineural Deafness 40 0.026
636
BJR001 Bjornstad Syndrome 32 0.026
637
c MLG036 Malignant Spiradenoma 31 0.026
638
c ANR047 Aniridia 2 28 0.026
639
c DFN141 Deafness, Autosomal Recessive 12 44 0.026
640
c DFN121 Deafness, Autosomal Recessive 28 32 0.026
641
CHR383 Chromosome 1p32-P31 Deletion Syndrome 13 0.026
642
c DFN114 Deafness, Autosomal Recessive 67 35 0.026
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