Search results for nystagmus

1014 hits were found for nystagmus

# Family MCID Name MIFTS Score
1
c NYS017 Nystagmus 1, Congenital, X-Linked 25 6.301
2
P XLN065 X-Linked Infantile Nystagmus 19 4.785
3
P CNG024 Congenital Nystagmus 40 4.503
4
c EPS035 Episodic Ataxia, Type 2 54 3.910
5
SPN033 Spontaneous Ocular Nystagmus 33 3.844
6
VST003 Vestibular Nystagmus 28 3.616
7
c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 17 3.548
8
c NYS013 Nystagmus 6, Congenital, X-Linked 16 3.542
9
NYS007 Nystagmus, Hereditary Vertical 11 3.509
10
PTH003 Pathologic Nystagmus 34 3.225
11
c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 16 3.198
12
TRM021 Tremor, Nystagmus, and Duodenal Ulcer 17 3.168
13
SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 17 3.161
14
NYS008 Nystagmus, Myoclonic 10 3.147
15
c NYS012 Nystagmus 5, Congenital, X-Linked 17 2.795
16
c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 14 2.790
17
SPL021 Split Hand Split Foot Nystagmus 9 2.772
18
EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 27 2.758
19
DSS005 Dissociated Nystagmus 12 2.758
20
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 25 2.751
21
FRM005 Frmd7-Related Infantile Nystagmus 7 2.751
22
CHR648 Chorea, Remitting, with Nystagmus and Cataract 11 2.744
23
BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 16 2.727
24
P BMN001 Biemond Syndrome 14 2.718
25
BNG018 Benign Paroxysmal Positional Nystagmus 32 2.294
26
c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 14 2.287
27
NYS018 Nystagmus, Voluntary 7 1.626
28
HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 6 1.626
29
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 9 1.617
30
HYP797 Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses 8 1.617
31
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 34 1.607
32
MNT254 Mental Retardation Syndrome, Mietens-Weber Type 22 1.607
33
c NYS019 Nystagmus, Congenital, Autosomal Recessive 9 1.607
34
ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 5 1.584
35
NYS006 Nystagmus, Congenital Motor, Autosomal Recessive 2 1.584
36
FGS004 Fg Syndrome 4 20 1.569
37
NHS001 Neuhauser Daly Magnelli Syndrome 4 1.569
38
ODN003 O Donnell Pappas Syndrome 7 1.550
39
SLN003 Silengo Lerone Pelizza Syndrome 4 1.550
40
SNG001 Singh Chhaparwal Dhanda Syndrome 4 1.550
41
MMN001 Maumenee Syndrome 4 1.550
42
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.129
43
STR020 Strabismus 55 0.120
44
INT042 Internuclear Ophthalmoplegia 40 0.118
45
NRN002 Neuronitis 43 0.116
46
ALB002 Albinism 45 0.113
47
SPS087 Spasmus Nutans 21 0.101
48
P ANR048 Aniridia 1 68 0.098
49
AST006 Astigmatism 48 0.086
50
OCL011 Ocular Motility Disease 31 0.086
51
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.086
52
P PLZ001 Pelizaeus-Merzbacher Disease 68 0.080
53
RTN023 Retinitis 52 0.077
54
CRN031 Cranial Nerve Disease 45 0.077
55
CNT017 Central Nervous System Origin Vertigo 30 0.077
56
HPT082 Hepatic Adenomas, Familial 52 0.073
57
c SPN309 Spinocerebellar Ataxia 6 48 0.073
58
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.073
59
c ALB024 Albinism, Ocular, Type I 44 0.073
60
EST005 Esotropia 43 0.073
61
MTN003 Motion Sickness 52 0.069
62
c ALB021 Albinism, Oculocutaneous, Type Ii 47 0.069
63
P OCL001 Ocular Albinism 46 0.069
64
P HYP265 Hypotonia 40 0.069
65
VST001 Vestibular Neuronitis 32 0.069
66
ANR038 Anorexia Nervosa 1 21 0.069
67
MTR031 Motor Neuro-Ophthalmic Disorders 20 0.069
68
BLD137 Blood Group--Ahonen 17 0.069
69
ACR006 Aceruloplasminemia 65 0.065
70
P CTR002 Cataract 60 0.065
71
P ATS308 Autosomal Dominant Cerebellar Ataxia 47 0.065
72
BLC001 Blue Cone Monochromacy 45 0.065
73
c ALB009 Albinism, Oculocutaneous, Type Ia 41 0.065
74
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.065
75
c BLD140 Blood Group, I System 37 0.065
76
P ACH003 Achromatopsia 57 0.061
77
c SPN305 Spinocerebellar Ataxia 11 43 0.061
78
ALN001 Aland Island Eye Disease 39 0.061
79
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.061
80
c ALB020 Albinism, Oculocutaneous, Type Iii 29 0.061
81
PTR032 Peters-Plus Syndrome 60 0.057
82
P FRD012 Friedreich Ataxia 1 58 0.057
83
P OCL002 Oculocutaneous Albinism 57 0.057
84
P CNG010 Congenital Stationary Night Blindness 56 0.057
85
c LBR004 Leber Congenital Amaurosis 1 41 0.057
86
P MRN003 Marinesco-Sjogren Syndrome 38 0.057
87
SPN331 Spondyloocular Syndrome 34 0.057
88
PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 32 0.057
89
c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31 0.057
90
c ALB017 Albinism, Oculocutaneous, Type Vi 26 0.057
91
P FVL006 Foveal Hypoplasia 1 23 0.057
92
P MLT020 Multiple Sclerosis 85 0.052
93
ALP046 Alport Syndrome, X-Linked 74 0.052
94
P JBR020 Joubert Syndrome 1 68 0.052
95
P AST007 Astrocytoma 66 0.052
96
P LBR001 Leber Congenital Amaurosis 65 0.052
97
P MCH002 Machado-Joseph Disease 63 0.052
98
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.052
99
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52 0.052
100
CCH002 Coach Syndrome 51 0.052
101
c NGH026 Night Blindness, Congenital Stationary, Type 1a 51 0.052
102
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 46 0.052
103
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 45 0.052
104
RFR003 Refractive Error 45 0.052
105
c ACH021 Achromatopsia 3 44 0.052
106
P SPS133 Spastic Paraplegia 2, X-Linked 41 0.052
107
JLL001 Jalili Syndrome 41 0.052
108
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 40 0.052
109
P CRB059 Cerebellar Degeneration 40 0.052
110
LTR003 Lateral Medullary Syndrome 38 0.052
111
NNC002 Nance-Horan Syndrome 37 0.052
112
GPS001 Gapo Syndrome 36 0.052
113
DSM002 Desmosterolosis 35 0.052
114
c ALB010 Albinism, Oculocutaneous, Type Ib 32 0.052
115
c SPN101 Spinocerebellar Ataxia 29 31 0.052
116
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 30 0.052
117
HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 27 0.052
118
CHR167 Chorioretinal Atrophy, Progressive Bifocal 23 0.052
119
c LKD016 Leukodystrophy, Hypomyelinating, 9 22 0.052
120
P ATX030 Ataxia-Telangiectasia 80 0.046
121
P NRV007 Nervous System Disease 75 0.046
122
DWN001 Down Syndrome 70 0.046
123
CHD001 Chediak-Higashi Syndrome 67 0.046
124
AGN016 Aging 65 0.046
125
CRT072 Creutzfeldt-Jakob Disease 65 0.046
126
P CRD224 Cardiofaciocutaneous Syndrome 1 65 0.046
127
P HYP086 Hypothyroidism 62 0.046
128
P BRD002 Bardet-Biedl Syndrome 61 0.046
129
SNS001 Sensorineural Hearing Loss 59 0.046
130
P HLL001 Hallermann-Streiff Syndrome 58 0.046
131
c PSD108 Pseudohypoparathyroidism, Type Ia 57 0.046
132
P MYP006 Myopia 56 0.046
133
c CHR320 Chiari Malformation Type I 56 0.046
134
ALS001 Alstrom Syndrome 55 0.046
135
NRT004 Neuritis 55 0.046
136
MGR028 Migraine with or Without Aura 1 55 0.046
137
SPT006 Septooptic Dysplasia 54 0.046
138
BRJ001 Borjeson-Forssman-Lehmann Syndrome 54 0.046
139
P TRM003 Tremor 54 0.046
140
P CRN108 Cranioectodermal Dysplasia 1 53 0.046
141
CHN055 Chanarin-Dorfman Syndrome 51 0.046
142
ACR012 Aicardi Syndrome 49 0.046
143
c EPL169 Epileptic Encephalopathy, Early Infantile, 36 49 0.046
144
P HMP006 Hemiplegic Migraine 49 0.046
145
BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 49 0.046
146
CRB045 Cerebellar Hypoplasia 48 0.046
147
c LBR012 Leber Congenital Amaurosis 2 47 0.046
148
c CNG412 Congenital Disorder of Glycosylation, Type Ii 47 0.046
149
NRM019 Neuraminidase Deficiency 47 0.046
150
VCS001 Vici Syndrome 46 0.046
151
CHR222 Chromosome 1p36 Deletion Syndrome 46 0.046
152
LRN001 Laurence-Moon Syndrome 46 0.046
153
c LKD010 Leukodystrophy, Hypomyelinating, 2 43 0.046
154
LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 42 0.046
155
SPS057 Spasticity 41 0.046
156
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 41 0.046
157
EXT022 Exotropia 41 0.046
158
CRB009 Cerebritis 41 0.046
159
c ACH020 Achromatopsia 2 40 0.046
160
c PSD117 Pseudohypoparathyroidism, Type Ic 39 0.046
161
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 38 0.046
162
CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 37 0.046
163
c LKD008 Leukodystrophy, Hypomyelinating, 4 37 0.046
164
SPL040 Split Hand 34 0.046
165
c ACH023 Achromatopsia 4 33 0.046
166
OCL034 Oculocerebrocutaneous Syndrome 33 0.046
167
CRB081 Cerebellar Ataxia, Cayman Type 33 0.046
168
c MGR032 Migraine, Familial Hemiplegic, 1 32 0.046
169
MMS001 Momo Syndrome 32 0.046
170
c NGH029 Night Blindness, Congenital Stationary, Type 1e 32 0.046
171
c SPN104 Spinocerebellar Ataxia 34 32 0.046
172
c SCH069 Schindler Disease, Type I 31 0.046
173
c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 30 0.046
174
c LBR016 Leber Congenital Amaurosis 6 30 0.046
175
c MCR329 Microcephaly, Autosomal Dominant 30 0.046
176
ATX039 Ataxia-Pancytopenia Syndrome 30 0.046
177
c PLZ002 Pelizaeus-Merzbacher-Like Disease 30 0.046
178
PRG123 Progeroid Syndrome, Neonatal 30 0.046
179
MCP039 Mucoepithelial Dysplasia, Hereditary 30 0.046
180
RCH002 Richards-Rundle Syndrome 30 0.046
181
c ALB019 Albinism, Oculocutaneous, Type Iv 30 0.046
182
SPL039 Split Foot 30 0.046
183
c SPN283 Spinocerebellar Ataxia 37 29 0.046
184
c LBR018 Leber Congenital Amaurosis 8 29 0.046
185
c ALB015 Albinism, Oculocutaneous, Type V 28 0.046
186
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 28 0.046
187
c SPN284 Spinocerebellar Ataxia 38 27 0.046
188
c STR085 Striatonigral Degeneration, Infantile 27 0.046
189
c CNG201 Congenital Disorder of Glycosylation, Type Iij 27 0.046
190
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 26 0.046
191
c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26 0.046
192
c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 26 0.046
193
c CHR609 Charcot-Marie-Tooth Disease, Type 4k 24 0.046
194
c FVL008 Foveal Hypoplasia 2 22 0.046
195
HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 22 0.046
196
URC006 Urocanase Deficiency 22 0.046
197
OCL016 Ocular Albinism, X-Linked 21 0.046
198
c SPS191 Spastic Ataxia 7, Autosomal Dominant 21 0.046
199
CNR033 Cone-Rod Synaptic Disorder, Congenital Nonprogressive 20 0.046
200
APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 20 0.046
201
c ACH038 Achromatopsia 7 19 0.046
202
CRM007 Crome Syndrome 19 0.046
203
c ALT008 Alternating Hemiplegia of Childhood 1 18 0.046
204
c LBR017 Leber Congenital Amaurosis 7 18 0.046
205
c LBR006 Leber Congenital Amaurosis 11 18 0.046
206
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 17 0.046
207
P RTN008 Retinitis Pigmentosa 81 0.040
208
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.040
209
ANX010 Anxiety 72 0.040
210
SMT004 Smith-Lemli-Opitz Syndrome 70 0.040
211
LGH007 Leigh Syndrome 68 0.040
212
ATM095 Autoimmune Disease 66 0.040
213
P ENC004 Encephalitis 66 0.040
214
MLT157 Multiple System Atrophy 1 65 0.040
215
RFS006 Refsum Disease, Classic 63 0.040
216
c MNN047 Mannosidosis, Alpha B, Lysosomal 63 0.040
217
P HRM001 Hermansky-Pudlak Syndrome 62 0.040
218
c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60 0.040
219
P CFF008 Coffin-Siris Syndrome 1 59 0.040
220
c SPN294 Spinocerebellar Ataxia 1 58 0.040
221
P ENC018 Encephalopathy 58 0.040
222
c PRX045 Peroxisome Biogenesis Disorder 1b 57 0.040
223
c CNG021 Congenital Toxoplasmosis 57 0.040
224
AMY087 Amyloidosis, Hereditary, Transthyretin-Related 57 0.040
225
P MLT007 Multiple Epiphyseal Dysplasia 57 0.040
226
P EPS003 Episodic Ataxia 57 0.040
227
ACR008 Acrocallosal Syndrome 56 0.040
228
WLF002 Wolf-Hirschhorn Syndrome 54 0.040
229
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54 0.040
230
PRP016 Paraplegia 53 0.040
231
P OTS001 Otosclerosis 53 0.040
232
WRN002 Wernicke-Korsakoff Syndrome 52 0.040
233
c FML023 Familial Hemiplegic Migraine 51 0.040
234
P NGH001 Night Blindness 51 0.040
235
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 50 0.040
236
P CLR019 Color Blindness 50 0.040
237
P CRV039 Cervicitis 49 0.040
238
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.040
239
ALL001 Allan-Herndon-Dudley Syndrome 49 0.040
240
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.040
241
c LBR014 Leber Congenital Amaurosis 4 48 0.040
242
c HRM005 Hermansky-Pudlak Syndrome 1 47 0.040
243
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.040
244
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.040
245
P TRT019 Torticollis 45 0.040
246
c 3MT016 3-Methylglutaconic Aciduria, Type Iii 45 0.040
247
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.040
248
VST004 Vestibular Disease 45 0.040
249
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.040
250
c HRM017 Hermansky-Pudlak Syndrome 2 45 0.040
251
P DNR001 Duane Retraction Syndrome 44 0.040
252
c SPN100 Spinocerebellar Ataxia 27 44 0.040
253
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 43 0.040
254
HRD026 Hereditary Ataxia 43 0.040
255
c SPN311 Spinocerebellar Ataxia 13 42 0.040
256
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.040
257
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.040
258
c LBR019 Leber Congenital Amaurosis 9 41 0.040
259
SPN050 Spinocerebellar Degeneration 41 0.040
260
P LBY004 Labyrinthitis 41 0.040
261
DND001 Dandy-Walker Syndrome 41 0.040
262
c MCR263 Microphthalmia, Syndromic 1 41 0.040
263
c SPN103 Spinocerebellar Ataxia 31 40 0.040
264
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.040
265
c SPN106 Spinocerebellar Ataxia 5 40 0.040
266
c SPN308 Spinocerebellar Ataxia 28 38 0.040
267
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.040
268
c SPN304 Spinocerebellar Ataxia 8 36 0.040
269
INF129 Infantile Cerebellar-Retinal Degeneration 36 0.040
270
KFM001 Kaufman Oculocerebrofacial Syndrome 36 0.040
271
c LBR007 Leber Congenital Amaurosis 12 35 0.040
272
c SPN299 Spinocerebellar Ataxia 20 35 0.040
273
c LBR011 Leber Congenital Amaurosis 16 35 0.040
274
c LBR009 Leber Congenital Amaurosis 14 33 0.040
275
ACR025 Acrocephalopolydactylous Dysplasia 33 0.040
276
c TRC101 Trichothiodystrophy 4, Nonphotosensitive 32 0.040
277
c KNB006 Knobloch Syndrome 1 32 0.040
278
c HRM012 Hermansky-Pudlak Syndrome 9 32 0.040
279
c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32 0.040
280
HYP048 Hypotropia 31 0.040
281
P MCR251 Microphthalmia, Syndromic 6 30 0.040
282
c SPN099 Spinocerebellar Ataxia 26 30 0.040
283
MTC063 Mitochondrial Dna Depletion Syndrome 3 30 0.040
284
c LBR015 Leber Congenital Amaurosis 5 30 0.040
285
LKN007 Leukonychia Totalis 27 0.040
286
CRN045 Corneal Dystrophy and Perceptive Deafness 27 0.040
287
c SPS205 Spastic Paraplegia 79, Autosomal Recessive 26 0.040
288
c SPN098 Spinocerebellar Ataxia 25 26 0.040
289
XLN012 X-Linked Congenital Stationary Night Blindness 26 0.040
290
c SPN383 Spinocerebellar Ataxia 42 25 0.040
291
c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 24 0.040
292
PRT101 Poretti-Boltshauser Syndrome 24 0.040
293
MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 23 0.040
294
MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 23 0.040
295
CND012 Cone Dystrophy 4 23 0.040
296
c ALB016 Albinism, Oculocutaneous, Type Vii 23 0.040
297
c LBR010 Leber Congenital Amaurosis 15 22 0.040
298
CMB018 Combined Oxidative Phosphorylation Deficiency 7 22 0.040
299
WDS002 Woods Syndrome 21 0.040
300
RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 21 0.040
301
c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 21 0.040
302
VSL005 Visual Pathway Disease 21 0.040
303
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 20 0.040
304
ERM001 Ermine Phenotype 20 0.040
305
c ALT007 Alternating Hemiplegia of Childhood 2 19 0.040
306
NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 19 0.040
307
c EPS034 Episodic Ataxia, Type 5 19 0.040
308
BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 18 0.040
309
c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 18 0.040
310
CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 18 0.040
311
c PRX089 Peroxisome Biogenesis Disorder 10b 18 0.040
312
EPL138 Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 14 0.040
313
CSK001 Cask-Related Disorders 7 0.040
314
P FNC027 Fanconi Anemia, Complementation Group a 78 0.033
315
P NNN008 Noonan Syndrome 1 77 0.033
316
VNH007 Von Hippel-Lindau Syndrome 72 0.033
317
P MTC003 Metachromatic Leukodystrophy 72 0.033
318
P SPR120 Supranuclear Palsy, Progressive, 1 70 0.033
319
P KRB001 Krabbe Disease 70 0.033
320
P FRG001 Fragile X Syndrome 69 0.033
321
CNR004 Cone-Rod Dystrophy 2 69 0.033
322
P HYD006 Hydrocephalus 68 0.033
323
P MCL013 Mucolipidosis Iv 67 0.033
324
P TMP003 Temporal Arteritis 67 0.033
325
P CRN015 Cornelia De Lange Syndrome 65 0.033
326
WLL001 Williams-Beuren Syndrome 63 0.033
327
P KLL001 Kallmann Syndrome 63 0.033
328
P NRP001 Neuropathy 63 0.033
329
LWC002 Lowe Oculocerebrorenal Syndrome 62 0.033
330
P KBK002 Kabuki Syndrome 1 62 0.033
331
NRR002 Norrie Disease 61 0.033
332
P WLF004 Wolfram Syndrome 61 0.033
333
P GLM045 Glioma 61 0.033
334
KLP010 Klippel-Trenaunay-Weber Syndrome 60 0.033
335
SPN008 Spondyloepiphyseal Dysplasia Congenita 60 0.033
336
P TRC102 Trichothiodystrophy 1, Photosensitive 59 0.033
337
P USH001 Usher Syndrome 59 0.033
338
P GRS003 Griscelli Syndrome 58 0.033
339
DMY004 Demyelinating Disease 58 0.033
340
ALX003 Alexander Disease 58 0.033
341
c BRD014 Bardet-Biedl Syndrome 2 58 0.033
342
MVL001 Mevalonic Aciduria 57 0.033
343
DBF001 D-Bifunctional Protein Deficiency 57 0.033
344
P MCR010 Microcephaly 57 0.033
345
FCL009 Focal Dermal Hypoplasia 57 0.033
346
P OCL013 Oculodentodigital Dysplasia 57 0.033
347
ERD001 Erdheim-Chester Disease 57 0.033
348
MTC007 Mitochondrial Complex I Deficiency 56 0.033
349
c BRD011 Bardet-Biedl Syndrome 10 56 0.033
350
P STS008 Sotos Syndrome 1 56 0.033
351
P SPN301 Spinocerebellar Ataxia 2 56 0.033
352
PSD014 Pseudopseudohypoparathyroidism 56 0.033
353
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.033
354
HDC001 Headache 55 0.033
355
RBR001 Roberts Syndrome 55 0.033
356
END081 Endosteal Hyperostosis, Autosomal Dominant 55 0.033
357
c BRD013 Bardet-Biedl Syndrome 12 55 0.033
358
c BRD012 Bardet-Biedl Syndrome 11 55 0.033
359
P CNV004 Canavan Disease 54 0.033
360
c XRD031 Xeroderma Pigmentosum, Complementation Group F 53 0.033
361
c CNG415 Congenital Disorder of Glycosylation, Type Ia 53 0.033
362
PPL048 Papillorenal Syndrome 53 0.033
363
c GNG001 Gangliosidosis Gm1 52 0.033
364
c PSD066 Pseudohypoparathyroidism, Type Ib 52 0.033
365
LNT004 Lentigines 52 0.033
366
c CCK007 Cockayne Syndrome B 52 0.033
367
c WRD033 Waardenburg Syndrome, Type 2e 52 0.033
368
c WLF013 Wolfram Syndrome 1 52 0.033
369
NNT017 Neonatal Adrenoleukodystrophy 52 0.033
370
BLL001 Baller-Gerold Syndrome 51 0.033
371
WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 51 0.033
372
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 51 0.033
373
P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 50 0.033
374
HYP691 Hypomelanosis of Ito 49 0.033
375
PNC056 Pineocytoma 49 0.033
376
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49 0.033
377
c SPL024 Split-Hand/foot Malformation 3 49 0.033
378
c CCK008 Cockayne Syndrome a 48 0.033
379
MTC020 Mitochondrial Complex Ii Deficiency 48 0.033
380
HRT031 Hartnup Disorder 48 0.033
381
DYS018 Dysostosis 48 0.033
382
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 48 0.033
383
WRN003 Wernicke Encephalopathy 47 0.033
384
c GRS013 Griscelli Syndrome, Type 1 47 0.033
385
c CNG124 Congenital Rubella 47 0.033
386
P MWT001 Mowat-Wilson Syndrome 47 0.033
387
HMM003 Hemimegalencephaly 47 0.033
388
c HRM006 Hermansky-Pudlak Syndrome 3 47 0.033
389
c SPN296 Spinocerebellar Ataxia 17 46 0.033
390
FRB001 Farber Lipogranulomatosis 46 0.033
391
SDD008 Sudden Sensorineural Hearing Loss 46 0.033
392
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 46 0.033
393
CRN005 Craniofrontonasal Syndrome 46 0.033
394
CHR105 Choreoacanthocytosis 46 0.033
395
c SPN314 Spinocerebellar Ataxia 10 46 0.033
396
c PSD106 Pseudo-Torch Syndrome 1 46 0.033
397
c USH035 Usher Syndrome Type 2 45 0.033
398
CNN011 Cenani-Lenz Syndactyly Syndrome 45 0.033
399
P THM010 Thiamine Metabolism Dysfunction Syndrome 2 45 0.033
400
ARC002 Arachnoiditis 45 0.033
401
MRS002 Marshall Syndrome 45 0.033
402
c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 45 0.033
403
c OPT053 Optic Atrophy 1 45 0.033
404
P LSS036 Lissencephaly, X-Linked, 1 45 0.033
405
NRN008 Neuronal Intranuclear Inclusion Disease 44 0.033
406
c LKD015 Leukodystrophy, Hypomyelinating, 3 44 0.033
407
DNR002 Duane-Radial Ray Syndrome 44 0.033
408
CRN041 Carnitine-Acylcarnitine Translocase Deficiency 44 0.033
409
DBW001 Dubowitz Syndrome 44 0.033
410
KRT008 Keratopathy 44 0.033
411
c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 43 0.033
412
c ORF034 Orofaciodigital Syndrome Vi 43 0.033
413
HYP186 Hypertrophic Neuropathy of Dejerine-Sottas 43 0.033
414
ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 43 0.033
415
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 43 0.033
416
CRB108 Cerebral Palsy, Ataxic, Autosomal Recessive 43 0.033
417
c SPN312 Spinocerebellar Ataxia 14 43 0.033
418
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.033
419
P SLL003 Salla Disease 43 0.033
420
c CHR579 Chiari Malformation Type Ii 42 0.033
421
c LKD019 Leukodystrophy, Hypomyelinating, 6 42 0.033
422
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 42 0.033
423
CND005 Cone Dystrophy 42 0.033
424
ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 42 0.033
425
MLK003 Melkersson-Rosenthal Syndrome 42 0.033
426
JBR006 Joubert Syndrome with Oculorenal Anomalies 42 0.033
427
P CRB101 Cerebrooculofacioskeletal Syndrome 1 42 0.033
428
c PRX059 Peroxisome Biogenesis Disorder 1a 41 0.033
429
c CTR130 Cataract 9, Multiple Types 41 0.033
430
ART002 Arts Syndrome 41 0.033
431
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41 0.033
432
CRN241 Corneal Dystrophy, Congenital Stromal 41 0.033
433
MTC054 Mitochondrial Dna Depletion Syndrome 7 41 0.033
434
c ATX040 Ataxia-Telangiectasia-Like Disorder 1 41 0.033
435
MYC033 Myoclonus 40 0.033
436
SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 40 0.033
437
c SPN290 Spinocerebellar Ataxia 15 40 0.033
438
WBR001 Weber Syndrome 40 0.033
439
c CNG206 Congenital Disorder of Glycosylation, Type Ie 40 0.033
440
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40 0.033
441
RVS001 Revesz Syndrome 39 0.033
442
c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 39 0.033
443
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 39 0.033
444
CRB026 Cerebellar Astrocytoma 39 0.033
445
c CHR516 Charcot-Marie-Tooth Disease, Type 4c 39 0.033
446
HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 39 0.033
447
ARC007 Arachnoid Cysts 39 0.033
448
PTC001 Potocki-Shaffer Syndrome 38 0.033
449
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 38 0.033
450
c PNT018 Pontocerebellar Hypoplasia, Type 1b 38 0.033
451
CRB029 Cerebellopontine Angle Tumor 38 0.033
452
GRD009 Gordon Holmes Syndrome 38 0.033
453
c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38 0.033
454
DLT018 Dilution, Pigmentary 37 0.033
455
ADN022 Adenylosuccinase Deficiency 37 0.033
456
P ISL078 Isolated Ectopia Lentis 37 0.033
457
c SPS116 Spastic Paraplegia 26, Autosomal Recessive 37 0.033
458
c GLL038 Galloway-Mowat Syndrome 1 37 0.033
459
c ATS282 Autosomal Recessive Malignant Osteopetrosis 37 0.033
460
DNC004 Diencephalic Syndrome 37 0.033
461
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37 0.033
462
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 37 0.033
463
c HYP534 Hypomagnesemia 3, Renal 37 0.033
464
BHR001 Behr Syndrome 36 0.033
465
c OST126 Osteopetrosis, Autosomal Recessive 1 36 0.033
466
c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 36 0.033
467
c EPS017 Episodic Ataxia, Type 6 36 0.033
468
c SPN094 Spinocerebellar Ataxia 18 36 0.033
469
c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 36 0.033
470
CHR518 Chromosome 9p Deletion Syndrome 36 0.033
471
JBR005 Joubert Syndrome with Ocular Anomalies 36 0.033
472
PPL050 Papillary Tumor of the Pineal Region 36 0.033
473
c RTN050 Retinitis Pigmentosa 20 35 0.033
474
c OPT068 Optic Atrophy 3, Autosomal Dominant 35 0.033
475
c SCL045 Sclerosteosis 1 35 0.033
476
MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 35 0.033
477
CHR382 Chromosome 18q Deletion Syndrome 35 0.033
478
c CNG513 Congenital Ptosis 35 0.033
479
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.033
480
SNG007 Sengers Syndrome 34 0.033
481
P ANT086 Anterior Segment Dysgenesis 2 34 0.033
482
FRG010 Fragile X Tremor/ataxia Syndrome 34 0.033
483
CHR501 Chromosome 17q12 Deletion Syndrome 34 0.033
484
48X003 48,xxyy Syndrome 33 0.033
485
c ACR088 Aicardi-Goutieres Syndrome 3 33 0.033
486
GLL028 Gillespie Syndrome 33 0.033
487
c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 33 0.033
488
BSC005 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 33 0.033
489
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 33 0.033
490
INF159 Infantile Sialic Acid Storage Disease 33 0.033
491
c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 33 0.033
492
c MTR051 Maternal Uniparental Disomy of Chromosome 1 33 0.033
493
OLV004 Oliver-Mcfarlane Syndrome 33 0.033
494
OCL048 Oculoauricular Syndrome 33 0.033
495
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33 0.033
496
TTR012 Tetrasomy 9p 32 0.033
497
CDS002 Codas Syndrome 32 0.033
498
c CTR102 Cataract 2, Multiple Types 32 0.033
499
CHR391 Chromosome 15q24 Deletion Syndrome 32 0.033
500
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 32 0.033
501
P ALB023 Albinism, Ocular, with Sensorineural Deafness 32 0.033
502
EXD009 Exudative Vitreoretinopathy 2, X-Linked 32 0.033
503
LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 31 0.033
504
GRL004 Gorlin-Chaudhry-Moss Syndrome 31 0.033
505
FRS004 Free Sialic Acid Storage Disorders 31 0.033
506
NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 31 0.033
507
P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 31 0.033
508
c CNG200 Congenital Disorder of Glycosylation, Type Iq 31 0.033
509
c PNT033 Pontocerebellar Hypoplasia, Type 10 31 0.033
510
c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31 0.033
511
c CNG205 Congenital Disorder of Glycosylation, Type Ij 30 0.033
512
P SCH017 Schindler Disease 30 0.033
513
ALR002 Al-Raqad Syndrome 30 0.033
514
c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 30 0.033
515
SPN348 Spondylometaphyseal Dysplasia, Axial 30 0.033
516
PLY117 Polymicrogyria, Bilateral Frontoparietal 30 0.033
517
c SPN095 Spinocerebellar Ataxia 19 30 0.033
518
JBR007 Joubert Syndrome with Renal Anomalies 30 0.033
519
c LBR013 Leber Congenital Amaurosis 3 30 0.033
520
PRT055 Prieto X-Linked Mental Retardation Syndrome 30 0.033
521
c HRM020 Hermansky-Pudlak Syndrome 10 30 0.033
522
HSD004 Hsd10 Mitochondrial Disease 30 0.033
523
c SPN096 Spinocerebellar Ataxia 21 30 0.033
524
MHM001 Mehmo Syndrome 30 0.033
525
c EPS037 Episodic Ataxia, Type 4 29 0.033
526
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29 0.033
527
HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 29 0.033
528
CTR014 Cataract Microcornea Syndrome 29 0.033
529
c HRM010 Hermansky-Pudlak Syndrome 7 29 0.033
530
c CNG188 Congenital Disorder of Glycosylation, Type if 29 0.033
531
CMB012 Combined Oxidative Phosphorylation Deficiency 1 29 0.033
532
PNT009 Pontine Tegmental Cap Dysplasia 29 0.033
533
WTT002 Witteveen-Kolk Syndrome 29 0.033
534
MTC058 Mitochondrial Dna Depletion Syndrome 6 29 0.033
535
MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 29 0.033
536
c GCH013 Gaucher Disease, Type Iiic 29 0.033
537
DYS045 Dysosteosclerosis 28 0.033
538
c ACR081 Aicardi-Goutieres Syndrome 6 28 0.033
539
c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28 0.033
540
24D001 2,4-Dienoyl-Coa Reductase Deficiency 28 0.033
541
c ANR047 Aniridia 2 28 0.033
542
RTN035 Retinal Cone Dystrophy 3b 28 0.033
543
PHS021 Phosphoglycerate Dehydrogenase Deficiency 28 0.033
544
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28 0.033
545
LCH015 Lichtenstein-Knorr Syndrome 28 0.033
546
c CNG389 Congenital Disorder of Glycosylation, Type Iim 28 0.033
547
c JBR004 Joubert Syndrome 2 28 0.033
548
c SPN372 Spinocerebellar Ataxia 43 27 0.033
549
CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 27 0.033
550
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27 0.033
551
c FML306 Familial or Sporadic Hemiplegic Migraine 27 0.033
552
ISL011 Isolated Aniridia 27 0.033
553
c SPS203 Spastic Paraplegia 78, Autosomal Recessive 27 0.033
554
LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 27 0.033
555
c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27 0.033
556
c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27 0.033
557
c USH044 Usher Syndrome, Type Iiib 26 0.033
558
ARM010 Arima Syndrome 26 0.033
559
PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 26 0.033
560
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26 0.033
561
3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 26 0.033
562
MTC088 Mitochondrial Dna Depletion Syndrome 13 26 0.033
563
STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26 0.033
564
FTL062 Fetal Iodine Deficiency Disorder 26 0.033
565
16Q001 16q24.3 Microdeletion Syndrome 26 0.033
566
c LKD022 Leukodystrophy, Hypomyelinating, 13 26 0.033
567
c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 26 0.033
568
c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 26 0.033
569
c CRB100 Cerebrooculofacioskeletal Syndrome 4 26 0.033
570
RCH010 Richieri-Costa/guion-Almeida Syndrome 26 0.033
571
CRN128 Corneal Dystrophy, Endothelial, X-Linked 26 0.033
572
c PRX053 Peroxisome Biogenesis Disorder 14b 26 0.033
573
c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26 0.033
574
c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 25 0.033
575
CLS047 Classic Progressive Supranuclear Palsy Syndrome 25 0.033
576
c PNT039 Pontocerebellar Hypoplasia, Type 7 25 0.033
577
c EXD004 Exudative Vitreoretinopathy 4 25 0.033
578
SCH074 Schuurs-Hoeijmakers Syndrome 25 0.033
579
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 25 0.033
580
c PNT030 Pontocerebellar Hypoplasia, Type 8 25 0.033
581
BRK011 Brooks-Wisniewski-Brown Syndrome 25 0.033
582
RTN034 Retinal Cone Dystrophy 3a 25 0.033
583
HYP213 Hypomelanotic Disorder 25 0.033
584
c JBR012 Joubert Syndrome 5 25 0.033
585
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 25 0.033
586
c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25 0.033
587
HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 25 0.033
588
SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 25 0.033
589
c PRR020 Perrault Syndrome 1 24 0.033
590
c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24 0.033
591
c CNG498 Congenital Disorder of Glycosylation, Type Iin 24 0.033
592
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24 0.033
593
c SPS213 Spastic Paraplegia 75, Autosomal Recessive 24 0.033
594
CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 24 0.033
595
CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 24 0.033
596
HSH001 Hashimoto-Pritzker Syndrome 24 0.033
597
CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 24 0.033
598
c PRX046 Peroxisome Biogenesis Disorder 7a 24 0.033
599
c SPS136 Spastic Ataxia 3, Autosomal Recessive 24 0.033
600
LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 24 0.033
601
PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 24 0.033
602
c MCR228 Microphthalmia, Syndromic 13 24 0.033
603
c JBR041 Joubert Syndrome 3 24 0.033
604
c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24 0.033
605
c FRD006 Friedreich Ataxia 2 24 0.033
606
c STS007 Sotos Syndrome 2 24 0.033
607
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 24 0.033
608
c JBR024 Joubert Syndrome 14 23 0.033
609
CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 23 0.033
610
c NGH027 Night Blindness, Congenital Stationary, Type 1c 23 0.033
611
c LKD020 Leukodystrophy, Hypomyelinating, 10 23 0.033
612
c WRB004 Warburg Micro Syndrome 3 23 0.033
613
HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 23 0.033
614
c NPH053 Nephronophthisis 11 23 0.033
615
CNR037 Cone-Rod Dystrophy and Hearing Loss 23 0.033
616
c JBR011 Joubert Syndrome 7 23 0.033
617
c CTR131 Cataract 17, Multiple Types 23 0.033
618
ATX037 Ataxia-Deafness-Retardation Syndrome 23 0.033
619
EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 23 0.033
620
CNR031 Cone-Rod Dystrophy, X-Linked, 1 22 0.033
621
MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 22 0.033
622
MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 22 0.033
623
MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 22 0.033
624
c JBR035 Joubert Syndrome 24 22 0.033
625
CNR038 Cone-Rod Dystrophy, X-Linked, 3 22 0.033
626
c SPS208 Spastic Ataxia 4, Autosomal Recessive 22 0.033
627
c JBR018 Joubert Syndrome 4 22 0.033
628
MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 22 0.033
629
c MNT262 Mental Retardation, Autosomal Dominant 42 22 0.033
630
c JBR037 Joubert Syndrome 26 22 0.033
631
c ART131 Arthrogryposis, Distal, Type 4 22 0.033
632
c SCN048 Secondary Syringomyelia 22 0.033
633
c MNT226 Mental Retardation, Autosomal Dominant 31 22 0.033
634
c MNT213 Mental Retardation, Autosomal Recessive 40 22 0.033
635
DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 22 0.033
636
SHR082 Short Stature, Microcephaly, and Endocrine Dysfunction 22 0.033
637
c NGH028 Night Blindness, Congenital Stationary, Type 1d 22 0.033
638
c PRX058 Peroxisome Biogenesis Disorder 4b 21 0.033
639
CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 21 0.033
640
OCL071 Oculocerebral Hypopigmentation Syndrome of Preus 21 0.033
641
c SPS142 Spastic Ataxia 2, Autosomal Recessive 21 0.033
642
c EPL189 Epileptic Encephalopathy, Early Infantile, 37 21 0.033
643
HMC036 Homocystinuria Without Methylmalonic Aciduria 21 0.033
644
MTC137 Mitochondrial Complex V Deficiency, Nuclear Type 4 21 0.033
645
c EPS033 Episodic Ataxia, Type 8 21 0.033
646
CMB064 Combined Oxidative Phosphorylation Deficiency 24 21 0.033
647
c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21 0.033
648
c SNR016 Senior-Loken Syndrome 9 21 0.033
649
c PRX047 Peroxisome Biogenesis Disorder 5b 21 0.033
650
c SPN102 Spinocerebellar Ataxia 30 21 0.033
651
SPR038 Supranuclear Ocular Palsy 21 0.033
652
c PRX062 Peroxisome Biogenesis Disorder 8b 21 0.033
653
MCR330 Microphthalmia, Isolated, with Cataract 1 21 0.033
654
c CTR165 Cataract 19, Multiple Types 21 0.033
655
BRW008 Brown-Vialetto-Van Laere Syndrome 2 21 0.033
656
PYR025 Pyruvate Dehydrogenase E2 Deficiency 21 0.033
657
c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21 0.033
658
HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 21 0.033
659
RTN185 Retinal Dysplasia, Primary 21 0.033
660
CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 21 0.033
661
c SNR011 Senior-Loken Syndrome 3 20 0.033
662
c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 20 0.033
663
OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 20 0.033
664
SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 20 0.033
665
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 20 0.033
666
6QT002 6q Terminal Deletion Syndrome 20 0.033
667
OST151 Osteoporosis and Oculocutaneous Hypopigmentation Syndrome 20 0.033
668
PRT097 Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 20 0.033
669
SBR011 Subaortic Stenosis--Short Stature Syndrome 20 0.033
670
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 20 0.033
671
c PRX043 Peroxisome Biogenesis Disorder 6b 20 0.033
672
c PRR026 Perrault Syndrome 5 20 0.033
673
SPS192 Spastic Paraparesis and Deafness 20 0.033
674
NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 20 0.033
675
ENC046 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy 20 0.033
676
c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20 0.033
677
c SNR004 Senior-Loken Syndrome 4 19 0.033
678
c NGH024 Night Blindness, Congenital Stationary, Type 1h 19 0.033
679
c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 19 0.033
680
c NPH069 Nephronophthisis 15 19 0.033
681
CMB048 Combined Oxidative Phosphorylation Deficiency 15 19 0.033
682
c JBR039 Joubert Syndrome 28 19 0.033
683
c MCR214 Microphthalmia, Isolated, with Coloboma 9 19 0.033
684
SPN113 Spinocerebellar Ataxia with Dysmorphism 19 0.033
685
FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 19 0.033
686
c JBR014 Joubert Syndrome 9 19 0.033
687
LKN018 Leukoencephalopathy, Progressive, with Ovarian Failure 19 0.033
688
19P001 19p13.12 Microdeletion Syndrome 18 0.033
689
IMM130 Immunoneurologic Disorder, X-Linked 18 0.033
690
CMB015 Combined Oxidative Phosphorylation Deficiency 4 18 0.033
691
c JBR038 Joubert Syndrome 27 18 0.033
692
MTC079 Mitochondrial Pyruvate Carrier Deficiency 18 0.033
693
CRN224 Craniofaciofrontodigital Syndrome 18 0.033
694
PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 18 0.033
695
CNR030 Cone-Rod Dystrophy 20 18 0.033
696
HRL006 Harel-Yoon Syndrome 18 0.033
697
SPN353 Spondylometaphyseal Dysplasia, X-Linked 18 0.033
698
c INF044 Infantile Axonal Neuropathy 18 0.033
699
OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 18 0.033
700
6Q1001 6q16 Deletion Syndrome 18 0.033
701
c BSL032 Basal Ganglia Calcification, Idiopathic, 4 18 0.033
702
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 18 0.033
703
8P1001 8p11.2 Deletion Syndrome 18 0.033
704
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 18 0.033
705
CNG503 Congenital Heart Defects and Ectodermal Dysplasia 18 0.033
706
DST045 Distal Trisomy 6p 18 0.033
707
CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 18 0.033
708
MYC075 Myoclonus, Intractable, Neonatal 18 0.033
709
NRD027 Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset 18 0.033
710
CHR171 Choroideremia Hypopituitarism 17 0.033
711
c CRN068 Corneal Endothelial Dystrophy Type 2 17 0.033
712
MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 17 0.033
713
c SPN203 Spinocerebellar Ataxia, X-Linked 5 17 0.033
714
LKN009 Leukoencephalopathy with Metaphyseal Chondrodysplasia 17 0.033
715
AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 17 0.033
716
OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 17 0.033
717
c CRB095 Cerebral Palsy, Spastic Quadriplegic, 3 17 0.033
718
XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 17 0.033
719
INT313 Intellectual Developmental Disorder with Cardiac Arrhythmia 16 0.033
720
FRD013 Friedreich Ataxia and Congenital Glaucoma 16 0.033
721
CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 16 0.033
722
ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 16 0.033
723
ADT008 Auditory Neuropathy and Optic Atrophy 16 0.033
724
WLF014 Wolfram Syndrome, Mitochondrial Form 15 0.033
725
CHR644 Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 15 0.033
726
HYP722 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 15 0.033
727
LKN005 Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema 15 0.033
728
CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 15 0.033
729
LKD024 Leukodystrophy and Acquired Microcephaly with or Without Dystonia 15 0.033
730
OLV003 Olivopontocerebellar Atrophy Deafness 15 0.033
731
PRX084 Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia 14 0.033
732
CLB032 Coloboma of Macula and Skeletal Anomalies 14 0.033
733
ATX045 Ataxia-Microcephaly-Cataract Syndrome 14 0.033
734
TPT004 Tapetoretinal Degeneration with Ataxia 14 0.033
735
TRT021 Teratoma, Pineal 13 0.033
736
CHR365 Chromosome 2q31.1 Duplication Syndrome 13 0.033
737
SYR010 Syringomyelia, Noncommunicating Isolated 13 0.033
738
TRC107 Trichodermal Syndrome-Intellectual Disability Syndrome 13 0.033
739
ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 13 0.033
740
AMY100 Amyotrophic Dystonic Paraplegia 12 0.033
741
CTR179 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy 12 0.033
742
RDS002 Red Skin Pigment Anomaly of New Guinea 11 0.033
743
LRY052 Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 11 0.033
744
BRN130 Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 11 0.033
745
DYS199 Dystonia with Cerebellar Atrophy 11 0.033
746
DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 10 0.033
747
MSN012 Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities 10 0.033
748
CSK002 Cask-Related Intellectual Disability 9 0.033
749
c SYS001 Systemic Lupus Erythematosus 86 0.023
750
P MDL005 Medulloblastoma 76 0.023
751
P RTN024 Retinoblastoma 76 0.023
752
P MYS003 Myasthenia Gravis 73 0.023
753
ADR007 Adrenoleukodystrophy 72 0.023
754
P OST001 Osteopetrosis 70 0.023
755
P EPL164 Epilepsy 70 0.023
756
P LPS004 Lupus Erythematosus 69 0.023
757
P ORT004 Orthostatic Intolerance 68 0.023
758
c HRD010 Hereditary Spastic Paraplegia 68 0.023
759
P HMP002 Hemophagocytic Lymphohistiocytosis 67 0.023
760
OTT002 Otitis Media 67 0.023
761
P NRM001 Neuromyelitis Optica 67 0.023
762
ISC004 Ischemia 66 0.023
763
SND001 Sandhoff Disease 65 0.023
764
ADN018 Adenoma 63 0.023
765
P LNG028 Long Qt Syndrome 63 0.023
766
CRN036 Craniopharyngioma 63 0.023
767
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.023
768
CRD119 Cardiac Arrest 63 0.023
769
P PLC011 Pilocytic Astrocytoma 63 0.023
770
CHR619 Chromosome 2q35 Duplication Syndrome 62 0.023
771
MTR014 Motor Neuron Disease 62 0.023
772
P ANG001 Angelman Syndrome 61 0.023
773
THR024 Thrombosis 61 0.023
774
NRV006 Nervous System Cancer 61 0.023
775
P DYS154 Dystonia 61 0.023
776
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 61 0.023
777
c LNG044 Long Qt Syndrome 1 61 0.023
778
NRM005 Neuromuscular Disease 60 0.023
779
STT001 Status Epilepticus 60 0.023
780
P FCL005 Focal Segmental Glomerulosclerosis 60 0.023
781
CHR103 Charge Syndrome 59 0.023
782
UND005 Undifferentiated Pleomorphic Sarcoma 59 0.023
783
LMB002 Lambert-Eaton Myasthenic Syndrome 58 0.023
784
c ESS001 Essential Tremor 58 0.023
785
HMF006 Hemifacial Microsomia 58 0.023
786
c CRD093 Cardiomyopathy, Dilated, 1a 58 0.023
787
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.023
788
LKD001 Leukodystrophy 57 0.023
789
INC021 Incontinentia Pigmenti 57 0.023
790
P PTT006 Pituitary Adenoma 57 0.023
791
c EPS042 Episodic Ataxia, Type 1 57 0.023
792
ECT006 Ectodermal Dysplasia 57 0.023
793
P BRC006 Brachydactyly 57 0.023
794
P ZLL001 Zellweger Syndrome 56 0.023
795
P SCL018 Scoliosis 56 0.023
796
P ALP008 Alopecia 56 0.023
797
LYS002 Lysosomal Storage Disease 56 0.023
798
RTN209 Retinoschisis 1, X-Linked, Juvenile 56 0.023
799
P RTN016 Retinal Degeneration 56 0.023
800
P THY032 Thyroiditis 56 0.023
801
c BRD010 Bardet-Biedl Syndrome 1 56 0.023
802
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 56 0.023
803
P CNG001 Congenital Myasthenic Syndrome 55 0.023
804
ABL002 Ablepharon-Macrostomia Syndrome 55 0.023
805
KRT002 Keratomalacia 55 0.023
806
CLF001 Cleft Lip 54 0.023
807
P SNR003 Senior-Loken Syndrome 1 54 0.023
808
HYP080 Hypogonadism 54 0.023
809
P DDN001 Duodenal Ulcer 53 0.023
810
APR001 Apraxia 52 0.023
811
VTM028 Vitamin E, Familial Isolated Deficiency of 52 0.023
812
c SPN291 Spinocerebellar Ataxia 7 52 0.023
813
INN002 Inner Ear Disease 52 0.023
814
SPN020 Spondylosis 52 0.023
815
P ASP001 Asperger Syndrome 51 0.023
816
TRS021 Triosephosphate Isomerase Deficiency 51 0.023
817
ATN005 Autonomic Dysfunction 51 0.023
818
SRT004 Serotonin Syndrome 51 0.023
819
P OTT001 Otitis Externa 51 0.023
820
SPR010 Sporotrichosis 50 0.023
821
PLN006 Poland Syndrome 50 0.023
822
P PTS002 Ptosis 50 0.023
823
DNT005 Dentatorubral-Pallidoluysian Atrophy 50 0.023
824
P GNT009 Giant Axonal Neuropathy 50 0.023
825
CLF004 Cleft Lip/palate 49 0.023
826
c WLM018 Wilms Tumor 5 49 0.023
827
MLN065 Melanocytic Nevus Syndrome, Congenital 49 0.023
828
GRS011 Gerstmann-Straussler Disease 48 0.023
829
CRB027 Cerebellar Disease 48 0.023
830
P PRM001 Primary Cutaneous Amyloidosis 48 0.023
831
CHN016 Cohen Syndrome 48 0.023
832
CRN017 Coronary Thrombosis 48 0.023
833
CHR008 Choroiditis 47 0.023
834
c BRN108 Branchiootic Syndrome 1 47 0.023
835
P CLB034 Coloboma, Ocular, Autosomal Dominant 47 0.023
836
PTT004 Pituitary Apoplexy 47 0.023
837
c WRD020 Waardenburg Syndrome, Type 4a 46 0.023
838
c CRN139 Cornelia De Lange Syndrome 1 46 0.023
839
DDN006 Duodenitis 46 0.023
840
BRN003 Branchiooculofacial Syndrome 46 0.023
841
P HRD009 Hereditary Wilms' Tumor 46 0.023
842
AMB002 Amblyopia 45 0.023
843
CNR007 Cone-Rod Dystrophy 6 45 0.023
844
P CHR342 Chiari Malformation 45 0.023
845
OCL069 Ocular Motor Apraxia 45 0.023
846
c WLM011 Wilms Tumor 6 44 0.023
847
P FNG006 Feingold Syndrome 1 44 0.023
848
MLL002 Miller Fisher Syndrome 44 0.023
849
c ACR116 Aicardi-Goutieres Syndrome 1 43 0.023
850
P BRN035 Brain Stem Glioma 42 0.023
851
SCT002 Scotoma 42 0.023
852
P OPT070 Optic Nerve Hypoplasia, Bilateral 42 0.023
853
c DFN190 Deafness, Autosomal Dominant 2a 42 0.023
854
GLC004 Galactokinase Deficiency 42 0.023
855
CLB003 Coloboma of Optic Nerve 42 0.023
856
c HRM008 Hermansky-Pudlak Syndrome 5 41 0.023
857
c BRD033 Bardet-Biedl Syndrome 13 41 0.023
858
ADP007 Adie Pupil 41 0.023
859
c SPN265 Spinocerebellar Ataxia 36 41 0.023
860
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.023
861
BRB001 Beriberi 40 0.023
862
c DYS146 Dystonia 24 40 0.023
863
ACT011 Acute Contagious Conjunctivitis 40 0.023
864
MVM001 Movement Disease 40 0.023
865
NRX001 Neuroaxonal Dystrophy 40 0.023
866
P CLR001 Clear Cell Acanthoma 40 0.023
867
CVR010 Cavernous Malformation 40 0.023
868
CHR073 Choreatic Disease 40 0.023
869
PST055 Postural Hypotension 40 0.023
870
c DFN174 Deafness, Autosomal Recessive 44 40 0.023
871
OTM001 Otomycosis 39 0.023
872
c SZR022 Seizures, Benign Familial Neonatal, 1 39 0.023
873
WHP002 Whiplash 39 0.023
874
NRM006 Neuromuscular Junction Disease 39 0.023
875
CHR174 Christianson Syndrome 39 0.023
876
GST052 Gestational Choriocarcinoma 39 0.023
877
PCH002 Pachygyria 38 0.023
878
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 38 0.023
879
c LNG096 Long Qt Syndrome 15 38 0.023
880
c CRD104 Cardiomyopathy, Dilated, 1p 38 0.023
881
P BLD124 Bleeding Disorder, Platelet-Type, 11 38 0.023
882
c RTN069 Retinitis Pigmentosa 7 38 0.023
883
PRP028 Peripheral Vertigo 37 0.023
884
OBS004 Obstructive Hydrocephalus 37 0.023
885
c ACT037 Acute Dacryocystitis 36 0.023
886
P CMM008 Communicating Hydrocephalus 35 0.023
887
BSL004 Basilar Artery Occlusion 35 0.023
888
PRN039 Paraneoplastic Syndromes 35 0.023
889
BLP004 Blepharophimosis 34 0.023
890
BRN036 Brain Stem Infarction 34 0.023
891
CRT012 Cortical Blindness 34 0.023
892
SPS061 Spastic Paraplegia, Optic Atrophy, and Neuropathy 34 0.023
893
c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 33 0.023
894
c HRM009 Hermansky-Pudlak Syndrome 6 33 0.023
895
PRN032 Paraneoplastic Cerebellar Degeneration 33 0.023
896
MST019 Mastoiditis 33 0.023
897
P KNB001 Knobloch Syndrome 33 0.023
898
c RTN042 Retinitis Pigmentosa 12 33 0.023
899
P VTR010 Vitreoretinochoroidopathy 33 0.023
900
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 33 0.023
901
c ACT067 Acute Conjunctivitis 32 0.023
902
P SPS008 Spastic Ataxia 32 0.023
903
SPR126 Superior Semicircular Canal Dehiscence 32 0.023
904
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 31 0.023
905
EXT056 External Ear Disease 31 0.023
906
c SPS114 Spastic Paraplegia 45, Autosomal Recessive 31 0.023
907
PRM026 Primary Systemic Mycosis 31 0.023
908
ATX019 Ataxia with Vitamin E Deficiency 31 0.023
909
P VRT013 Vertigo, Benign Recurrent 31 0.023
910
HMF010 Hemifacial Microsomia with Radial Defects 31 0.023
911
VRT001 Vertebral Artery Occlusion 31 0.023
912
c ZLL011 Zellweger Spectrum Disorder 31 0.023
913
c LBR005 Leber Congenital Amaurosis 10 31 0.023
914
c NGH025 Night Blindness, Congenital Stationary, Type 2a 31 0.023
915
RDG001 Red-Green Color Blindness 30 0.023
916
MYC078 Myoclonus and Ataxia 30 0.023
917
c NRM008 Neuromyelitis Optica Spectrum Disorder 30 0.023
918
P HYP700 Hypomyelinating Leukodystrophy 30 0.023
919
P CXV002 Coxa Vara 30 0.023
920
MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 30 0.023
921
PRP093 Pierpont Syndrome 30 0.023
922
LKN010 Leukoencephalopathy with Dystonia and Motor Neuropathy 29 0.023
923
MRN009 Morning Glory Syndrome 28 0.023
924
c MYS011 Myasthenia Gravis Congenital 28 0.023
925
MGL033 Megalocornea-Mental Retardation Syndrome 28 0.023
926
c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 28 0.023
927
c HRM007 Hermansky-Pudlak Syndrome 4 28 0.023
928
c HRM011 Hermansky-Pudlak Syndrome 8 28 0.023
929
c ATS307 Autosomal Recessive Cerebellar Ataxia 27 0.023
930
OLG014 Oligocone Trichromacy 27 0.023
931
SPT019 Septo-Optic Dysplasia Spectrum 27 0.023
932
HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 27 0.023
933
RBS005 Ribose 5-Phosphate Isomerase Deficiency 27 0.023
934
c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 27 0.023
935
P SPN202 Spinocerebellar Ataxia, X-Linked 1 27 0.023
936
c MCR352 Microphthalmia, Isolated, with Coloboma 6 26 0.023
937
CNR014 Cone-Rod Dystrophy 16 26 0.023
938
c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 26 0.023
939
c FRN033 Frontonasal Dysplasia 2 25 0.023
940
BRN041 Bornholm Eye Disease 25 0.023
941
c OST136 Osteopetrosis, Autosomal Recessive 7 25 0.023
942
c MNT295 Mental Retardation, X-Linked, Syndromic 33 25 0.023
943
CRL001 Cerulean Cataract 25 0.023
944
c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 24 0.023
945
CRN266 Craniofacial Dyssynostosis with Short Stature 24 0.023
946
c ANT085 Anterior Segment Dysgenesis 5 24 0.023
947
DND013 Dandy-Walker Malformation with Postaxial Polydactyly 23 0.023
948
c OGC001 Oguchi Disease 1 23 0.023
949
CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23 0.023
950
MGL027 Megalocornea-Intellectual Disability Syndrome 22 0.023
951
GZP003 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 22 0.023
952
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 22 0.023
953
c ANR046 Aniridia 3 22 0.023
954
c NGH030 Night Blindness, Congenital Stationary, Type 1f 22 0.023
955
c MCR236 Microcephaly 13, Primary, Autosomal Recessive 21 0.023
956
c CLB022 Coloboma, Ocular, Autosomal Recessive 21 0.023
957
c SPS198 Spastic Paraplegia 16, X-Linked 21 0.023
958
CRB058 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 21 0.023
959
SHK001 Shaken Baby Syndrome 21 0.023
960
CLB011 Coloboma of Macula with Type B Brachydactyly 21 0.023
961
c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21 0.023
962
c CRD167 Cardiofaciocutaneous Syndrome 4 21 0.023
963
XLN162 X-Linked Intellectual Disability, Najm Type 21 0.023
964
c CRD164 Cardiofaciocutaneous Syndrome 3 21 0.023
965
c BMN004 Biemond Syndrome Ii 21 0.023
966
ANR043 Aniridia and Absent Patella 20 0.023
967
c LBR029 Leber Congenital Amaurosis 17 20 0.023
968
CRN083 Craniofacial Dyssynostosis 20 0.023
969
c LBR008 Leber Congenital Amaurosis 13 20 0.023
970
CRD170 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 20 0.023
971
c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 20 0.023
972
MCR286 Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome 20 0.023
973
CHR393 Chromosome 19p13.13 Deletion Syndrome 19 0.023
974
ISL019 Isolated Duane Retraction Syndrome 19 0.023
975
CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 19 0.023
976
RNS005 Rnase T2-Deficient Leukoencephalopathy 19 0.023
977
c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 19 0.023
978
ACC002 Accommodative Spasm 19 0.023
979
c SPS034 Spastic Paraplegia 26 18 0.023
980
UVL008 Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 18 0.023
981
SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 18 0.023
982
c OPT025 Optic Atrophy 6 18 0.023
983
RTN215 Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome 18 0.023
984
NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 17 0.023
985
c VTR009 Vitreoretinochoroidopathy Dominant 17 0.023
986
BRR001 Barre-Lieou Syndrome 16 0.023
987
c SPN420 Spinocerebellar Ataxia 46 16 0.023
988
FRN041 Frontonasal Dysplasia with Alopecia and Genital Anomaly 16 0.023
989
ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 16 0.023
990
P OGC002 Oguchi Disease 2 16 0.023
991
c EXD012 Exudative Vitreoretinopathy 7 16 0.023
992
c EPL215 Epileptic Encephalopathy, Early Infantile, 58 16 0.023
993
P CRB140 Cerebral Palsy, Spastic Quadriplegic, 2 16 0.023
994
c JBR043 Joubert Syndrome 32 16 0.023
995
STN014 Stankiewicz-Isidor Syndrome 15 0.023
996
MCR317 Macrophthalmia, Colobomatous, with Microcornea 15 0.023
997
c MNT294 Mental Retardation, X-Linked 106 15 0.023
998
c SPN419 Spinocerebellar Ataxia 45 15 0.023
999
GLL039 Galloway-Mowat Syndrome 2, X-Linked 14 0.023
1000
NRD025 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations 14 0.023
1001
BLD144 Blood Group System, Landsteiner-Wiener 14 0.023
1002
CMB078 Combined Oxidative Phosphorylation Deficiency 32 14 0.023
1003
SRS004 Serous Labyrinthitis 14 0.023
1004
NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures 13 0.023
1005
SPS209 Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy 13 0.023
1006
c JBR044 Joubert Syndrome 31 13 0.023
1007
ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 12 0.023
1008
CHR284 Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids 12 0.023
1009
FML327 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 11 0.023
1010
OPH016 Ophthalmoplegia, Familial Static 10 0.023
1011
HRD038 Harding Ataxia 9 0.023
1012
c MCR284 Microcephaly and Chorioretinopathy 3 6 0.023
1013
CNG272 Congenital Achiasma 5 0.023
1014
DMR001 De Morsier's Syndrome Information 3 0.023
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