Search results for "nystagmus"

The MalaCard for "nystagmus" has been retired.
Searching MalaCards for entries containing "nystagmus"

716 hits were found for 'nystagmus'

# Family MCID Name MIFTS Score
1
c CNG024 Congenital Nystagmus 45 4.404
2
XLN065 X-Linked Infantile Nystagmus 13 4.384
3
VST003 Vestibular Nystagmus 30 4.184
4
SPN033 Spontaneous Ocular Nystagmus 16 3.966
5
NYS007 Nystagmus, Hereditary Vertical 6 3.956
6
EPS008 Episodic Ataxia with Nystagmus 15 3.705
7
SPL021 Split Hand Split Foot Nystagmus 22 3.691
8
NHS001 Neuhauser Daly Magnelli Syndrome 13 3.652
9
FRM005 Frmd7-Related Infantile Nystagmus 11 3.652
10
c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 10 3.624
11
P NYS002 Nystagmus 1, Congenital, X- Linked 22 3.356
12
BNG018 Benign Paroxysmal Positional Nystagmus 35 3.309
13
c CNG161 Congenital Nystagmus 6, X-Linked 18 3.293
14
DSS005 Dissociated Nystagmus 13 3.285
15
c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 10 3.256
16
P NYS005 Nystagmus 4, Congenital, Autosomal Dominant 8 3.234
17
NYS008 Nystagmus, Myoclonic 5 3.234
18
P BMN001 Biemond Syndrome 22 2.829
19
PTH003 Pathologic Nystagmus 9 2.829
20
CHR165 Chorea, Remitting with Nystagmus and Cataracts 6 2.829
21
CTR020 Cataract, Microphthalmia and Nystagmus 2 2.804
22
LWR008 Lowry Wood Syndrome 25 2.345
23
HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 6 2.323
24
NYS006 Nystagmus, Congenital Motor, Autosomal Recessive 3 2.295
25
MNT193 Mental Retardation, with or Without Nystagmus 11 2.278
26
NYS015 Nystagmus, Infantile Periodic Alternating, X-Linked 9 2.278
27
c NYS012 Nystagmus 5, Congenital, X-Linked 6 2.278
28
c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 6 2.278
29
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 2 2.278
30
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 25 1.633
31
ODN003 O Donnell Pappas Syndrome 12 1.611
32
MNZ002 Manz Syndrome 8 1.611
33
MNT023 Mental Retardation Mietens Weber Type 7 1.611
34
MMN001 Maumenee Syndrome 4 1.611
35
SLN003 Silengo Lerone Pelizza Syndrome 4 1.611
36
SNG001 Singh Chhaparwal Dhanda Syndrome 4 1.611
37
c OPH004 Ophthalmoplegia 54 0.142
38
c ATX004 Ataxia 58 0.139
39
NRN002 Neuronitis 43 0.131
40
INT042 Internuclear Ophthalmoplegia 34 0.131
41
ALB002 Albinism 48 0.125
42
SPS087 Spasmus Nutans 21 0.119
43
P STR020 Strabismus 51 0.109
44
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 43 0.099
45
RTN023 Retinitis 53 0.091
46
BLN003 Blindness 52 0.091
47
SYN053 Syndromic Diarrhea 34 0.091
48
ANR002 Aniridia 64 0.087
49
c SPN068 Spinocerebellar Ataxia Type 6 56 0.082
50
P ATX002 Ataxia Telangiectasia 87 0.077
51
MTN003 Motion Sickness 55 0.077
52
OCL001 Ocular Albinism 51 0.077
53
VST001 Vestibular Neuronitis 30 0.077
54
P PLZ001 Pelizaeus-Merzbacher Disease 78 0.072
55
P OCL017 Oculocutaneous Albinism Type 1 60 0.072
56
EST005 Esotropia 42 0.072
57
HYP265 Hypotonia 40 0.072
58
OCL046 Ocular Albinism, Type I, Nettleship-Falls Type 30 0.072
59
SPT014 Septo-Optic Dysplasia 69 0.067
60
PTR006 Peters Plus Syndrome 68 0.067
61
P CRB042 Cerebellar Ataxia 62 0.067
62
c OCL002 Oculocutaneous Albinism 60 0.067
63
c SPN049 Spinocerebellar Ataxia 56 0.067
64
c OCL018 Oculocutaneous Albinism Type 2 55 0.067
65
AST006 Astigmatism 42 0.067
66
P BRD002 Bardet-Biedl Syndrome 73 0.061
67
P ANG001 Angelman Syndrome 71 0.061
68
c CTR002 Cataract 57 0.061
69
THR013 Thoracic Outlet Syndrome 52 0.061
70
BLC001 Blue Cone Monochromacy 51 0.061
71
RFR003 Refractive Error 47 0.061
72
P ATX010 Ataxia Neuropathy Spectrum 47 0.061
73
HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 40 0.061
74
P SCH023 Schindler Disease, Type 1 38 0.061
75
OCL016 Ocular Albinism, X-Linked 24 0.061
76
ANK002 Ankylosing Spondylitis 76 0.055
77
ACN002 Acanthosis Nigricans 64 0.055
78
ART019 Aortic Valve Stenosis 63 0.055
79
DWN001 Down Syndrome 61 0.055
80
NTR001 Neutral Lipid Storage Disease 59 0.055
81
P JBR004 Joubert Syndrome 2 57 0.055
82
P OP3001 Opa3-Related 3-Methylglutaconic Aciduria 57 0.055
83
c MNT147 Mental Retardation 56 0.055
84
ART001 Arterial Tortuosity Syndrome 55 0.055
85
c ACH003 Achromatopsia 54 0.055
86
CCH002 Coach Syndrome 54 0.055
87
AND003 Andersen-Tawil Syndrome 53 0.055
88
c EPS007 Episodic Ataxia Type 2 52 0.055
89
P ACH020 Achromatopsia 2 51 0.055
90
c EPS003 Episodic Ataxia 50 0.055
91
c GRS007 Griscelli Syndrome Type 1 48 0.055
92
c CNG010 Congenital Stationary Night Blindness 45 0.055
93
NNC002 Nance-Horan Syndrome 40 0.055
94
EXT022 Exotropia 39 0.055
95
c OCL035 Oculocutaneous Albinism Type 1b 33 0.055
96
c LBR004 Leber Congenital Amaurosis 1 32 0.055
97
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 30 0.055
98
c XLN012 X-Linked Congenital Stationary Night Blindness 29 0.055
99
LTR003 Lateral Medullary Syndrome 27 0.055
100
PRG075 Progressive Bifocal Chorioretinal Atrophy 26 0.055
101
FVL006 Foveal Hypoplasia 1 20 0.055
102
P RTN008 Retinitis Pigmentosa 86 0.047
103
SMT004 Smith-Lemli-Opitz Syndrome 84 0.047
104
OLV001 Olivopontocerebellar Atrophy 81 0.047
105
P RFS001 Refsum Disease 77 0.047
106
CHD001 Chediak-Higashi Syndrome 76 0.047
107
P AST007 Astrocytoma 72 0.047
108
P MGR002 Migraine 71 0.047
109
P WLF004 Wolfram Syndrome 71 0.047
110
c JBR001 Joubert Syndrome 69 0.047
111
c HYP086 Hypothyroidism 68 0.047
112
P LBR001 Leber Congenital Amaurosis 67 0.047
113
ALS001 Alstrom Syndrome 67 0.047
114
c ENC004 Encephalitis 65 0.047
115
MNR002 Meniere's Disease 63 0.047
116
P HLL001 Hallermann-Streiff Syndrome 60 0.047
117
MYC002 Mycobacterium Avium Complex Disease 58 0.047
118
P HRM005 Hermansky-Pudlak Syndrome 1 58 0.047
119
P CRV039 Cervicitis 57 0.047
120
BRJ001 Borjeson-Forssman-Lehmann Syndrome 57 0.047
121
SNS001 Sensorineural Hearing Loss 57 0.047
122
c LBR005 Leber Congenital Amaurosis 10 55 0.047
123
P FML165 Familial Hemiplegic Migraine Type 1 54 0.047
124
MNN014 Mononeuritis 51 0.047
125
c HMP006 Hemiplegic Migraine 50 0.047
126
1P3001 1p36 Deletion Syndrome 50 0.047
127
NRT004 Neuritis 49 0.047
128
P CRN139 Cornelia De Lange Syndrome 1 48 0.047
129
c NGH001 Night Blindness 48 0.047
130
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 46 0.047
131
JBR005 Joubert Syndrome with Ocular Anomalies 46 0.047
132
EVN001 Evans' Syndrome 45 0.047
133
P CLR019 Color Blindness 45 0.047
134
P SLD005 Sialidosis Type I 44 0.047
135
P CRN108 Cranioectodermal Dysplasia 1 42 0.047
136
GPS001 Gapo Syndrome 42 0.047
137
P ORF011 Orofaciodigital Syndrome 6 41 0.047
138
SPL040 Split Hand 40 0.047
139
JBR007 Joubert Syndrome with Renal Anomalies 38 0.047
140
c OCL019 Oculocutaneous Albinism Type 4 38 0.047
141
CRB009 Cerebritis 38 0.047
142
SPL039 Split Foot 37 0.047
143
P SPN108 Spinocerebellar Ataxia Autosomal Recessive 1 37 0.047
144
VCS001 Vici Syndrome 37 0.047
145
P MRN007 Marinesco-Sjögren Syndrome 35 0.047
146
ADS002 Adie Syndrome 35 0.047
147
INF047 Infantile Free Sialic Acid Storage Disease 34 0.047
148
KFM001 Kaufman Oculocerebrofacial Syndrome 34 0.047
149
CTR004 Cataract and Cardiomyopathy 34 0.047
150
c CRB059 Cerebellar Degeneration 34 0.047
151
DSM002 Desmosterolosis 33 0.047
152
P INF069 Infantile Neuroaxonal Dystrophy 1 33 0.047
153
OCL034 Oculocerebrocutaneous Syndrome 33 0.047
154
c OCL036 Oculocutaneous Albinism Type 3 32 0.047
155
c ATS004 Autosomal Dominant Microcephaly 32 0.047
156
PRD015 Proud Levine Carpenter Syndrome 31 0.047
157
P KNB003 Knobloch Syndrome Type I 31 0.047
158
OCL033 Oculocerebral Syndrome with Hypopigmentation 30 0.047
159
P BLP012 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 29 0.047
160
BHR001 Behr Syndrome 29 0.047
161
HNM002 Hinman Syndrome 28 0.047
162
c SPN104 Spinocerebellar Ataxia 34 28 0.047
163
15Q002 15q24 Microdeletion Syndrome 28 0.047
164
P MCR083 Microphthalmia Syndromic 6 28 0.047
165
RCH002 Richards-Rundle Syndrome 28 0.047
166
CNR008 Cone-Rod Dystrophy Amelogenesis Imperfecta 27 0.047
167
P SPS133 Spastic Paraplegia 2, X-Linked 27 0.047
168
P LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 27 0.047
169
MMS001 Momo Syndrome 27 0.047
170
HRD052 Hereditary Mucoepithelial Dysplasia 27 0.047
171
ALB005 Albinism Ocular Late Onset Sensorineural Deafness 26 0.047
172
PCW002 Pcwh Syndrome 26 0.047
173
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 25 0.047
174
VST004 Vestibular Disease 25 0.047
175
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 24 0.047
176
c LBR018 Leber Congenital Amaurosis 8 23 0.047
177
c LBR016 Leber Congenital Amaurosis 6 22 0.047
178
P HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 22 0.047
179
c BNG076 Benign Exophthalmos Syndrome 22 0.047
180
c LBR017 Leber Congenital Amaurosis 7 22 0.047
181
NRC016 Neuroectodermal Melanolysosomal Disease 22 0.047
182
c LBR006 Leber Congenital Amaurosis 11 21 0.047
183
AND005 Androgen Insensitivity Syndrome, Mild 21 0.047
184
VSL005 Visual Pathway Disease 21 0.047
185
TRC080 Trichomegaly - Retina Pigmentary Degeneration - Dwarfism 20 0.047
186
MCR224 Microcephaly and Chorioretinopathy with or Without Mental Retardation 20 0.047
187
CRB064 Cerebelloparenchymal Disorder 3 20 0.047
188
MYL017 Myelocerebellar Disorder 18 0.047
189
RTN167 Retinitis Pigmentosa - Intellectual Disability - Deafness - Hypogenitalism 17 0.047
190
MTN005 Mietens Syndrome 17 0.047
191
XLN125 X-Linked Intellectual Disability - Dysmorphism - Cerebral Atrophy 17 0.047
192
APL011 Aplasia Cutis Myopia 16 0.047
193
OCL056 Oculoosteocutaneous Syndrome 16 0.047
194
CTR091 Cataract - Nephropathy - Encephalopathy 16 0.047
195
FCL035 Facial Dysmorphism - Macrocephaly - Myopia - Dandy-Walker Malformation 15 0.047
196
CRB061 Cerebellar Hypoplasia Tapetoretinal Degeneration 15 0.047
197
c NGH019 Night Blindness, Congenital Stationary , 1a, X-Linked 13 0.047
198
SPS081 Spastic Ataxia with Congenital Miosis 11 0.047
199
P LVR011 Liver Cancer 90 0.039
200
VNH001 Von Hippel-Lindau Disease 81 0.039
201
P FRG001 Fragile X Syndrome 77 0.039
202
P ALX003 Alexander Disease 76 0.039
203
c OST001 Osteopetrosis 75 0.039
204
NRR002 Norrie Disease 74 0.039
205
P MLT007 Multiple Epiphyseal Dysplasia 74 0.039
206
MLT021 Multiple System Atrophy 73 0.039
207
P TMP003 Temporal Arteritis 72 0.039
208
OCL005 Oculocerebrorenal Syndrome 70 0.039
209
P MCH002 Machado-Joseph Disease 70 0.039
210
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 0.039
211
P LGH001 Leigh Disease 69 0.039
212
P HYD006 Hydrocephalus 69 0.039
213
P CCK003 Cockayne Syndrome Type Ii 69 0.039
214
P NNN008 Noonan Syndrome 1 68 0.039
215
P PRG006 Progressive Supranuclear Palsy 68 0.039
216
CHR452 Chorea-Acanthocytosis 67 0.039
217
ERD001 Erdheim-Chester Disease 67 0.039
218
c AMY001 Amyotrophic Lateral Sclerosis 66 0.039
219
CHR103 Charge Syndrome 65 0.039
220
RBR001 Roberts Syndrome 63 0.039
221
c AMY077 Amyotrophic Lateral Sclerosis Type 18 63 0.039
222
ARC007 Arachnoid Cysts 62 0.039
223
P CNG013 Congenital Disorder of Glycosylation Type I 62 0.039
224
ACR008 Acrocallosal Syndrome 61 0.039
225
P ALT001 Alternating Hemiplegia of Childhood 61 0.039
226
WLF002 Wolf-Hirschhorn Syndrome 61 0.039
227
NRP001 Neuropathy 61 0.039
228
HRT004 Hartnup Disease 60 0.039
229
WGR001 Wagr Syndrome 60 0.039
230
P AMY074 Amyotrophic Lateral Sclerosis Type 14 59 0.039
231
HWK001 Hawkinsinuria 59 0.039
232
P CFF001 Coffin-Siris Syndrome 59 0.039
233
CNR002 Cone-Rod Dystrophy 59 0.039
234
c FML023 Familial Hemiplegic Migraine 58 0.039
235
FRB001 Farber Lipogranulomatosis 58 0.039
236
c CNG124 Congenital Rubella 58 0.039
237
HDC001 Headache 57 0.039
238
P CNG021 Congenital Toxoplasmosis 57 0.039
239
c BRD014 Bardet-Biedl Syndrome 2 57 0.039
240
INC001 Incontinentia Pigmenti Achromians 56 0.039
241
SPN008 Spondyloepiphyseal Dysplasia Congenita 56 0.039
242
P OCL013 Oculodentodigital Dysplasia 56 0.039
243
P FNC025 Fanconi Anemia, Complementation Group J 55 0.039
244
P OTS001 Otosclerosis 55 0.039
245
HMM003 Hemimegalencephaly 54 0.039
246
HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 54 0.039
247
BLL001 Baller-Gerold Syndrome 54 0.039
248
PLR009 Pol Iii-Related Leukodystrophies 53 0.039
249
c USH012 Usher Syndrome, Type 2c 53 0.039
250
c TYR003 Tyrosinemia Type Ii 53 0.039
251
c HRD026 Hereditary Ataxia 53 0.039
252
NRN008 Neuronal Intranuclear Inclusion Disease 52 0.039
253
c CRD167 Cardiofaciocutaneous Syndrome 4 52 0.039
254
P USH004 Usher Syndrome Type 2a 52 0.039
255
ACR012 Aicardi Syndrome 51 0.039
256
CHN016 Cohen Syndrome 51 0.039
257
MLK003 Melkersson-Rosenthal Syndrome 51 0.039
258
P MWT001 Mowat-Wilson Syndrome 51 0.039
259
DBW001 Dubowitz Syndrome 51 0.039
260
WBR001 Weber Syndrome 50 0.039
261
ATX019 Ataxia with Vitamin E Deficiency 50 0.039
262
c JBR013 Joubert Syndrome 8 50 0.039
263
SCH016 Schimke Immunoosseous Dysplasia 48 0.039
264
MRS002 Marshall Syndrome 48 0.039
265
c CNG011 Congenital Disorder of Glycosylation Type Ii 47 0.039
266
ARS002 Arsacs 47 0.039
267
c MCL013 Mucolipidosis Iv 47 0.039
268
SPN050 Spinocerebellar Degeneration 46 0.039
269
ERL008 Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia 46 0.039
270
DYS018 Dysostosis 45 0.039
271
RNL029 Renal Coloboma Syndrome 45 0.039
272
OCL014 Oculofaciocardiodental Syndrome 45 0.039
273
MYC033 Myoclonus 44 0.039
274
ARC002 Arachnoiditis 44 0.039
275
P GM1001 Gm1 Gangliosidosis Type 1 44 0.039
276
TTR016 Tetra-Amelia Syndrome 43 0.039
277
c CTR098 Cataract 1, Multiple Types 43 0.039
278
P OST052 Osteopetrosis Autosomal Recessive 2 42 0.039
279
P PRX064 Peroxisome Biogenesis Disorder 2b 42 0.039
280
c PRX056 Peroxisome Biogenesis Disorder 11b 42 0.039
281
P CHR269 Chromosome 9p Deletion 41 0.039
282
PRS055 Pierson Syndrome 41 0.039
283
c MYP006 Myopia 41 0.039
284
MJD001 Majeed Syndrome 41 0.039
285
P BRD031 Bardet-Biedl Syndrome 1, Modifier of 41 0.039
286
CND005 Cone Dystrophy 41 0.039
287
MTC067 Metachromatic Leukodystrophy Due to Sap-B Deficiency 40 0.039
288
CHR174 Christianson Syndrome 40 0.039
289
WRN003 Wernicke Encephalopathy 40 0.039
290
DNR002 Duane-Radial Ray Syndrome 40 0.039
291
END060 Endolymphatic Hydrops 40 0.039
292
P DNS004 Duane Syndrome Type 2 40 0.039
293
ALN001 Aland Island Eye Disease 39 0.039
294
DVL002 Developmental Disabilities 39 0.039
295
CLB003 Coloboma of Optic Nerve 37 0.039
296
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 37 0.039
297
P KBK002 Kabuki Syndrome 1 37 0.039
298
HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 36 0.039
299
P PRR021 Perrault Syndrome 4 36 0.039
300
CGN006 Cogan Syndrome 35 0.039
301
c SPN074 Spinocerebellar Ataxia Type 13 34 0.039
302
BRK004 Barakat Syndrome 34 0.039
303
48X003 48,xxyy Syndrome 33 0.039
304
YNS001 Yunis Varon Syndrome 33 0.039
305
LKN007 Leukonychia Totalis 33 0.039
306
c ACH021 Achromatopsia 3 32 0.039
307
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 31 0.039
308
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 31 0.039
309
CRB055 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 31 0.039
310
HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 30 0.039
311
DNC004 Diencephalic Syndrome 29 0.039
312
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 29 0.039
313
c ORF012 Orofaciodigital Syndrome 8 29 0.039
314
DYS045 Dysosteosclerosis 28 0.039
315
P MCR132 Microphthalmia with Cataract 2 28 0.039
316
CNG049 Congenital Stromal Corneal Dystrophy 28 0.039
317
TFT003 Tufting Enteropathy 28 0.039
318
c SPN281 Spinocerebellar Ataxia Autosomal Recessive 7 28 0.039
319
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 28 0.039
320
SYN016 Syndactyly Cenani Lenz Type 27 0.039
321
c LBR012 Leber Congenital Amaurosis 2 26 0.039
322
JVN017 Juvenile Macular Degeneration and Hypotrichosis 26 0.039
323
GRL002 Gorlin Chaudhry Moss Syndrome 26 0.039
324
CRB026 Cerebellar Astrocytoma 25 0.039
325
BLP030 Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type 24 0.039
326
CRB029 Cerebellopontine Angle Tumor 24 0.039
327
c SPN177 Spinocerebellar Ataxia, Autosomal Recessive, 10 24 0.039
328
MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 24 0.039
329
LMB011 Limb Deficiencies Distal with Micrognathia 24 0.039
330
AGN008 Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia 24 0.039
331
CRN142 Corneal Endothelial Dystrophy and Perceptive Deafness 24 0.039
332
HYP299 Hyperostosis, Endosteal 23 0.039
333
CRN083 Craniofacial Dyssynostosis 23 0.039
334
HSH001 Hashimoto-Pritzker Syndrome 23 0.039
335
c FRN033 Frontonasal Dysplasia 2 22 0.039
336
16Q001 16q24.3 Microdeletion Syndrome 21 0.039
337
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 21 0.039
338
CDS002 Codas Syndrome 21 0.039
339
BLC014 Blue Cone Monochromatism 21 0.039
340
SPN257 Spinocerebellar Ataxia 29, Congenital Nonprogressive 21 0.039
341
SPN244 Spondylo-Ocular Syndrome 20 0.039
342
MGL027 Megalocornea-Intellectual Disability Syndrome 20 0.039
343
c ALB017 Albinism, Oculocutaneous, Type Vi 20 0.039
344
OCL011 Ocular Motility Disease 19 0.039
345
c SPN284 Spinocerebellar Ataxia 38 19 0.039
346
ERM001 Ermine Phenotype 19 0.039
347
c LKD010 Leukodystrophy, Hypomyelinating, 2 18 0.039
348
FVL005 Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 18 0.039
349
c DST045 Distal Trisomy 6p 18 0.039
350
HPT076 Hepatic Fibrosis - Renal Cysts - Intellectual Disability 17 0.039
351
SBR006 Subaortic Stenosis Short Stature Syndrome 17 0.039
352
c ACH023 Achromatopsia 4 17 0.039
353
P 19P001 19p13.12 Microdeletion Syndrome 17 0.039
354
NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 17 0.039
355
XLN077 X-Linked Immunoneurologic Disorder 17 0.039
356
c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 17 0.039
357
CTR007 Cataract Ataxia Deafness 17 0.039
358
8P1001 8p11.2 Deletion Syndrome 17 0.039
359
OCL032 Oculocerebral Hypopigmentation Syndrome Type Preus 17 0.039
360
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 17 0.039
361
SPN113 Spinocerebellar Ataxia with Dysmorphism 17 0.039
362
6Q1001 6q16 Deletion Syndrome 16 0.039
363
CDL001 Caudal Appendage Deafness 16 0.039
364
P INF044 Infantile Axonal Neuropathy 16 0.039
365
NSP011 Nasopalpebral Lipoma - Coloboma - Telecanthus 16 0.039
366
SHR076 Short Stature - Intellectual Disability - Eye Anomalies - Cleft Lip/palate 16 0.039
367
WLL007 Wells-Jankovic Syndrome 16 0.039
368
CTR138 Cataract - Intellectual Disability - Anal Atresia - Urinary Defects 15 0.039
369
VND003 Van Den Bosch Syndrome 15 0.039
370
ATX028 Ataxia-Deafness-Intellectual Disability Syndrome 15 0.039
371
CRB129 Cerebro-Reno-Digital Syndrome 15 0.039
372
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 14 0.039
373
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 14 0.039
374
CHR171 Choroideremia Hypopituitarism 14 0.039
375
PRP081 Paraplegia - Intellectual Disability - Hyperkeratosis 14 0.039
376
PLL010 Pellagra-Like Skin Rash - Neurological Manifestations 14 0.039
377
RTN038 Retinal Dysplasia X-Linked 14 0.039
378
AMR005 Amaurosis - Hypertrichosis 14 0.039
379
LRY043 Laryngeal Abductor Paralysis - Intellectual Disability 13 0.039
380
INT236 Intellectual Disability - Unusual Facies 13 0.039
381
FTL019 Fetal Iodine Syndrome 13 0.039
382
P SYN028 Syngnathia Multiple Anomalies 12 0.039
383
BNG068 Benign Paroxysmal Tonic Upgaze of Childhood with Ataxia 12 0.039
384
XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 12 0.039
385
OLV003 Olivopontocerebellar Atrophy Deafness 11 0.039
386
ATX020 Ataxia - Tapetoretinal Degeneration 11 0.039
387
TRC089 Trichodermal Syndrome - Intellectual Disability 10 0.039
388
DNN006 Duane Anomaly - Myopathy - Scoliosis 10 0.039
389
ARC014 Auriculoocular Anomalies - Cleft Lip 9 0.039
390
P KRB001 Krabbe Disease 84 0.027
391
P MYS003 Myasthenia Gravis 79 0.027
392
GLN003 Glanzmann's Thrombasthenia 76 0.027
393
GLL008 Gilles De La Tourette Syndrome 72 0.027
394
ALB001 Albright's Hereditary Osteodystrophy 72 0.027
395
P STR022 Stargardt Disease 71 0.027
396
ATS001 Autistic Disorder 70 0.027
397
P FRD001 Friedreich Ataxia 70 0.027
398
KLP002 Klippel-Trenaunay Syndrome 69 0.027
399
P CNV004 Canavan Disease 67 0.027
400
P CRD013 Cardiofaciocutaneous Syndrome 66 0.027
401
P WLM002 Wilms Tumor 66 0.027
402
TRN001 Transthyretin Amyloidosis 65 0.027
403
c SPN069 Spinocerebellar Ataxia Type 7 65 0.027
404
STT001 Status Epilepticus 65 0.027
405
ADN018 Adenoma 65 0.027
406
P DYS007 Dyskeratosis Congenita 65 0.027
407
SND001 Sandhoff Disease 64 0.027
408
KRN002 Kearns-Sayre Syndrome 63 0.027
409
CRY002 Cryptorchidism 63 0.027
410
MTC007 Mitochondrial Complex I Deficiency 63 0.027
411
ISC004 Ischemia 62 0.027
412
GLD001 Goldenhar Syndrome 62 0.027
413
CRN036 Craniopharyngioma 62 0.027
414
MVL001 Mevalonic Aciduria 62 0.027
415
PTT006 Pituitary Adenoma 61 0.027
416
DBF001 D-Bifunctional Protein Deficiency 61 0.027
417
PSY004 Psychotic Disorder 60 0.027
418
c GNG009 Gangliosidosis 59 0.027
419
ALP008 Alopecia 59 0.027
420
c HMP002 Hemophagocytic Lymphohistiocytosis 59 0.027
421
SPN020 Spondylosis 59 0.027
422
WRN002 Wernicke-Korsakoff Syndrome 59 0.027
423
CLF001 Cleft Lip 59 0.027
424
P GNT009 Giant Axonal Neuropathy 59 0.027
425
FCL009 Focal Dermal Hypoplasia 58 0.027
426
EYD002 Eye Disease 58 0.027
427
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 58 0.027
428
P NRM001 Neuromyelitis Optica 58 0.027
429
SRT004 Serotonin Syndrome 57 0.027
430
P DND001 Dandy-Walker Syndrome 57 0.027
431
BRN029 Brain Disease 57 0.027
432
CRN005 Craniofrontonasal Syndrome 57 0.027
433
SCN006 Secondary Syphilis 56 0.027
434
P SPR013 Spiradenoma 55 0.027
435
ECT006 Ectodermal Dysplasia 55 0.027
436
c TRM003 Tremor 55 0.027
437
c SPN077 Spinocerebellar Ataxia Type 17 54 0.027
438
c HRM001 Hermansky-Pudlak Syndrome 54 0.027
439
ASP001 Asperger Syndrome 54 0.027
440
CHR008 Choroiditis 53 0.027
441
PTT004 Pituitary Apoplexy 53 0.027
442
RHY001 Rhyns Syndrome 53 0.027
443
ALL001 Allan-Herndon-Dudley Syndrome 53 0.027
444
APP001 Apparent Mineralocorticoid Excess Syndrome 53 0.027
445
MCR013 Microphthalmia 53 0.027
446
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 53 0.027
447
HNT002 Hantavirus Pulmonary Syndrome 52 0.027
448
c WRD015 Waardenburg Syndrome Type Iva 52 0.027
449
c LKD001 Leukodystrophy 52 0.027
450
DNT005 Dentatorubral-Pallidoluysian Atrophy 52 0.027
451
P SLL003 Salla Disease 51 0.027
452
P PRP023 Peripheral Neuropathy 51 0.027
453
P L2H001 L-2-Hydroxyglutaric Aciduria 51 0.027
454
c CHR024 Charcot-Marie-Tooth Disease Type 3 51 0.027
455
c FML024 Familial Melanoma 51 0.027
456
c SYN001 Syndactyly 50 0.027
457
PSD014 Pseudopseudohypoparathyroidism 49 0.027
458
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 49 0.027
459
NRX001 Neuroaxonal Dystrophy 48 0.027
460
RTN018 Retinal Disease 48 0.027
461
P PSD065 Pseudo-Torch Syndrome 48 0.027
462
PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 48 0.027
463
c CNG224 Congenital Disorder of Glycosylation Type 1a 48 0.027
464
KRT002 Keratomalacia 47 0.027
465
BRN003 Branchiooculofacial Syndrome 47 0.027
466
AMB002 Amblyopia 46 0.027
467
FRN002 Frontal Lobe Epilepsy 46 0.027
468
MYK002 Myokymia 46 0.027
469
INF010 Infantile Onset Spinocerebellar Ataxia 45 0.027
470
P CNG165 Congenital Stationary Night Blindness, Autosomal Dominant 2 45 0.027
471
PST055 Postural Hypotension 45 0.027
472
DNR001 Duane Retraction Syndrome 45 0.027
473
OPT037 Optic Nerve Hypoplasia 45 0.027
474
c JVN024 Juvenile Hereditary Hemochromatosis 44 0.027
475
c RTN016 Retinal Degeneration 44 0.027
476
c XRD015 Xeroderma Pigmentosum, Group F 44 0.027
477
LSS007 Lissencephaly X-Linked 44 0.027
478
CRT012 Cortical Blindness 43 0.027
479
c CHR342 Chiari Malformation 43 0.027
480
OBS004 Obstructive Hydrocephalus 42 0.027
481
FRG008 Fragile X-Associated Tremor/ataxia Syndrome 42 0.027
482
P SPL033 Split-Hand/foot Malformation 6 42 0.027
483
PCH002 Pachygyria 42 0.027
484
c SPN075 Spinocerebellar Ataxia Type 14 42 0.027
485
P OPT015 Optic Atrophy Type 1 42 0.027
486
c CHR104 Chorea 42 0.027
487
c SPS092 Spastic Paraplegia 11 41 0.027
488
P BRN035 Brain Stem Glioma 41 0.027
489
BLT008 Bilateral Frontoparietal Polymicrogyria 41 0.027
490
c SPN076 Spinocerebellar Ataxia Type 15 40 0.027
491
PRP028 Peripheral Vertigo 40 0.027
492
c SPN280 Spinocerebellar Ataxia Type 5 40 0.027
493
P MSC109 Mosaic Variegated Aneuploidy Syndrome 1 40 0.027
494
18Q002 18q Deletion Syndrome 40 0.027
495
SCT002 Scotoma 40 0.027
496
P PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 39 0.027
497
MLY006 Molybdenum Cofactor Deficiency a 38 0.027
498
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 38 0.027
499
MLL002 Miller Fisher Syndrome 38 0.027
500
c SPN071 Spinocerebellar Ataxia Type 10 38 0.027
501
c SPS091 Spastic Paraplegia 4 37 0.027
502
c HRM006 Hermansky-Pudlak Syndrome 3 37 0.027
503
SPS057 Spasticity 37 0.027
504
P STS008 Sotos Syndrome 1 37 0.027
505
ART002 Arts Syndrome 37 0.027
506
P RTN079 Retinal Dystrophy, Early-Onset, Severe 36 0.027
507
FTT002 Fatty Acid Hydroxylase-Associated Neurodegeneration 36 0.027
508
IMM088 Immunodeficiency 36 36 0.027
509
c SPN079 Spinocerebellar Ataxia Type 28 36 0.027
510
c SPS025 Spastic Paraplegia 15 36 0.027
511
FML059 Familial Encephalopathy with Neuroserpin Inclusion Bodies 35 0.027
512
P LNZ001 Lenz Microphthalmia Syndrome 35 0.027
513
NNT023 Neonatal Progeroid Syndrome 35 0.027
514
ABL001 Ablepharon Macrostomia Syndrome 35 0.027
515
c SPL037 Split Hand Foot Malformation 35 0.027
516
P CHR454 Chiari Malformation Type 1 35 0.027
517
c MNT155 Mental Retardation, Autosomal Recessive 2 34 0.027
518
MPV001 Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 34 0.027
519
P CHN018 Chondrodysplasia Punctata 2, X-Linked 34 0.027
520
SHK001 Shaken Baby Syndrome 34 0.027
521
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 33 0.027
522
c CCK002 Cockayne Syndrome Type I 33 0.027
523
c SPN072 Spinocerebellar Ataxia Type 11 33 0.027
524
c MNN025 Mannosidosis, Alpha-, Types I and Ii 32 0.027
525
c SPN095 Spinocerebellar Ataxia 19 32 0.027
526
ADN022 Adenylosuccinase Deficiency 32 0.027
527
c HRM004 Hermansky Pudlak Syndrome 2 32 0.027
528
c CHR160 Chiari Malformation Type 2 32 0.027
529
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 31 0.027
530
LKN003 Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation 31 0.027
531
CRB027 Cerebellar Disease 31 0.027
532
P GLC030 Glaucoma, Congenital 31 0.027
533
c CHR119 Charcot-Marie-Tooth Neuropathy Type 4c 31 0.027
534
17Q004 17q12 Microdeletion Syndrome 30 0.027
535
ADT003 Auditory System Disease 30 0.027
536
NRP003 Neuropathy Ataxia Retinitis Pigmentosa Syndrome 30 0.027
537
MTH052 Methylmalonic Acidemia and Homocystinuria Cblc Type 30 0.027
538
P CHR348 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 30 0.027
539
P CMM008 Communicating Hydrocephalus 30 0.027
540
c SPN070 Spinocerebellar Ataxia Type 8 30 0.027
541
PNT009 Pontine Tegmental Cap Dysplasia 30 0.027
542
c OST051 Osteopetrosis Autosomal Recessive 1 29 0.027
543
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 29 0.027
544
PHG001 Phgdh Deficiency 29 0.027
545
c SPN078 Spinocerebellar Ataxia Type 20 29 0.027
546
MNT036 Mental Retardation X-Linked with Cerebellar Hypoplasia and Distinctive Facial Appearance 28 0.027
547
BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 28 0.027
548
MTC054 Mitochondrial Dna Depletion Syndrome 7 28 0.027
549
BSL004 Basilar Artery Occlusion 28 0.027
550
P VTR010 Vitreoretinochoroidopathy 28 0.027
551
c CNG205 Congenital Disorder of Glycosylation, Type Ij 28 0.027
552
WRD021 Waardenburg Syndrome/ocular Albinism, Digenic 28 0.027
553
JBR006 Joubert Syndrome with Oculorenal Anomalies 27 0.027
554
c PSD034 Pseudohypoparathyroidism Type 1c 27 0.027
555
OLG014 Oligocone Trichromacy 27 0.027
556
c SPN100 Spinocerebellar Ataxia 27 27 0.027
557
c SPS116 Spastic Paraplegia 26, Autosomal Recessive 27 0.027
558
c CTR102 Cataract 2, Multiple Types 27 0.027
559
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 27 0.027
560
c SPS080 Spastic Paraplegia 51 26 0.027
561
PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 26 0.027
562
HYP215 Hypomyelination with Atrophy of Basal Ganglia and Cerebellum 26 0.027
563
STR038 Striatonigral Degeneration Infantile 26 0.027
564
c LBR015 Leber Congenital Amaurosis 5 26 0.027
565
c OST057 Osteopetrosis Autosomal Recessive 7 26 0.027
566
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 26 0.027
567
c SPN094 Spinocerebellar Ataxia 18 26 0.027
568
c GCH013 Gaucher Disease, Type Iiic 26 0.027
569
c CNG200 Congenital Disorder of Glycosylation, Type Iq 25 0.027
570
INF129 Infantile Cerebellar-Retinal Degeneration 25 0.027
571
c SPS064 Spastic Paraplegia 45 25 0.027
572
c LBR014 Leber Congenital Amaurosis 4 25 0.027
573
GRS010 Gerstmann-Straussler-Scheinker Syndrome 25 0.027
574
RTN035 Retinal Cone Dystrophy 3b 25 0.027
575
AXL006 Axial Spondylometaphyseal Dysplasia 24 0.027
576
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 24 0.027
577
HMC024 Homocystinuria, Cbld Type, Variant 1 24 0.027
578
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 24 0.027
579
c SPN096 Spinocerebellar Ataxia 21 24 0.027
580
c LBR013 Leber Congenital Amaurosis 3 24 0.027
581
c LBR019 Leber Congenital Amaurosis 9 24 0.027
582
c SPN283 Spinocerebellar Ataxia 37 24 0.027
583
CMB012 Combined Oxidative Phosphorylation Deficiency 1 24 0.027
584
c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 24 0.027
585
c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 24 0.027
586
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 24 0.027
587
c HRM012 Hermansky-Pudlak Syndrome 9 24 0.027
588
CMB018 Combined Oxidative Phosphorylation Deficiency 7 23 0.027
589
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 23 0.027
590
c SPN103 Spinocerebellar Ataxia 31 23 0.027
591
c SPN202 Spinocerebellar Ataxia, X-Linked 1 23 0.027
592
PYR025 Pyruvate Dehydrogenase E2 Deficiency 23 0.027
593
c NRM008 Neuromyelitis Optica Spectrum Disorder 23 0.027
594
c OPT035 Optic Atrophy Type 7 23 0.027
595
c LBR007 Leber Congenital Amaurosis 12 23 0.027
596
BRN036 Brain Stem Infarction 23 0.027
597
c PNT030 Pontocerebellar Hypoplasia, Type 8 23 0.027
598
c PRG073 Progressive Myoclonic Epilepsy 5 23 0.027
599
c NPH053 Nephronophthisis 11 23 0.027
600
CMB015 Combined Oxidative Phosphorylation Deficiency 4 23 0.027
601
c SPN098 Spinocerebellar Ataxia 25 23 0.027
602
CRL001 Cerulean Cataract 22 0.027
603
c LBR010 Leber Congenital Amaurosis 15 22 0.027
604
c HYP534 Hypomagnesemia 3, Renal 22 0.027
605
CRB058 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 22 0.027
606
VRT001 Vertebral Artery Occlusion 22 0.027
607
LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 22 0.027
608
MCR163 Microphthalmia with Linear Skin Defects Syndrome 22 0.027
609
c SPN099 Spinocerebellar Ataxia 26 22 0.027
610
c ALB015 Albinism, Oculocutaneous, Type V 22 0.027
611
P TRC067 Trichothiodystrophy, Nonphotosensitive 1 21 0.027
612
MTC063 Mitochondrial Dna Depletion Syndrome 3 21 0.027
613
c PNT033 Pontocerebellar Hypoplasia, Type 10 21 0.027
614
c SPS136 Spastic Ataxia 3, Autosomal Recessive 21 0.027
615
PRM041 Primary Cortisol Resistance 21 0.027
616
CNR009 Cone-Rod Dystrophy X-Linked 1 20 0.027
617
P MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 20 0.027
618
SPN275 Spinocrebellar Ataxia, Autosomal Recessive 12 20 0.027
619
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 20 0.027
620
c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 20 0.027
621
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 20 0.027
622
URC006 Urocanase Deficiency 19 0.027
623
ALB018 Albinism, Oculocutaneous, Type Ii, Modifier of 19 0.027
624
c USH026 Usher Syndrome Type 3b 19 0.027
625
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 19 0.027
626
CRB081 Cerebellar Ataxia, Cayman Type 19 0.027
627
CNG201 Congenital Disorder of Glycosylation, Type Iij 19 0.027
628
RDG001 Red-Green Color Blindness 19 0.027
629
c SPN102 Spinocerebellar Ataxia 30 19 0.027
630
MTC088 Mitochondrial Dna Depletion Syndrome 13 19 0.027
631
c ALB016 Albinism, Oculocutaneous, Type Vii 19 0.027
632
c JBR024 Joubert Syndrome 14 19 0.027
633
CNG389 Congenital Disorder of Glycosylation, Type Iim 19 0.027
634
DND013 Dandy-Walker Malformation with Postaxial Polydactyly 19 0.027
635
c LBR011 Leber Congenital Amaurosis 16 19 0.027
636
c EPS009 Episodic Ataxia Type 5 19 0.027
637
c XLN105 X-Linked Spastic Paraplegia Type 16 18 0.027
638
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 18 0.027
639
CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 18 0.027
640
c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 18 0.027
641
c ATX016 Ataxia, Spastic, 4 18 0.027
642
MLY005 Molybdenum Cofactor Deficiency B 18 0.027
643
MCR042 Microbrachycephaly Ptosis Cleft Lip 18 0.027
644
c PRX059 Peroxisome Biogenesis Disorder 1a 18 0.027
645
c SNR004 Senior-Loken Syndrome 4 18 0.027
646
c SPS142 Spastic Ataxia 2, Autosomal Recessive 18 0.027
647
OTP003 Oto-Palatal-Digital Syndrome 17 0.027
648
HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 17 0.027
649
CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 17 0.027
650
HYP213 Hypomelanotic Disorder 17 0.027
651
CMB048 Combined Oxidative Phosphorylation Deficiency 15 17 0.027
652
c LKD008 Leukodystrophy, Hypomyelinating, 4 17 0.027
653
c MNT213 Mental Retardation, Autosomal Recessive 40 17 0.027
654
BSC005 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 17 0.027
655
c WRB004 Warburg Micro Syndrome 3 17 0.027
656
c EXD004 Exudative Vitreoretinopathy 4 16 0.027
657
SPN126 Spondyloepimetaphyseal Dysplasia Genevieve Type 16 0.027
658
MCR110 Microphthalmia with Coloboma 6, Digenic 16 0.027
659
c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 16 0.027
660
ACC002 Accommodative Spasm 16 0.027
661
EPL015 Epilepsy, Rolandic with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 16 0.027
662
NRX004 Neuroaxonal Neurodegeneration, Infantile, with Facial Dysmophism 16 0.027
663
LKN009 Leukoencephalopathy with Metaphyseal Chondrodysplasia 16 0.027
664
P INT105 Intellectual Disability Multi-Gene Panels 16 0.027
665
SPN235 Spondylometaphyseal Dysplasia, Golden Type 15 0.027
666
c PRR020 Perrault Syndrome 1 15 0.027
667
c CTR130 Cataract 9, Multiple Types 15 0.027
668
XLN036 X-Linked Leigh Syndrome 15 0.027
669
PRT101 Poretti-Boltshauser Syndrome 15 0.027
670
c RTN151 Retinitis Pigmentosa 64 15 0.027
671
c MCR228 Microphthalmia, Syndromic 13 15 0.027
672
WRD025 Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 15 0.027
673
c ATS031 Autosomal Recessive Cerebellar Ataxia Type 1 15 0.027
674
OCL048 Oculoauricular Syndrome 15 0.027
675
c JBR014 Joubert Syndrome 9 15 0.027
676
NRD013 Neurodegeneration with Optic Atrophy, Childhood Onset 15 0.027
677
c EPS025 Episodic Ataxia Type 4 15 0.027
678
c JBR011 Joubert Syndrome 7 15 0.027
679
CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 14 0.027
680
c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 14 0.027
681
ENC023 Encephalopahty, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 14 0.027
682
OCL054 Ocular Motor Apraxia, Cogan Type 14 0.027
683
c NPH069 Nephronophthisis 15 14 0.027
684
c ACR081 Aicardi-Goutieres Syndrome 6 14 0.027
685
CND012 Cone Dystrophy 4 13 0.027
686
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 13 0.027
687
c BSL032 Basal Ganglia Calcification, Idiopathic, 4 13 0.027
688
P CRB100 Cerebrooculofacioskeletal Syndrome 4 13 0.027
689
c NGH016 Night Blindness, Congenital Stationary , 1c, Autosomal Recessive 13 0.027
690
c NGH018 Night Blindness, Congenital Stationary , 1e, Autosomal Recessive 12 0.027
691
c SCL045 Sclerosteosis 1 12 0.027
692
c NGH017 Night Blindness, Congenital Stationary , 1d, Autosomal Recessive 12 0.027
693
SPR038 Supranuclear Ocular Palsy 12 0.027
694
DPH008 Diphenylhydantoin Toxicity 12 0.027
695
c SNR011 Senior-Loken Syndrome 3 12 0.027
696
XLN082 X-Linked Non Progressive Cerebellar Ataxia 12 0.027
697
MTC079 Mitochondrial Pyruvate Carrier Deficiency 12 0.027
698
c NGH015 Night Blindness, Congenital Stationary , 2b, Autosomal Recessive 12 0.027
699
MCL050 Macular Coloboma - Cleft Palate - Hallux Valgus 11 0.027
700
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 11 0.027
701
MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 11 0.027
702
BRW008 Brown-Vialetto-Van Laere Syndrome 2 11 0.027
703
PRT097 Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 11 0.027
704
XLN120 X-Linked Intellectual Disability, Brooks Type 11 0.027
705
P ATX024 Ataxia-Oculomotor Apraxia 3 10 0.027
706
LKN018 Leukoencephalopathy, Progressive, with Ovarian Failure 10 0.027
707
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 10 0.027
708
RTN084 Retinal Cone Dystrophy 3 8 0.027
709
MTC092 Mitochondrial Complex Deficiency, Nuclear Type 4 8 0.027
710
c CRB108 Cerebral Palsy, Ataxic, Autosomal Recessive 8 0.027
711
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 7 0.027
712
RDS002 Red Skin Pigment Anomaly of New Guinea 7 0.027
713
BRR001 Barre-Lieou Syndrome 7 0.027
714
c CSK002 Cask-Related Intellectual Disability 6 0.027
715
CHR284 Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids 5 0.027
716
CNG272 Congenital Achiasma 5 0.027