Search results for "nystagmus"

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

709 hits were found for 'nystagmus'

# Family MCID Name MIFTS Score
1
P XLN065 X-Linked Infantile Nystagmus 19 4.698
2
c NYS017 Nystagmus 1, Congenital, X-Linked 23 4.095
3
P CNG024 Congenital Nystagmus 40 4.035
4
VST003 Vestibular Nystagmus 25 3.804
5
SPL021 Split Hand Split Foot Nystagmus 20 3.702
6
FBR023 Fibrinogen Deficiency, Congenital 14 3.644
7
SPN033 Spontaneous Ocular Nystagmus 12 3.635
8
c FRM005 Frmd7-Related Infantile Nystagmus 11 3.322
9
c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 16 3.315
10
c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 14 3.315
11
c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 13 3.315
12
c NYS013 Nystagmus 6, Congenital, X-Linked 16 3.301
13
NYS007 Nystagmus, Hereditary Vertical 5 3.249
14
DSS005 Dissociated Nystagmus 9 2.869
15
LWR008 Lowry Wood Syndrome 21 2.843
16
P BMN001 Biemond Syndrome 20 2.822
17
NYS008 Nystagmus, Myoclonic 4 2.822
18
c EPS035 Episodic Ataxia, Type 2 48 2.419
19
BNG018 Benign Paroxysmal Positional Nystagmus 28 2.391
20
c NYS012 Nystagmus 5, Congenital, X-Linked 13 2.375
21
PTH003 Pathologic Nystagmus 8 2.349
22
CHR165 Chorea, Remitting with Nystagmus and Cataracts 5 2.339
23
c MCR132 Microphthalmia with Cataract 2 13 2.304
24
c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 12 1.724
25
HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 5 1.685
26
MTN006 Mietens-Weber Syndrome 18 1.661
27
NYS006 Nystagmus, Congenital Motor, Autosomal Recessive 3 1.661
28
ODN003 O Donnell Pappas Syndrome 18 1.647
29
ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 4 1.647
30
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 2 1.647
31
FGS004 Fg Syndrome 4 21 1.607
32
MNZ002 Manz Syndrome 7 1.607
33
MMN001 Maumenee Syndrome 4 1.607
34
SLN003 Silengo Lerone Pelizza Syndrome 3 1.607
35
SNG001 Singh Chhaparwal Dhanda Syndrome 3 1.607
36
P ATX004 Ataxia 50 0.143
37
P OPH004 Ophthalmoplegia 47 0.143
38
INT042 Internuclear Ophthalmoplegia 28 0.132
39
P STR020 Strabismus 44 0.124
40
ALB002 Albinism 43 0.124
41
NRN002 Neuronitis 36 0.124
42
SPS087 Spasmus Nutans 20 0.118
43
P TRC086 Trichohepatoenteric Syndrome 1 39 0.108
44
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 38 0.093
45
P BLN003 Blindness 47 0.089
46
RTN023 Retinitis 44 0.089
47
AST006 Astigmatism 35 0.089
48
P ANG001 Angelman Syndrome 66 0.085
49
c SPN225 Spondyloarthropathy 1 48 0.081
50
c ART101 Aortic Valve Disease 2 32 0.081
51
VST001 Vestibular Neuronitis 25 0.081
52
P ATX030 Ataxia-Telangiectasia 76 0.076
53
ANR002 Aniridia 61 0.076
54
MYC002 Mycobacterium Avium Complex Disease 51 0.076
55
OCL001 Ocular Albinism 47 0.076
56
MTN003 Motion Sickness 47 0.076
57
ADS002 Adie Syndrome 30 0.076
58
HNM002 Hinman Syndrome 26 0.076
59
c BNG076 Benign Exophthalmos Syndrome 19 0.076
60
AND005 Androgen Insensitivity Syndrome, Mild 17 0.076
61
c AMY091 Amyotrophic Lateral Sclerosis 1 82 0.071
62
P SPN049 Spinocerebellar Ataxia 53 0.071
63
c ALB009 Albinism, Oculocutaneous, Type Ia 36 0.071
64
P HYP265 Hypotonia 34 0.071
65
EST005 Esotropia 34 0.071
66
OCL016 Ocular Albinism, X-Linked 28 0.071
67
PTR006 Peters Anomaly 65 0.066
68
P CRB042 Cerebellar Ataxia 54 0.066
69
P OCL002 Oculocutaneous Albinism 50 0.066
70
c ALB021 Albinism, Oculocutaneous, Type Ii 40 0.066
71
BLC001 Blue Cone Monochromacy 40 0.066
72
P PLZ001 Pelizaeus-Merzbacher Disease 65 0.060
73
P LBR001 Leber Congenital Amaurosis 58 0.060
74
P HMP006 Hemiplegic Migraine 50 0.060
75
THR013 Thoracic Outlet Syndrome 45 0.060
76
RFR003 Refractive Error 40 0.060
77
P XLN012 X-Linked Congenital Stationary Night Blindness 27 0.060
78
P BRD002 Bardet-Biedl Syndrome 65 0.054
79
P HYP086 Hypothyroidism 59 0.054
80
ACN002 Acanthosis Nigricans 55 0.054
81
P AND016 Andersen Syndrome 54 0.054
82
DWN001 Down Syndrome 51 0.054
83
P CTR002 Cataract 50 0.054
84
P ACH003 Achromatopsia 49 0.054
85
ART001 Arterial Tortuosity Syndrome 48 0.054
86
CCH002 Coach Syndrome 48 0.054
87
JLL001 Jalili Syndrome 37 0.054
88
NNC002 Nance-Horan Syndrome 36 0.054
89
WRD021 Waardenburg Syndrome/ocular Albinism, Digenic 34 0.054
90
EXT022 Exotropia 32 0.054
91
c LBR004 Leber Congenital Amaurosis 1 29 0.054
92
P ATX010 Ataxia Neuropathy Spectrum 29 0.054
93
P CRB059 Cerebellar Degeneration 29 0.054
94
c ALB010 Albinism, Oculocutaneous, Type Ib 28 0.054
95
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 28 0.054
96
LTR003 Lateral Medullary Syndrome 23 0.054
97
CHR167 Chorioretinal Atrophy, Progressive Bifocal 18 0.054
98
SMT004 Smith-Lemli-Opitz Syndrome 74 0.047
99
P RTN008 Retinitis Pigmentosa 72 0.047
100
CHD001 Chediak-Higashi Syndrome 66 0.047
101
P CRD013 Cardiofaciocutaneous Syndrome 65 0.047
102
MGR002 Migraine 64 0.047
103
P RFS001 Refsum Disease 63 0.047
104
P AST007 Astrocytoma 63 0.047
105
P WLF004 Wolfram Syndrome 61 0.047
106
P HRM001 Hermansky-Pudlak Syndrome 60 0.047
107
ALS001 Alstrom Syndrome 58 0.047
108
P ENC004 Encephalitis 56 0.047
109
c JBR020 Joubert Syndrome 1 54 0.047
110
MNR002 Meniere's Disease 53 0.047
111
P CFF001 Coffin-Siris Syndrome 53 0.047
112
P HLL001 Hallermann-Streiff Syndrome 52 0.047
113
BRJ001 Borjeson-Forssman-Lehmann Syndrome 50 0.047
114
CHN055 Chanarin-Dorfman Syndrome 50 0.047
115
P CRV039 Cervicitis 49 0.047
116
SNS001 Sensorineural Hearing Loss 48 0.047
117
P MNT147 Mental Retardation 46 0.047
118
SCH016 Schimke Immunoosseous Dysplasia 46 0.047
119
ACR012 Aicardi Syndrome 46 0.047
120
P EPS003 Episodic Ataxia 45 0.047
121
P DNR001 Duane Retraction Syndrome 44 0.047
122
c HRD026 Hereditary Ataxia 44 0.047
123
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 44 0.047
124
P CNG010 Congenital Stationary Night Blindness 44 0.047
125
CND005 Cone Dystrophy 43 0.047
126
P SLD010 Sialidosis, Type I 43 0.047
127
MNN014 Mononeuritis 43 0.047
128
P NGH001 Night Blindness 42 0.047
129
NRT004 Neuritis 40 0.047
130
P CRN108 Cranioectodermal Dysplasia 1 40 0.047
131
EVN001 Evans' Syndrome 39 0.047
132
MYC033 Myoclonus 39 0.047
133
P MRN003 Marinesco-Sjogren Syndrome 38 0.047
134
P CLR019 Color Blindness 38 0.047
135
GPS001 Gapo Syndrome 37 0.047
136
c ORF034 Orofaciodigital Syndrome Vi 36 0.047
137
P BLP032 Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 36 0.047
138
TTR016 Tetra-Amelia Syndrome 36 0.047
139
c MCR263 Microphthalmia, Syndromic 1 35 0.047
140
SPL040 Split Hand 35 0.047
141
c SPN309 Spinocerebellar Ataxia 6 34 0.047
142
SPL039 Split Foot 33 0.047
143
CRB009 Cerebritis 33 0.047
144
VCS001 Vici Syndrome 33 0.047
145
ATX015 Ataxia-Ocular Apraxia-2 32 0.047
146
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 32 0.047
147
SNG007 Sengers Syndrome 32 0.047
148
DSM002 Desmosterolosis 30 0.047
149
OCL034 Oculocerebrocutaneous Syndrome 29 0.047
150
c SCH069 Schindler Disease, Type I 29 0.047
151
c ALB019 Albinism, Oculocutaneous, Type Iv 26 0.047
152
TFT003 Tufting Enteropathy 26 0.047
153
c MCR251 Microphthalmia, Syndromic 6 26 0.047
154
c ALB020 Albinism, Oculocutaneous, Type Iii 26 0.047
155
OCL033 Oculocerebral Syndrome with Hypopigmentation 25 0.047
156
c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 24 0.047
157
BHR001 Behr Syndrome 24 0.047
158
c SPN104 Spinocerebellar Ataxia 34 24 0.047
159
HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 23 0.047
160
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 23 0.047
161
c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 21 0.047
162
c LBR018 Leber Congenital Amaurosis 8 21 0.047
163
VST004 Vestibular Disease 21 0.047
164
c LBR016 Leber Congenital Amaurosis 6 21 0.047
165
c LBR017 Leber Congenital Amaurosis 7 20 0.047
166
c LBR006 Leber Congenital Amaurosis 11 20 0.047
167
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 20 0.047
168
c NGH019 Night Blindness, Congenital Stationary , 1a, X-Linked 19 0.047
169
NRC016 Neuroectodermal Melanolysosomal Disease 17 0.047
170
CRM007 Crome Syndrome 15 0.047
171
VSL005 Visual Pathway Disease 15 0.047
172
MYL017 Myelocerebellar Disorder 15 0.047
173
HPT023 Hepatocellular Carcinoma 95 0.038
174
P MTC003 Metachromatic Leukodystrophy 76 0.038
175
MLT021 Multiple System Atrophy 70 0.038
176
c FNC027 Fanconi Anemia, Complementation Group a 68 0.038
177
P ALX003 Alexander Disease 66 0.038
178
P NNN008 Noonan Syndrome 1 66 0.038
179
P FRG001 Fragile X Syndrome 66 0.038
180
P LGH007 Leigh Syndrome 65 0.038
181
VNH007 Von Hippel-Lindau Syndrome 65 0.038
182
NRR002 Norrie Disease 65 0.038
183
P OST001 Osteopetrosis 65 0.038
184
P TMP003 Temporal Arteritis 62 0.038
185
P MCH002 Machado-Joseph Disease 61 0.038
186
P KLL001 Kallmann Syndrome 60 0.038
187
ERD001 Erdheim-Chester Disease 58 0.038
188
P CRN015 Cornelia De Lange Syndrome 57 0.038
189
WGR001 Wagr Syndrome 57 0.038
190
P MLT007 Multiple Epiphyseal Dysplasia 57 0.038
191
CNR002 Cone-Rod Dystrophy 56 0.038
192
P HYD006 Hydrocephalus 56 0.038
193
P USH001 Usher Syndrome 55 0.038
194
BSL036 Basal Cell Nevus Syndrome 55 0.038
195
ACR008 Acrocallosal Syndrome 55 0.038
196
P ALT001 Alternating Hemiplegia of Childhood 54 0.038
197
c GNG001 Gangliosidosis Gm1 54 0.038
198
P ACR001 Aicardi-Goutieres Syndrome 54 0.038
199
RBR001 Roberts Syndrome 53 0.038
200
P NRP001 Neuropathy 52 0.038
201
FRB001 Farber Lipogranulomatosis 51 0.038
202
OCL005 Oculocerebrorenal Syndrome 51 0.038
203
c CNG124 Congenital Rubella 51 0.038
204
HDC001 Headache 50 0.038
205
c CNG021 Congenital Toxoplasmosis 50 0.038
206
P OCL013 Oculodentodigital Dysplasia 49 0.038
207
HMM003 Hemimegalencephaly 49 0.038
208
DJR004 Dejerine-Sottas Disease 49 0.038
209
ARC007 Arachnoid Cysts 49 0.038
210
c BRD010 Bardet-Biedl Syndrome 1 48 0.038
211
c FML023 Familial Hemiplegic Migraine 48 0.038
212
P DND001 Dandy-Walker Syndrome 48 0.038
213
c SPN294 Spinocerebellar Ataxia 1 47 0.038
214
BLL001 Baller-Gerold Syndrome 47 0.038
215
c USH032 Usher Syndrome, Type 2a 47 0.038
216
HRT031 Hartnup Disorder 46 0.038
217
P OTS001 Otosclerosis 46 0.038
218
c TYR013 Tyrosinemia, Type Ii 46 0.038
219
P GRS003 Griscelli Syndrome 45 0.038
220
P MWT001 Mowat-Wilson Syndrome 45 0.038
221
NRN008 Neuronal Intranuclear Inclusion Disease 44 0.038
222
WBR001 Weber Syndrome 44 0.038
223
MLK003 Melkersson-Rosenthal Syndrome 44 0.038
224
DBW001 Dubowitz Syndrome 43 0.038
225
KLP010 Klippel-Trenaunay-Weber Syndrome 43 0.038
226
MRS002 Marshall Syndrome 43 0.038
227
ATX019 Ataxia with Vitamin E Deficiency 42 0.038
228
P KBK002 Kabuki Syndrome 1 42 0.038
229
c PRX045 Peroxisome Biogenesis Disorder 1b 42 0.038
230
NNT017 Neonatal Adrenoleukodystrophy 42 0.038
231
P PRR025 Perrault Syndrome 41 0.038
232
1P3001 1p36 Deletion Syndrome 41 0.038
233
c MCL013 Mucolipidosis Iv 41 0.038
234
P MYP006 Myopia 41 0.038
235
AMB002 Amblyopia 39 0.038
236
ARC002 Arachnoiditis 39 0.038
237
CHR105 Choreoacanthocytosis 38 0.038
238
DYS018 Dysostosis 38 0.038
239
PPL048 Papillorenal Syndrome 38 0.038
240
SPN050 Spinocerebellar Degeneration 37 0.038
241
P CNG206 Congenital Disorder of Glycosylation, Type Ie 37 0.038
242
c OST137 Osteopetrosis, Autosomal Recessive 4 36 0.038
243
P SCH017 Schindler Disease 36 0.038
244
JBR006 Joubert Syndrome with Oculorenal Anomalies 36 0.038
245
INC001 Incontinentia Pigmenti Achromians 36 0.038
246
c INF069 Infantile Neuroaxonal Dystrophy 1 36 0.038
247
PRS055 Pierson Syndrome 36 0.038
248
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 35 0.038
249
WRN003 Wernicke Encephalopathy 35 0.038
250
END060 Endolymphatic Hydrops 34 0.038
251
XLN003 X-Linked Sideroblastic Anemia with Ataxia 34 0.038
252
SDC002 Sed Congenita 34 0.038
253
ALN001 Aland Island Eye Disease 34 0.038
254
c SPN304 Spinocerebellar Ataxia 8 34 0.038
255
c SPS079 Spastic Paraplegia 2 33 0.038
256
CHR174 Christianson Syndrome 33 0.038
257
DVL002 Developmental Disabilities 33 0.038
258
FRS004 Free Sialic Acid Storage Disorders 32 0.038
259
JBR005 Joubert Syndrome with Ocular Anomalies 31 0.038
260
HYP291 Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 31 0.038
261
CGN006 Cogan Syndrome 31 0.038
262
c SPN311 Spinocerebellar Ataxia 13 31 0.038
263
ACR059 Acro-Renal-Ocular Syndrome 30 0.038
264
HYP299 Hyperostosis, Endosteal 30 0.038
265
P KNB001 Knobloch Syndrome 30 0.038
266
CTR014 Cataract Microcornea Syndrome 30 0.038
267
LRN001 Laurence-Moon Syndrome 30 0.038
268
48X003 48,xxyy Syndrome 29 0.038
269
YNS002 Yunis-Varon Syndrome 29 0.038
270
HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 29 0.038
271
c GRS013 Griscelli Syndrome, Type 1 28 0.038
272
KFM001 Kaufman Oculocerebrofacial Syndrome 28 0.038
273
CHR518 Chromosome 9p Deletion Syndrome 28 0.038
274
HMC036 Homocystinuria Without Methylmalonic Aciduria 27 0.038
275
CRB055 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 27 0.038
276
JBR007 Joubert Syndrome with Renal Anomalies 27 0.038
277
MRN009 Morning Glory Syndrome 26 0.038
278
LKN007 Leukonychia Totalis 26 0.038
279
DNC004 Diencephalic Syndrome 26 0.038
280
GZP002 Gaze Palsy, Horizontal, with Progressive Scoliosis 25 0.038
281
c LBR012 Leber Congenital Amaurosis 2 25 0.038
282
c ORF012 Orofaciodigital Syndrome 8 25 0.038
283
c ATS004 Autosomal Dominant Microcephaly 25 0.038
284
MGL006 Megalocornea Mental Retardation Syndrome 25 0.038
285
c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 25 0.038
286
15Q002 15q24 Microdeletion Syndrome 24 0.038
287
PRD015 Proud Levine Carpenter Syndrome 24 0.038
288
47X001 47,xyy Syndrome 24 0.038
289
ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 23 0.038
290
c ACH034 Achromatopsia-2 23 0.038
291
CNN011 Cenani-Lenz Syndactyly Syndrome 23 0.038
292
c ACH036 Achromatopsia-3 23 0.038
293
RCH002 Richards-Rundle Syndrome 23 0.038
294
16Q001 16q24.3 Microdeletion Syndrome 23 0.038
295
SPN257 Spinocerebellar Ataxia 29, Congenital Nonprogressive 22 0.038
296
CRN142 Corneal Endothelial Dystrophy and Perceptive Deafness 22 0.038
297
MMS001 Momo Syndrome 22 0.038
298
CDS002 Codas Syndrome 22 0.038
299
CRN241 Corneal Dystrophy, Congenital Stromal 22 0.038
300
GRL002 Gorlin Chaudhry Moss Syndrome 22 0.038
301
JVN017 Juvenile Macular Degeneration and Hypotrichosis 21 0.038
302
DYS045 Dysosteosclerosis 21 0.038
303
HRD052 Hereditary Mucoepithelial Dysplasia 21 0.038
304
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 21 0.038
305
BLP030 Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type 21 0.038
306
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 21 0.038
307
CRB026 Cerebellar Astrocytoma 20 0.038
308
HSH001 Hashimoto-Pritzker Syndrome 20 0.038
309
c ALB017 Albinism, Oculocutaneous, Type Vi 20 0.038
310
CRB029 Cerebellopontine Angle Tumor 20 0.038
311
LMB011 Limb Deficiencies Distal with Micrognathia 19 0.038
312
NRL019 Neurologic Waardenburg-Shah Syndrome 19 0.038
313
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 19 0.038
314
XLN162 X-Linked Intellectual Disability, Najm Type 19 0.038
315
CRN083 Craniofacial Dyssynostosis 19 0.038
316
MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 19 0.038
317
TRC055 Trichomegaly with Intellectual Disability, Dwarfism and Pigmentary Degeneration of Retina 19 0.038
318
c SPN284 Spinocerebellar Ataxia 38 18 0.038
319
MLN018 Moloney Syndrome 18 0.038
320
OCL046 Ocular Albinism, Type I, Nettleship-Falls Type 17 0.038
321
SPN244 Spondylo-Ocular Syndrome 17 0.038
322
FRN041 Frontonasal Dysplasia with Alopecia and Genital Anomaly 17 0.038
323
FML277 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocular Involvement 16 0.038
324
RRD001 Reardon Wilson Cavanagh Syndrome 16 0.038
325
ERM001 Ermine Phenotype 16 0.038
326
c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 16 0.038
327
c ACH025 Achromatopsia-4 16 0.038
328
19P001 19p13.12 Microdeletion Syndrome 16 0.038
329
CDL001 Caudal Appendage Deafness 16 0.038
330
ISL011 Isolated Aniridia 15 0.038
331
HPT076 Hepatic Fibrosis - Renal Cysts - Intellectual Disability 15 0.038
332
6Q1001 6q16 Deletion Syndrome 15 0.038
333
DST045 Distal Trisomy 6p 15 0.038
334
c INF044 Infantile Axonal Neuropathy 15 0.038
335
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 15 0.038
336
OCL011 Ocular Motility Disease 15 0.038
337
8P1001 8p11.2 Deletion Syndrome 14 0.038
338
CTR138 Cataract - Intellectual Disability - Anal Atresia - Urinary Defects 14 0.038
339
OCL032 Oculocerebral Hypopigmentation Syndrome Type Preus 14 0.038
340
RTN167 Retinitis Pigmentosa - Intellectual Disability - Deafness - Hypogenitalism 14 0.038
341
WDS001 Woods Black Norbury Syndrome 14 0.038
342
NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 14 0.038
343
CTR007 Cataract Ataxia Deafness 14 0.038
344
YNG001 Young Hughes Syndrome 14 0.038
345
FVL005 Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 13 0.038
346
SPN113 Spinocerebellar Ataxia with Dysmorphism 13 0.038
347
SHR076 Short Stature - Intellectual Disability - Eye Anomalies - Cleft Lip/palate 13 0.038
348
SBR006 Subaortic Stenosis Short Stature Syndrome 13 0.038
349
AGN014 Agenesis of the Corpus Callosum - Intellectual Disability - Coloboma - Micrognathia 13 0.038
350
OCL056 Oculoosteocutaneous Syndrome 13 0.038
351
WLL007 Wells-Jankovic Syndrome 13 0.038
352
APL011 Aplasia Cutis Myopia 13 0.038
353
VND003 Van Den Bosch Syndrome 12 0.038
354
NSP011 Nasopalpebral Lipoma - Coloboma - Telecanthus 12 0.038
355
CRB129 Cerebro-Reno-Digital Syndrome 12 0.038
356
FCL035 Facial Dysmorphism - Macrocephaly - Myopia - Dandy-Walker Malformation 12 0.038
357
UVL007 Uveal Coloboma - Cleft Lip and Palate - Intellectual Disability 12 0.038
358
CRB061 Cerebellar Hypoplasia Tapetoretinal Degeneration 12 0.038
359
XLN125 X-Linked Intellectual Disability - Dysmorphism - Cerebral Atrophy 12 0.038
360
c SYN028 Syngnathia Multiple Anomalies 11 0.038
361
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 11 0.038
362
PRP081 Paraplegia - Intellectual Disability - Hyperkeratosis 11 0.038
363
PLL010 Pellagra-Like Skin Rash - Neurological Manifestations 11 0.038
364
OLV003 Olivopontocerebellar Atrophy Deafness 11 0.038
365
RTN038 Retinal Dysplasia X-Linked 11 0.038
366
LRY043 Laryngeal Abductor Paralysis - Intellectual Disability 10 0.038
367
FTL019 Fetal Iodine Syndrome 10 0.038
368
FVL006 Foveal Hypoplasia 1 10 0.038
369
OVR067 Ouvrier Billson Syndrome 10 0.038
370
TRC089 Trichodermal Syndrome - Intellectual Disability 10 0.038
371
AMR005 Amaurosis - Hypertrichosis 10 0.038
372
DNN006 Duane Anomaly - Myopathy - Scoliosis 9 0.038
373
ARC014 Auriculoocular Anomalies - Cleft Lip 9 0.038
374
SPS081 Spastic Ataxia with Congenital Miosis 9 0.038
375
ATX020 Ataxia - Tapetoretinal Degeneration 8 0.038
376
c SYS001 Systemic Lupus Erythematosus 91 0.027
377
P KRB001 Krabbe Disease 73 0.027
378
P WLM002 Wilms Tumor 70 0.027
379
AND015 Androgen Insensitivity 69 0.027
380
P LPS004 Lupus Erythematosus 67 0.027
381
GLL008 Gilles De La Tourette Syndrome 64 0.027
382
P MYS003 Myasthenia Gravis 64 0.027
383
GLN010 Glanzmann Thrombasthenia 63 0.027
384
P FRD001 Friedreich Ataxia 61 0.027
385
ATS001 Autistic Disorder 61 0.027
386
P CNV004 Canavan Disease 59 0.027
387
MTC007 Mitochondrial Complex I Deficiency 57 0.027
388
CRY002 Cryptorchidism 57 0.027
389
STT001 Status Epilepticus 56 0.027
390
ADN018 Adenoma 55 0.027
391
P DYS154 Dystonia 55 0.027
392
P HMP002 Hemophagocytic Lymphohistiocytosis 54 0.027
393
CRN036 Craniopharyngioma 54 0.027
394
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 54 0.027
395
ISC004 Ischemia 53 0.027
396
APP015 Apparent Mineralocorticoid Excess 53 0.027
397
SRT004 Serotonin Syndrome 52 0.027
398
PTT006 Pituitary Adenoma 52 0.027
399
P GNG009 Gangliosidosis 52 0.027
400
P NRM001 Neuromyelitis Optica 52 0.027
401
CLF001 Cleft Lip 51 0.027
402
SPN020 Spondylosis 51 0.027
403
FCL009 Focal Dermal Hypoplasia 51 0.027
404
DBF001 D-Bifunctional Protein Deficiency 51 0.027
405
c SCN006 Secondary Syphilis 51 0.027
406
MVL001 Mevalonic Aciduria 51 0.027
407
ALP008 Alopecia 51 0.027
408
P AXN010 Axenfeld-Rieger Syndrome, Type 3 50 0.027
409
CRN017 Coronary Thrombosis 50 0.027
410
c SPN301 Spinocerebellar Ataxia 2 49 0.027
411
BRN029 Brain Disease 49 0.027
412
P MCR010 Microcephaly 49 0.027
413
WLF002 Wolf-Hirschhorn Syndrome 49 0.027
414
ECT006 Ectodermal Dysplasia 48 0.027
415
P TRM003 Tremor 48 0.027
416
ALL001 Allan-Herndon-Dudley Syndrome 47 0.027
417
P STS008 Sotos Syndrome 1 46 0.027
418
WRN002 Wernicke-Korsakoff Syndrome 46 0.027
419
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 46 0.027
420
P SLL003 Salla Disease 46 0.027
421
PTT004 Pituitary Apoplexy 46 0.027
422
HNT002 Hantavirus Pulmonary Syndrome 46 0.027
423
CHR008 Choroiditis 45 0.027
424
P STR022 Stargardt Disease 45 0.027
425
P LKD001 Leukodystrophy 45 0.027
426
c ATX006 Ataxia-Telangiectasia-Like Disorder 45 0.027
427
LYS002 Lysosomal Storage Disease 45 0.027
428
ASP001 Asperger Syndrome 45 0.027
429
P SCL018 Scoliosis 45 0.027
430
c L2H001 L-2-Hydroxyglutaric Aciduria 45 0.027
431
c XRD015 Xeroderma Pigmentosum, Group F 45 0.027
432
CRB045 Cerebellar Hypoplasia 44 0.027
433
PRP023 Peripheral Neuropathy 44 0.027
434
c SPN106 Spinocerebellar Ataxia 5 44 0.027
435
PSD014 Pseudopseudohypoparathyroidism 43 0.027
436
P NRX001 Neuroaxonal Dystrophy 43 0.027
437
P SYN001 Syndactyly 43 0.027
438
THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 43 0.027
439
OPT037 Optic Nerve Hypoplasia 42 0.027
440
c LBR014 Leber Congenital Amaurosis 4 42 0.027
441
BRN003 Branchiooculofacial Syndrome 42 0.027
442
MTR017 Maternally Inherited Leigh Syndrome 42 0.027
443
c SPN291 Spinocerebellar Ataxia 7 42 0.027
444
P SPL037 Split Hand Foot Malformation 41 0.027
445
KRT002 Keratomalacia 41 0.027
446
P LSS027 Lissencephaly, X-Linked 41 0.027
447
c MNN025 Mannosidosis, Alpha-, Types I and Ii 41 0.027
448
RTN018 Retinal Disease 41 0.027
449
WRD025 Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 40 0.027
450
c OPT055 Optic Atrophy Plus Syndrome 40 0.027
451
c CNG415 Congenital Disorder of Glycosylation, Type Ia 40 0.027
452
FRN002 Frontal Lobe Epilepsy 39 0.027
453
P PTS002 Ptosis 39 0.027
454
MTC057 Mitochondrial Recessive Ataxia Syndrome 39 0.027
455
c OPT053 Optic Atrophy 1 39 0.027
456
P RTN016 Retinal Degeneration 38 0.027
457
APR001 Apraxia 38 0.027
458
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 38 0.027
459
PST055 Postural Hypotension 37 0.027
460
P CHR342 Chiari Malformation 37 0.027
461
CRT012 Cortical Blindness 36 0.027
462
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 36 0.027
463
PCH002 Pachygyria 36 0.027
464
DNT016 Dentatorubro-Pallidoluysian Atrophy 36 0.027
465
c HRM005 Hermansky-Pudlak Syndrome 1 36 0.027
466
SPT006 Septooptic Dysplasia 36 0.027
467
OBS004 Obstructive Hydrocephalus 36 0.027
468
CRN248 Craniofrontonasal Dysplasia 35 0.027
469
NTR001 Neutral Lipid Storage Disease 35 0.027
470
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 35 0.027
471
ADN022 Adenylosuccinase Deficiency 35 0.027
472
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 35 0.027
473
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 34 0.027
474
c CCK005 Cockayne Syndrome, Type a 34 0.027
475
c CCK006 Cockayne Syndrome, Type B 34 0.027
476
PRP028 Peripheral Vertigo 34 0.027
477
P BRN035 Brain Stem Glioma 34 0.027
478
c SPN296 Spinocerebellar Ataxia 17 34 0.027
479
SCT002 Scotoma 34 0.027
480
AMY087 Amyloidosis, Hereditary, Transthyretin-Related 33 0.027
481
MTC054 Mitochondrial Dna Depletion Syndrome 7 33 0.027
482
SPS057 Spasticity 32 0.027
483
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 32 0.027
484
ARS002 Arsacs 31 0.027
485
MLL002 Miller Fisher Syndrome 31 0.027
486
ART002 Arts Syndrome 31 0.027
487
CHR222 Chromosome 1p36 Deletion Syndrome 31 0.027
488
c SPN314 Spinocerebellar Ataxia 10 30 0.027
489
PSL001 Pasli Disease 30 0.027
490
ABL001 Ablepharon Macrostomia Syndrome 30 0.027
491
GRS011 Gerstmann-Straussler Disease 29 0.027
492
c CHR516 Charcot-Marie-Tooth Disease, Type 4c 29 0.027
493
SHK001 Shaken Baby Syndrome 29 0.027
494
c HRM006 Hermansky-Pudlak Syndrome 3 29 0.027
495
RVS001 Revesz Syndrome 28 0.027
496
c SPN290 Spinocerebellar Ataxia 15 28 0.027
497
PLY117 Polymicrogyria, Bilateral Frontoparietal 28 0.027
498
UND005 Undifferentiated Pleomorphic Sarcoma 28 0.027
499
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 27 0.027
500
c JBR004 Joubert Syndrome 2 27 0.027
501
c MGR032 Migraine, Familial Hemiplegic, 1 27 0.027
502
c HRM017 Hermansky-Pudlak Syndrome 2 27 0.027
503
c SPN312 Spinocerebellar Ataxia 14 27 0.027
504
LKN003 Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation 27 0.027
505
c CTR130 Cataract 9, Multiple Types 27 0.027
506
c OST126 Osteopetrosis, Autosomal Recessive 1 27 0.027
507
c CHR160 Chiari Malformation Type 2 26 0.027
508
c CRN139 Cornelia De Lange Syndrome 1 26 0.027
509
FRG010 Fragile X Tremor/ataxia Syndrome 26 0.027
510
P CRB101 Cerebrooculofacioskeletal Syndrome 1 26 0.027
511
c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 26 0.027
512
c LBR009 Leber Congenital Amaurosis 14 26 0.027
513
P THM010 Thiamine Metabolism Dysfunction Syndrome 2 25 0.027
514
c STR085 Striatonigral Degeneration, Infantile 25 0.027
515
P CMM008 Communicating Hydrocephalus 25 0.027
516
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 25 0.027
517
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 25 0.027
518
PHS021 Phosphoglycerate Dehydrogenase Deficiency 25 0.027
519
c PSD058 Pseudohypoparathyroidism Ic 25 0.027
520
P CTS012 Cutis Verticis Gyrata 25 0.027
521
c PSD067 Pseudohypoparathyroidism Ia 24 0.027
522
c JBR012 Joubert Syndrome 5 24 0.027
523
c SPN308 Spinocerebellar Ataxia 28 24 0.027
524
PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 24 0.027
525
PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 24 0.027
526
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 24 0.027
527
OLG014 Oligocone Trichromacy 24 0.027
528
CRL001 Cerulean Cataract 24 0.027
529
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 24 0.027
530
c SPN100 Spinocerebellar Ataxia 27 24 0.027
531
c LBR015 Leber Congenital Amaurosis 5 23 0.027
532
c LBR013 Leber Congenital Amaurosis 3 23 0.027
533
BND015 Band-Like Calcification with Simplified Gyration and Polymicrogyria 23 0.027
534
BSL004 Basilar Artery Occlusion 23 0.027
535
c OST136 Osteopetrosis, Autosomal Recessive 7 23 0.027
536
c SPN094 Spinocerebellar Ataxia 18 22 0.027
537
ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 22 0.027
538
P JBR017 Joubert Syndrome-3 22 0.027
539
c SPN305 Spinocerebellar Ataxia 11 22 0.027
540
c SPN095 Spinocerebellar Ataxia 19 22 0.027
541
c LBR019 Leber Congenital Amaurosis 9 22 0.027
542
c SPN096 Spinocerebellar Ataxia 21 22 0.027
543
c NPH053 Nephronophthisis 11 22 0.027
544
P VTR010 Vitreoretinochoroidopathy 22 0.027
545
INF129 Infantile Cerebellar-Retinal Degeneration 22 0.027
546
c WRD020 Waardenburg Syndrome, Type 4a 22 0.027
547
c CTR102 Cataract 2, Multiple Types 22 0.027
548
c SPN283 Spinocerebellar Ataxia 37 22 0.027
549
c ALB015 Albinism, Oculocutaneous, Type V 21 0.027
550
c PNT030 Pontocerebellar Hypoplasia, Type 8 21 0.027
551
MLY006 Molybdenum Cofactor Deficiency a 21 0.027
552
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 21 0.027
553
c LBR007 Leber Congenital Amaurosis 12 21 0.027
554
CRB027 Cerebellar Disease 21 0.027
555
MCR110 Microphthalmia with Coloboma 6, Digenic 21 0.027
556
PCW002 Pcwh Syndrome 21 0.027
557
c NRM008 Neuromyelitis Optica Spectrum Disorder 21 0.027
558
c PNT018 Pontocerebellar Hypoplasia, Type 1b 21 0.027
559
HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 21 0.027
560
c HRM012 Hermansky-Pudlak Syndrome 9 21 0.027
561
c LBR010 Leber Congenital Amaurosis 15 21 0.027
562
c SPN103 Spinocerebellar Ataxia 31 21 0.027
563
c SPS064 Spastic Paraplegia 45 21 0.027
564
MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 21 0.027
565
c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 21 0.027
566
c PNT033 Pontocerebellar Hypoplasia, Type 10 21 0.027
567
c SPN299 Spinocerebellar Ataxia 20 21 0.027
568
c SPN098 Spinocerebellar Ataxia 25 20 0.027
569
PYR025 Pyruvate Dehydrogenase E2 Deficiency 20 0.027
570
c JBR024 Joubert Syndrome 14 20 0.027
571
AXL006 Axial Spondylometaphyseal Dysplasia 20 0.027
572
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 20 0.027
573
c JBR018 Joubert Syndrome 4 20 0.027
574
c EPL141 Epilepsy, Progressive Myoclonic 5 20 0.027
575
c EXD004 Exudative Vitreoretinopathy 4 20 0.027
576
c USH026 Usher Syndrome Type 3b 20 0.027
577
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 19 0.027
578
PRD011 Proud Syndrome 19 0.027
579
P NRD009 Neurodegeneration with Brain Iron Accumulation 2b 19 0.027
580
CMB018 Combined Oxidative Phosphorylation Deficiency 7 19 0.027
581
P CHR348 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 19 0.027
582
ARM003 Aromatic Amino Acid Decarboxylase Deficiency 19 0.027
583
CMB012 Combined Oxidative Phosphorylation Deficiency 1 19 0.027
584
MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 19 0.027
585
SLC020 Sialic Acid Storage Disorder, Infantile 19 0.027
586
BRN036 Brain Stem Infarction 19 0.027
587
P LKD010 Leukodystrophy, Hypomyelinating, 2 19 0.027
588
c TRC067 Trichothiodystrophy, Nonphotosensitive 1 19 0.027
589
CNR031 Cone-Rod Dystrophy, X-Linked, 1 19 0.027
590
c SPN099 Spinocerebellar Ataxia 26 19 0.027
591
c KNB004 Knobloch Syndrome, Type 1 19 0.027
592
LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 19 0.027
593
c CNG200 Congenital Disorder of Glycosylation, Type Iq 19 0.027
594
c SPS152 Spastic Paraplegia 51, Autosomal Recessive 19 0.027
595
CMB015 Combined Oxidative Phosphorylation Deficiency 4 19 0.027
596
c SPS116 Spastic Paraplegia 26, Autosomal Recessive 19 0.027
597
c ATX016 Ataxia, Spastic, 4 19 0.027
598
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 19 0.027
599
c SPS136 Spastic Ataxia 3, Autosomal Recessive 18 0.027
600
VRT001 Vertebral Artery Occlusion 18 0.027
601
P OPT045 Optic Atrophy-7 18 0.027
602
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 18 0.027
603
c GNT027 Giant Axonal Neuropathy-1 18 0.027
604
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 18 0.027
605
MTC063 Mitochondrial Dna Depletion Syndrome 3 18 0.027
606
c NGH016 Night Blindness, Congenital Stationary , 1c, Autosomal Recessive 18 0.027
607
c JBR014 Joubert Syndrome 9 18 0.027
608
c JBR011 Joubert Syndrome 7 18 0.027
609
CMB048 Combined Oxidative Phosphorylation Deficiency 15 18 0.027
610
RTN035 Retinal Cone Dystrophy 3b 18 0.027
611
c FRD006 Friedreich Ataxia 2 18 0.027
612
RTN084 Retinal Cone Dystrophy 3 17 0.027
613
c PRX059 Peroxisome Biogenesis Disorder 1a 17 0.027
614
c LBR011 Leber Congenital Amaurosis 16 17 0.027
615
ATX018 Ataxia, Cerebellar, Cayman Type 17 0.027
616
CRB108 Cerebral Palsy, Ataxic, Autosomal Recessive 17 0.027
617
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 17 0.027
618
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 17 0.027
619
c SNR004 Senior-Loken Syndrome 4 17 0.027
620
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 17 0.027
621
c CNG205 Congenital Disorder of Glycosylation, Type Ij 17 0.027
622
c SPN102 Spinocerebellar Ataxia 30 17 0.027
623
CND012 Cone Dystrophy 4 17 0.027
624
ENC023 Encephalopahty, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 17 0.027
625
CPS001 Capos Syndrome 17 0.027
626
c EPS034 Episodic Ataxia, Type 5 17 0.027
627
HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 17 0.027
628
c LKD019 Leukodystrophy, Hypomyelinating, 6 17 0.027
629
c ALB016 Albinism, Oculocutaneous, Type Vii 17 0.027
630
c CNG389 Congenital Disorder of Glycosylation, Type Iim 17 0.027
631
MLY005 Molybdenum Cofactor Deficiency B 17 0.027
632
CNR014 Cone-Rod Dystrophy 16 17 0.027
633
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 16 0.027
634
P SPN202 Spinocerebellar Ataxia, X-Linked 1 16 0.027
635
c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 16 0.027
636
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 16 0.027
637
c NGH015 Night Blindness, Congenital Stationary , 2b, Autosomal Recessive 16 0.027
638
MTC058 Mitochondrial Dna Depletion Syndrome 6 16 0.027
639
c GCH013 Gaucher Disease, Type Iiic 16 0.027
640
P HYP534 Hypomagnesemia 3, Renal 16 0.027
641
c LKD008 Leukodystrophy, Hypomyelinating, 4 16 0.027
642
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 16 0.027
643
HYP213 Hypomelanotic Disorder 15 0.027
644
P INT105 Intellectual Disability Multi-Gene Panels 15 0.027
645
c PRR020 Perrault Syndrome 1 15 0.027
646
c WRB004 Warburg Micro Syndrome 3 15 0.027
647
c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 15 0.027
648
c SCL045 Sclerosteosis 1 15 0.027
649
RDG001 Red-Green Color Blindness 15 0.027
650
URC006 Urocanase Deficiency 15 0.027
651
c MCR228 Microphthalmia, Syndromic 13 15 0.027
652
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 15 0.027
653
c NGH018 Night Blindness, Congenital Stationary , 1e, Autosomal Recessive 15 0.027
654
CHR382 Chromosome 18q Deletion Syndrome 15 0.027
655
CHR073 Choreatic Disease 15 0.027
656
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 14 0.027
657
c CRB100 Cerebrooculofacioskeletal Syndrome 4 14 0.027
658
NRX004 Neuroaxonal Neurodegeneration, Infantile, with Facial Dysmophism 14 0.027
659
P SPS133 Spastic Paraplegia 2, X-Linked 14 0.027
660
SPN126 Spondyloepimetaphyseal Dysplasia Genevieve Type 14 0.027
661
LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 14 0.027
662
c NGH017 Night Blindness, Congenital Stationary , 1d, Autosomal Recessive 14 0.027
663
c SPS142 Spastic Ataxia 2, Autosomal Recessive 14 0.027
664
c ACR081 Aicardi-Goutieres Syndrome 6 14 0.027
665
c NPH069 Nephronophthisis 15 14 0.027
666
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 14 0.027
667
LKN009 Leukoencephalopathy with Metaphyseal Chondrodysplasia 14 0.027
668
MTC088 Mitochondrial Dna Depletion Syndrome 13 14 0.027
669
c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 13 0.027
670
EPL138 Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 13 0.027
671
MTC079 Mitochondrial Pyruvate Carrier Deficiency 13 0.027
672
c CNG201 Congenital Disorder of Glycosylation, Type Iij 13 0.027
673
c SNR011 Senior-Loken Syndrome 3 13 0.027
674
c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 13 0.027
675
CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 13 0.027
676
ACC002 Accommodative Spasm 13 0.027
677
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 13 0.027
678
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 13 0.027
679
c BSL032 Basal Ganglia Calcification, Idiopathic, 4 13 0.027
680
MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 12 0.027
681
c EPS025 Episodic Ataxia Type 4 12 0.027
682
LKN018 Leukoencephalopathy, Progressive, with Ovarian Failure 12 0.027
683
BRW008 Brown-Vialetto-Van Laere Syndrome 2 12 0.027
684
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 12 0.027
685
CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 12 0.027
686
c MNT213 Mental Retardation, Autosomal Recessive 40 12 0.027
687
NRD013 Neurodegeneration with Optic Atrophy, Childhood Onset 12 0.027
688
OCL048 Oculoauricular Syndrome 12 0.027
689
BSC005 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 12 0.027
690
c SPN203 Spinocerebellar Ataxia, X-Linked 5 12 0.027
691
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 12 0.027
692
MTC092 Mitochondrial Complex Deficiency, Nuclear Type 4 11 0.027
693
CHR501 Chromosome 17q12 Deletion Syndrome 11 0.027
694
CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 11 0.027
695
MRL004 Morillo-Cucci-Passarge Syndrome 11 0.027
696
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 11 0.027
697
PRT097 Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 11 0.027
698
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 11 0.027
699
c LKD016 Leukodystrophy, Hypomyelinating, 9 11 0.027
700
PRT101 Poretti-Boltshauser Syndrome 11 0.027
701
ATX024 Ataxia-Oculomotor Apraxia 3 10 0.027
702
RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 10 0.027
703
SPR038 Supranuclear Ocular Palsy 9 0.027
704
BRC043 Brachymetapody Anodontia Hypotrichosis Albinoidism 8 0.027
705
c CSK002 Cask-Related Intellectual Disability 7 0.027
706
RDS002 Red Skin Pigment Anomaly of New Guinea 6 0.027
707
BRR001 Barre-Lieou Syndrome 6 0.027
708
CHR284 Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids 5 0.027
709
CNG272 Congenital Achiasma 5 0.027