Search results for optic atrophy and deafness

391 hits were found for optic atrophy and deafness

# Family MCID Name MIFTS Score
1
MHR001 Mohr-Tranebjaerg Syndrome 39 5.504
2
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 37 4.836
3
c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 40 4.318
4
c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 24 4.079
5
P WLF004 Wolfram Syndrome 61 4.023
6
ART002 Arts Syndrome 41 4.009
7
c WLF013 Wolfram Syndrome 1 52 2.865
8
WLF014 Wolfram Syndrome, Mitochondrial Form 15 1.638
9
MNT308 Mental Retardation with Optic Atrophy, Deafness, and Seizures 19 1.599
10
FRD011 Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 9 1.599
11
OPT022 Optic Atrophy 1 and Deafness 3 1.590
12
SVR060 Severe X-Linked Intellectual Disability, Gustavson Type 8 1.580
13
c BRN108 Branchiootic Syndrome 1 47 0.521
14
P NRP001 Neuropathy 63 0.504
15
RTN023 Retinitis 52 0.414
16
CRB009 Cerebritis 41 0.323
17
AGN016 Aging 65 0.316
18
NRT004 Neuritis 55 0.290
19
NRN002 Neuronitis 43 0.270
20
c BLD140 Blood Group, I System 37 0.269
21
P DBT009 Diabetes Mellitus 72 0.268
22
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.266
23
P ANR048 Aniridia 1 68 0.257
24
P MLT020 Multiple Sclerosis 85 0.255
25
ANR038 Anorexia Nervosa 1 21 0.242
26
BLD137 Blood Group--Ahonen 17 0.242
27
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.237
28
P BRS047 Breast Cancer 100 0.230
29
CHR008 Choroiditis 47 0.224
30
END072 Endotheliitis 46 0.220
31
P HPT021 Hepatitis 75 0.217
32
SNS001 Sensorineural Hearing Loss 59 0.210
33
P LKM002 Leukemia 75 0.210
34
P ENC018 Encephalopathy 58 0.210
35
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.209
36
DMN002 Dementia 68 0.206
37
P LYM118 Lymphoma 71 0.197
38
P ALZ034 Alzheimer Disease 95 0.197
39
P CTR002 Cataract 60 0.196
40
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.195
41
LBR002 Leber Hereditary Optic Neuropathy 57 0.190
42
P ADN016 Adenocarcinoma 71 0.190
43
P THY032 Thyroiditis 56 0.189
44
P EPL164 Epilepsy 70 0.188
45
SQM006 Squamous Cell Carcinoma 74 0.184
46
HPT082 Hepatic Adenomas, Familial 52 0.184
47
P MYP006 Myopia 56 0.184
48
NRM005 Neuromuscular Disease 60 0.176
49
P NRV007 Nervous System Disease 75 0.174
50
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.173
51
c MCL042 Macular Degeneration, Age-Related, 1 79 0.171
52
P HRT032 Heart Disease 80 0.171
53
P ART022 Arthritis 77 0.171
54
P RTN016 Retinal Degeneration 56 0.165
55
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.165
56
VSC007 Vascular Disease 71 0.162
57
KRT019 Keratitis, Hereditary 62 0.162
58
RTN018 Retinal Disease 56 0.162
59
P MYP004 Myopathy 69 0.161
60
ART140 Arteries, Anomalies of 51 0.159
61
SPS057 Spasticity 41 0.157
62
P DYS154 Dystonia 61 0.156
63
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.150
64
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.149
65
P CRV039 Cervicitis 49 0.149
66
P RTN008 Retinitis Pigmentosa 81 0.147
67
c MNN043 Meningioma, Familial 69 0.145
68
c OPT053 Optic Atrophy 1 45 0.145
69
ALR002 Al-Raqad Syndrome 30 0.145
70
SKN016 Skin Disease 68 0.145
71
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.142
72
P LPS004 Lupus Erythematosus 69 0.138
73
P DBT005 Diabetes Insipidus 54 0.138
74
AST005 Asthma 83 0.138
75
CLB010 Coloboma of Macula 52 0.138
76
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.137
77
c CNT035 Central Nervous System Disease 65 0.134
78
P MNN013 Meningitis 71 0.134
79
P OLV001 Olivopontocerebellar Atrophy 51 0.132
80
ADN018 Adenoma 63 0.132
81
P ICH004 Ichthyosis 54 0.130
82
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.130
83
P KDN018 Kidney Disease 69 0.130
84
P MSC005 Muscular Dystrophy 66 0.128
85
HYP266 Hypoxia 61 0.127
86
ANR040 Aneurysm 61 0.127
87
P UVT001 Uveitis 61 0.127
88
P HYD006 Hydrocephalus 68 0.126
89
PRP019 Peripheral Nervous System Disease 53 0.125
90
c LBR014 Leber Congenital Amaurosis 4 48 0.125
91
P RHM011 Rheumatoid Arthritis 91 0.124
92
CRN031 Cranial Nerve Disease 45 0.123
93
P MCR010 Microcephaly 57 0.123
94
SRC014 Sarcoma 68 0.122
95
ANX010 Anxiety 72 0.122
96
c SYS001 Systemic Lupus Erythematosus 86 0.120
97
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.120
98
c 3MT016 3-Methylglutaconic Aciduria, Type Iii 45 0.120
99
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.120
100
ACR006 Aceruloplasminemia 65 0.119
101
P ENC004 Encephalitis 66 0.118
102
P MCR115 Microvascular Complications of Diabetes 5 66 0.117
103
c OPT068 Optic Atrophy 3, Autosomal Dominant 35 0.117
104
P PNM007 Pneumonia 70 0.117
105
P MYC084 Mycobacterium Tuberculosis 1 69 0.114
106
DRM006 Dermatitis 67 0.113
107
RTN017 Retinal Detachment 59 0.113
108
c GLC092 Glaucoma, Primary Open Angle 58 0.112
109
P INF032 Infertility 59 0.110
110
P ATS308 Autosomal Dominant Cerebellar Ataxia 47 0.110
111
P HYP086 Hypothyroidism 62 0.110
112
ALP046 Alport Syndrome, X-Linked 74 0.110
113
P PLY019 Polyneuropathy 58 0.109
114
SPS003 Spastic Diplegia 55 0.109
115
PRP016 Paraplegia 53 0.108
116
P MYL006 Myeloid Leukemia 69 0.105
117
P PRK057 Parkinson Disease, Late-Onset 78 0.104
118
CLS047 Classic Progressive Supranuclear Palsy Syndrome 25 0.102
119
MCL003 Macular Holes 44 0.100
120
TTH006 Tooth Disease 54 0.100
121
CLT003 Colitis 63 0.099
122
P CHR071 Charcot-Marie-Tooth Disease 67 0.099
123
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.098
124
P USH001 Usher Syndrome 59 0.098
125
P PSR002 Psoriasis 65 0.097
126
P ALP008 Alopecia 56 0.097
127
AMB002 Amblyopia 45 0.096
128
RLP002 Relapsing-Remitting Multiple Sclerosis 59 0.095
129
INT075 Intracranial Hypertension 53 0.095
130
VSC011 Vasculitis 66 0.095
131
P SLP006 Sleep Apnea 65 0.095
132
P THR014 Thrombocytopenia 65 0.095
133
HDN002 Head Injury 48 0.094
134
CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 33 0.094
135
CNN005 Connective Tissue Disease 65 0.093
136
MCR013 Microphthalmia 61 0.093
137
CHR081 Choroideremia 57 0.092
138
P PRM016 Primary Optic Atrophy 23 0.092
139
P HYP265 Hypotonia 40 0.091
140
P CLL015 Collagen Disease 53 0.091
141
P KRT007 Keratoconus 49 0.090
142
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.090
143
MYL069 Myeloma, Multiple 86 0.090
144
BNF002 Bone Fracture 56 0.090
145
MGR028 Migraine with or Without Aura 1 55 0.088
146
P SYP003 Syphilis 55 0.088
147
P SCL018 Scoliosis 56 0.087
148
HRP004 Herpes Zoster 61 0.087
149
KRT009 Keratosis 53 0.086
150
STR067 Stroke, Ischemic 84 0.085
151
P LPD010 Lipodystrophy 57 0.085
152
APH002 Aphasia 58 0.084
153
HYP066 Hyperglycemia 64 0.083
154
P AMY004 Amyloidosis 69 0.083
155
P PTS002 Ptosis 50 0.082
156
BSC005 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 33 0.082
157
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 55 0.082
158
P THL005 Thalassemia 65 0.081
159
DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 38 0.081
160
STR020 Strabismus 55 0.081
161
DWR001 Dwarfism 48 0.081
162
P DRR001 Diarrhea 60 0.081
163
PST011 Pustulosis of Palm and Sole 47 0.081
164
MYC033 Myoclonus 40 0.081
165
P AGN002 Agnosia 61 0.080
166
P MMP001 Mumps 61 0.078
167
DWN001 Down Syndrome 70 0.078
168
GNG013 Gingivitis 64 0.078
169
ADR007 Adrenoleukodystrophy 72 0.077
170
GPS001 Gapo Syndrome 36 0.077
171
P HRP006 Herpes Simplex 70 0.077
172
ARC002 Arachnoiditis 45 0.077
173
P PRS038 Personality Disorder 65 0.076
174
CRN025 Corneal Dystrophy 42 0.076
175
P STR022 Stargardt Disease 58 0.075
176
P CRN037 Craniosynostosis 68 0.075
177
NRS003 Neurosyphilis 44 0.074
178
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 45 0.074
179
P GLM007 Glomerulonephritis 61 0.074
180
LVR012 Liver Cirrhosis 73 0.073
181
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41 0.073
182
GLC098 Glaucoma-Related Pigment Dispersion Syndrome 40 0.073
183
P LCT001 Lactic Acidosis 51 0.073
184
CRB037 Cerebral Palsy 70 0.072
185
LGH007 Leigh Syndrome 68 0.072
186
PPL048 Papillorenal Syndrome 53 0.072
187
P ENC011 Encephalomyopathy 40 0.072
188
BTN003 Biotinidase Deficiency 56 0.071
189
P ADT009 Auditory Neuropathy Spectrum Disorder 32 0.070
190
CRT072 Creutzfeldt-Jakob Disease 65 0.070
191
SPS019 Spastic Paraparesis 33 0.069
192
MTC069 Mitochondrial Disorders 49 0.069
193
P ANT006 Antiphospholipid Syndrome 59 0.069
194
P OST001 Osteopetrosis 70 0.069
195
P HYP061 Hypertrophic Cardiomyopathy 65 0.069
196
CHR073 Choreatic Disease 40 0.069
197
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 33 0.069
198
P AXN001 Axonal Neuropathy 38 0.067
199
P TMP003 Temporal Arteritis 67 0.067
200
P NRC002 Narcolepsy 64 0.067
201
P 3MT007 3-Methylglutaconic Aciduria 38 0.067
202
MCK007 Muckle-Wells Syndrome 64 0.066
203
MTC004 Mitochondrial Encephalomyopathy 42 0.066
204
P TRC086 Trichohepatoenteric Syndrome 1 54 0.066
205
P KRB001 Krabbe Disease 70 0.065
206
P MYS005 Myositis 63 0.065
207
BLD163 Blood Group, Dombrock System 23 0.065
208
NRF007 Neurofibroma 65 0.065
209
CRD119 Cardiac Arrest 63 0.064
210
DBT010 Diabetic Neuropathy 60 0.064
211
P LBR001 Leber Congenital Amaurosis 65 0.063
212
GRW036 Growth Control, Y-Chromosome Influenced 33 0.063
213
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 26 0.063
214
CNR004 Cone-Rod Dystrophy 2 69 0.063
215
c HRD010 Hereditary Spastic Paraplegia 68 0.062
216
P FNC043 Fanconi Anemia, Complementation Group E 52 0.062
217
MTC054 Mitochondrial Dna Depletion Syndrome 7 41 0.062
218
KRN002 Kearns-Sayre Syndrome 59 0.062
219
NRP060 Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 50 0.062
220
HRP011 Herpes Zoster Ophthalmicus 26 0.061
221
IMM158 Immune Suppression 57 0.061
222
NRR002 Norrie Disease 61 0.061
223
WLL001 Williams-Beuren Syndrome 63 0.061
224
c ANT034 Anterior Uveitis 53 0.061
225
P CMR001 Camurati-Engelmann Disease 62 0.061
226
CLF027 Cleft Palate, Isolated 61 0.061
227
P FCL005 Focal Segmental Glomerulosclerosis 60 0.061
228
P PSD087 Pseudoxanthoma Elasticum 67 0.060
229
SPC010 Speech and Communication Disorders 40 0.060
230
SYN036 Syncope 46 0.060
231
OLV003 Olivopontocerebellar Atrophy Deafness 15 0.060
232
KRT008 Keratopathy 44 0.060
233
HRD026 Hereditary Ataxia 43 0.059
234
P CRB059 Cerebellar Degeneration 40 0.059
235
P HMP006 Hemiplegic Migraine 49 0.059
236
ADP007 Adie Pupil 41 0.059
237
ATN004 Autonomic Neuropathy 46 0.058
238
c DFN117 Deafness, Autosomal Dominant 15 40 0.058
239
P SHR029 Short Syndrome 54 0.058
240
c SPN364 Spinocerebellar Ataxia, X-Linked 3 23 0.058
241
P CCK001 Cockayne Syndrome 64 0.058
242
P PLZ001 Pelizaeus-Merzbacher Disease 68 0.058
243
P SDR002 Siderosis 48 0.058
244
EWN003 Ewing Sarcoma 72 0.057
245
URT039 Urticaria 59 0.057
246
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 56 0.057
247
CRB045 Cerebellar Hypoplasia 48 0.057
248
MTB004 Metabolic Acidosis 49 0.057
249
PTT046 Pituitary Hormone Deficiency, Combined, 2 57 0.057
250
c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 25 0.056
251
CLC006 Calcinosis 51 0.056
252
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 44 0.056
253
P HLP001 Holoprosencephaly 67 0.056
254
TLN003 Telangiectasis 52 0.056
255
LKD001 Leukodystrophy 57 0.056
256
P HST010 Histiocytosis 60 0.056
257
ALX001 Alexia 44 0.056
258
DNN002 Donnai-Barrow Syndrome 40 0.056
259
P PLY006 Polydactyly 57 0.056
260
MTC005 Mitochondrial Metabolism Disease 33 0.056
261
CHR103 Charge Syndrome 59 0.055
262
P DYS005 Dyslexia 39 0.054
263
c FCL025 Focal Segmental Glomerulosclerosis 1 59 0.054
264
ART005 Arteriovenous Malformation 64 0.054
265
TBS001 Tabes Dorsalis 33 0.054
266
P ORT004 Orthostatic Intolerance 68 0.054
267
HMS001 Hemosiderosis 50 0.054
268
P HMN036 Hemangiopericytoma, Malignant 52 0.053
269
ECH003 Echinococcosis 57 0.053
270
P NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 57 0.053
271
P TYS001 Tay-Sachs Disease 71 0.053
272
BRT054 Brittle Bone Disorder 67 0.053
273
KWS002 Kawasaki Disease 72 0.053
274
c BCT007 Bacterial Meningitis 59 0.052
275
c BTT014 Beta-Thalassemia 70 0.052
276
STH001 Saethre-Chotzen Syndrome 64 0.052
277
CHR001 Churg-Strauss Syndrome 51 0.052
278
VSL002 Visual Epilepsy 27 0.052
279
ARC007 Arachnoid Cysts 39 0.051
280
MCC012 Mccune-Albright Syndrome 65 0.051
281
MTC007 Mitochondrial Complex I Deficiency 56 0.051
282
P NRN021 Neuronal Ceroid Lipofuscinosis 62 0.051
283
P LYM025 Lymphedema 63 0.050
284
P HYP055 Hypoplastic Left Heart Syndrome 63 0.050
285
P CNV004 Canavan Disease 54 0.050
286
CHR506 Choroideremia, Deafness, and Mental Retardation 24 0.050
287
DYS045 Dysosteosclerosis 28 0.050
288
P OCL013 Oculodentodigital Dysplasia 57 0.049
289
P MTC133 Mitochondrial Myopathy 53 0.049
290
ANN002 Anencephaly 57 0.049
291
PRP001 Propionic Acidemia 63 0.049
292
WLS001 Wilson Disease 72 0.049
293
MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38 0.049
294
c PRX045 Peroxisome Biogenesis Disorder 1b 57 0.048
295
P BRD002 Bardet-Biedl Syndrome 61 0.048
296
FCL014 Focal Epilepsy 56 0.048
297
CND005 Cone Dystrophy 42 0.048
298
SKL017 Skeletal Dysplasias 48 0.047
299
RSD004 Rosai-Dorfman Disease 48 0.046
300
c 3MT015 3-Methylglutaconic Aciduria, Type I 44 0.046
301
HYP077 Hypertrichosis 49 0.046
302
P DNR001 Duane Retraction Syndrome 44 0.046
303
CHN016 Cohen Syndrome 48 0.046
304
PTR032 Peters-Plus Syndrome 60 0.046
305
TRS021 Triosephosphate Isomerase Deficiency 51 0.046
306
c WLF009 Wolfram Syndrome 2 33 0.046
307
PLY020 Polyradiculoneuropathy 48 0.046
308
EST005 Esotropia 43 0.046
309
CMB081 Combined Immunodeficiency, X-Linked 64 0.045
310
PYL017 Pyle Disease 49 0.045
311
P CNG010 Congenital Stationary Night Blindness 56 0.045
312
SPN331 Spondyloocular Syndrome 34 0.045
313
SLT014 Salt and Pepper Developmental Regression Syndrome 37 0.045
314
SPR006 Sparganosis 35 0.045
315
HYD002 Hydronephrosis 49 0.045
316
P PRT026 Parotitis 45 0.045
317
CYS008 Cystic Echinococcosis 47 0.045
318
c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30 0.045
319
CFF002 Coffin-Lowry Syndrome 58 0.045
320
BLP004 Blepharophimosis 34 0.044
321
c LBR019 Leber Congenital Amaurosis 9 41 0.044
322
P BLD124 Bleeding Disorder, Platelet-Type, 11 38 0.044
323
WLF002 Wolf-Hirschhorn Syndrome 54 0.044
324
NRL005 Neurilemmoma 64 0.043
325
c OST126 Osteopetrosis, Autosomal Recessive 1 36 0.043
326
FNT004 Fainting 36 0.043
327
ATS010 Autosomal Recessive Disease 40 0.043
328
MLT135 Multiple Sulfatase Deficiency 54 0.043
329
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 46 0.043
330
IRT001 Iritis 36 0.043
331
NNT017 Neonatal Adrenoleukodystrophy 52 0.042
332
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 40 0.042
333
DBT087 Diabetes Insipidus, Neurohypophyseal 62 0.042
334
c 3MT014 3-Methylglutaconic Aciduria, Type V 40 0.042
335
CHN065 Choanal Atresia, Posterior 43 0.042
336
INT065 Interstitial Keratitis 29 0.042
337
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 19 0.042
338
c OST163 Osteopetrosis, Autosomal Recessive 3 33 0.041
339
OCL011 Ocular Motility Disease 31 0.041
340
c CCK007 Cockayne Syndrome B 52 0.041
341
MRS004 Marshall-Smith Syndrome 43 0.041
342
c CCK008 Cockayne Syndrome a 48 0.041
343
c HRD088 Hereditary Neuropathies 40 0.041
344
RBF003 Riboflavin Transporter Deficiency 25 0.041
345
P CRN026 Corneal Edema 43 0.041
346
c BRD011 Bardet-Biedl Syndrome 10 56 0.041
347
TMT002 Temtamy Preaxial Brachydactyly Syndrome 30 0.040
348
c BRD014 Bardet-Biedl Syndrome 2 58 0.040
349
c BRD013 Bardet-Biedl Syndrome 12 55 0.040
350
TNS007 Taeniasis 41 0.040
351
c BRD012 Bardet-Biedl Syndrome 11 55 0.040
352
KHN001 Kuhnt-Junius Degeneration 41 0.040
353
SYM002 Sympathetic Ophthalmia 43 0.040
354
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.040
355
MCR018 Microcytic Anemia 43 0.040
356
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 35 0.040
357
HNT002 Hantavirus Pulmonary Syndrome 57 0.040
358
WRN003 Wernicke Encephalopathy 47 0.040
359
FND002 Fundus Dystrophy 34 0.039
360
P CHN044 Chondrodysplasia Punctata Syndrome 43 0.039
361
c XRD032 Xeroderma Pigmentosum, Complementation Group B 52 0.038
362
P ZLL001 Zellweger Syndrome 56 0.038
363
KTL001 Keutel Syndrome 39 0.038
364
c SCL045 Sclerosteosis 1 35 0.038
365
DFN299 Deafness-Lymphedema-Leukemia Syndrome 25 0.038
366
BRW008 Brown-Vialetto-Van Laere Syndrome 2 21 0.038
367
c OST106 Osteopetrosis, Autosomal Recessive 8 23 0.038
368
BNN003 Bone Inflammation Disease 46 0.037
369
PGT008 Paget Disease of Bone 5, Juvenile-Onset 44 0.037
370
GLC011 Galactose Epimerase Deficiency 46 0.037
371
c OST129 Osteopetrosis, Autosomal Recessive 2 33 0.037
372
FRY002 Fryns Syndrome 43 0.037
373
MTC015 Mitochondrial Dna-Associated Leigh Syndrome and Narp 18 0.036
374
IRD001 Iridocyclitis 44 0.036
375
MDR004 Madras Motor Neuron Disease 29 0.036
376
P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 46 0.035
377
c LTC001 Late Congenital Syphilis 25 0.035
378
c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 40 0.035
379
HYP745 Hyperreflexia 36 0.035
380
c SPS215 Spastic Paraplegia 3, Autosomal Dominant 50 0.034
381
P SCL048 Sclerosteosis 46 0.033
382
P CRN276 Corneal Endothelial Dystrophy 45 0.033
383
c LSS025 Lissencephaly 5 24 0.033
384
AND005 Androgen Insensitivity Syndrome, Mild 16 0.033
385
P GLL032 Galloway-Mowat Syndrome 45 0.033
386
HYP088 Hyper-Igd Syndrome 49 0.033
387
c OST120 Osteopetrosis, Autosomal Recessive 5 23 0.031
388
TKL001 Tukel Syndrome 46 0.028
389
OHD005 Ohdo Syndrome, Sbbys Variant 35 0.028
390
c CTR130 Cataract 9, Multiple Types 41 0.027
391
CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 29 0.027
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