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 4.965
2
P CNG024 Congenital Nystagmus 40 4.401
3
c NYS017 Nystagmus 1, Congenital, X-Linked 23 4.400
4
VST003 Vestibular Nystagmus 25 4.170
5
SPL021 Split Hand Split Foot Nystagmus 20 4.033
6
SPN033 Spontaneous Ocular Nystagmus 12 3.966
7
c FRM005 Frmd7-Related Infantile Nystagmus 11 3.689
8
c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 16 3.682
9
c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 14 3.682
10
c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 13 3.682
11
c NYS013 Nystagmus 6, Congenital, X-Linked 16 3.668
12
FBR023 Fibrinogen Deficiency, Congenital 14 3.644
13
NYS007 Nystagmus, Hereditary Vertical 5 3.616
14
DSS005 Dissociated Nystagmus 9 3.285
15
NYS008 Nystagmus, Myoclonic 4 3.238
16
BNG018 Benign Paroxysmal Positional Nystagmus 28 2.885
17
c NYS012 Nystagmus 5, Congenital, X-Linked 13 2.869
18
LWR008 Lowry Wood Syndrome 21 2.843
19
PTH003 Pathologic Nystagmus 8 2.843
20
CHR165 Chorea, Remitting with Nystagmus and Cataracts 5 2.833
21
P BMN001 Biemond Syndrome 20 2.822
22
c EPS035 Episodic Ataxia, Type 2 48 2.419
23
c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 12 2.367
24
HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 5 2.329
25
c MCR132 Microphthalmia with Cataract 2 13 2.304
26
NYS006 Nystagmus, Congenital Motor, Autosomal Recessive 3 2.304
27
ATS233 Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome 4 2.290
28
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 2 2.290
29
MTN006 Mietens-Weber Syndrome 18 1.661
30
ODN003 O Donnell Pappas Syndrome 18 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
BLC001 Blue Cone Monochromacy 40 0.066
71
c ALB021 Albinism, Oculocutaneous, Type Ii 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
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 28 0.054
95
c ALB010 Albinism, Oculocutaneous, Type Ib 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
MNR002 Meniere's Disease 53 0.047
110
P CFF001 Coffin-Siris Syndrome 53 0.047
111
c JBR020 Joubert Syndrome 1 54 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
MNN014 Mononeuritis 43 0.047
127
P NGH001 Night Blindness 42 0.047
128
P SLD010 Sialidosis, Type I 43 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 CLR019 Color Blindness 38 0.047
134
P MRN003 Marinesco-Sjogren Syndrome 38 0.047
135
GPS001 Gapo Syndrome 37 0.047
136
TTR016 Tetra-Amelia Syndrome 36 0.047
137
c ORF034 Orofaciodigital Syndrome Vi 36 0.047
138
P BLP032 Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 36 0.047
139
SPL040 Split Hand 35 0.047
140
c MCR263 Microphthalmia, Syndromic 1 35 0.047
141
SPL039 Split Foot 33 0.047
142
c SPN309 Spinocerebellar Ataxia 6 34 0.047
143
VCS001 Vici Syndrome 33 0.047
144
CRB009 Cerebritis 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
TFT003 Tufting Enteropathy 26 0.047
152
c ALB019 Albinism, Oculocutaneous, Type Iv 26 0.047
153
c MCR251 Microphthalmia, Syndromic 6 26 0.047
154
c ALB020 Albinism, Oculocutaneous, Type Iii 26 0.047
155
c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 24 0.047
156
BHR001 Behr Syndrome 24 0.047
157
OCL033 Oculocerebral Syndrome with Hypopigmentation 25 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 LBR018 Leber Congenital Amaurosis 8 21 0.047
162
c LBR016 Leber Congenital Amaurosis 6 21 0.047
163
c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 21 0.047
164
c LBR017 Leber Congenital Amaurosis 7 20 0.047
165
VST004 Vestibular Disease 21 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
VSL005 Visual Pathway Disease 15 0.047
171
CRM007 Crome Syndrome 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
NRR002 Norrie Disease 65 0.038
181
P OST001 Osteopetrosis 65 0.038
182
P LGH007 Leigh Syndrome 65 0.038
183
VNH007 Von Hippel-Lindau Syndrome 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
ACR008 Acrocallosal Syndrome 55 0.038
195
P ALT001 Alternating Hemiplegia of Childhood 54 0.038
196
BSL036 Basal Cell Nevus Syndrome 55 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
ARC007 Arachnoid Cysts 49 0.038
209
c BRD010 Bardet-Biedl Syndrome 1 48 0.038
210
DJR004 Dejerine-Sottas Disease 49 0.038
211
c FML023 Familial Hemiplegic Migraine 48 0.038
212
P DND001 Dandy-Walker Syndrome 48 0.038
213
BLL001 Baller-Gerold Syndrome 47 0.038
214
c SPN294 Spinocerebellar Ataxia 1 47 0.038
215
P OTS001 Otosclerosis 46 0.038
216
c USH032 Usher Syndrome, Type 2a 47 0.038
217
HRT031 Hartnup Disorder 46 0.038
218
P GRS003 Griscelli Syndrome 45 0.038
219
c TYR013 Tyrosinemia, Type Ii 46 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
MRS002 Marshall Syndrome 43 0.038
226
ATX019 Ataxia with Vitamin E Deficiency 42 0.038
227
P KBK002 Kabuki Syndrome 1 42 0.038
228
KLP010 Klippel-Trenaunay-Weber Syndrome 43 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
DYS018 Dysostosis 38 0.038
238
SPN050 Spinocerebellar Degeneration 37 0.038
239
CHR105 Choreoacanthocytosis 38 0.038
240
PPL048 Papillorenal Syndrome 38 0.038
241
P SCH017 Schindler Disease 36 0.038
242
JBR006 Joubert Syndrome with Oculorenal Anomalies 36 0.038
243
P CNG206 Congenital Disorder of Glycosylation, Type Ie 37 0.038
244
INC001 Incontinentia Pigmenti Achromians 36 0.038
245
c INF069 Infantile Neuroaxonal Dystrophy 1 36 0.038
246
PRS055 Pierson Syndrome 36 0.038
247
c OST137 Osteopetrosis, Autosomal Recessive 4 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
ALN001 Aland Island Eye Disease 34 0.038
253
SDC002 Sed Congenita 34 0.038
254
c SPS079 Spastic Paraplegia 2 33 0.038
255
CHR174 Christianson Syndrome 33 0.038
256
DVL002 Developmental Disabilities 33 0.038
257
c SPN304 Spinocerebellar Ataxia 8 34 0.038
258
FRS004 Free Sialic Acid Storage Disorders 32 0.038
259
JBR005 Joubert Syndrome with Ocular Anomalies 31 0.038
260
ACR059 Acro-Renal-Ocular Syndrome 30 0.038
261
HYP299 Hyperostosis, Endosteal 30 0.038
262
P KNB001 Knobloch Syndrome 30 0.038
263
HYP291 Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 31 0.038
264
CGN006 Cogan Syndrome 31 0.038
265
c SPN311 Spinocerebellar Ataxia 13 31 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
HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 29 0.038
270
YNS002 Yunis-Varon Syndrome 29 0.038
271
KFM001 Kaufman Oculocerebrofacial Syndrome 28 0.038
272
c GRS013 Griscelli Syndrome, Type 1 28 0.038
273
CRB055 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 27 0.038
274
CHR518 Chromosome 9p Deletion Syndrome 28 0.038
275
JBR007 Joubert Syndrome with Renal Anomalies 27 0.038
276
HMC036 Homocystinuria Without Methylmalonic Aciduria 27 0.038
277
LKN007 Leukonychia Totalis 26 0.038
278
DNC004 Diencephalic Syndrome 26 0.038
279
c LBR012 Leber Congenital Amaurosis 2 25 0.038
280
MRN009 Morning Glory Syndrome 26 0.038
281
c ATS004 Autosomal Dominant Microcephaly 25 0.038
282
GZP002 Gaze Palsy, Horizontal, with Progressive Scoliosis 25 0.038
283
c ORF012 Orofaciodigital Syndrome 8 25 0.038
284
PRD015 Proud Levine Carpenter Syndrome 24 0.038
285
MGL006 Megalocornea Mental Retardation Syndrome 25 0.038
286
c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 25 0.038
287
ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 23 0.038
288
15Q002 15q24 Microdeletion Syndrome 24 0.038
289
47X001 47,xyy Syndrome 24 0.038
290
RCH002 Richards-Rundle Syndrome 23 0.038
291
16Q001 16q24.3 Microdeletion Syndrome 23 0.038
292
SPN257 Spinocerebellar Ataxia 29, Congenital Nonprogressive 22 0.038
293
c ACH034 Achromatopsia-2 23 0.038
294
CRN142 Corneal Endothelial Dystrophy and Perceptive Deafness 22 0.038
295
CNN011 Cenani-Lenz Syndactyly Syndrome 23 0.038
296
c ACH036 Achromatopsia-3 23 0.038
297
JVN017 Juvenile Macular Degeneration and Hypotrichosis 21 0.038
298
MMS001 Momo Syndrome 22 0.038
299
CDS002 Codas Syndrome 22 0.038
300
DYS045 Dysosteosclerosis 21 0.038
301
HRD052 Hereditary Mucoepithelial Dysplasia 21 0.038
302
CRN241 Corneal Dystrophy, Congenital Stromal 22 0.038
303
GRL002 Gorlin Chaudhry Moss Syndrome 22 0.038
304
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 21 0.038
305
CRB026 Cerebellar Astrocytoma 20 0.038
306
HSH001 Hashimoto-Pritzker Syndrome 20 0.038
307
BLP030 Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type 21 0.038
308
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 21 0.038
309
CRB029 Cerebellopontine Angle Tumor 20 0.038
310
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 19 0.038
311
c ALB017 Albinism, Oculocutaneous, Type Vi 20 0.038
312
c SPN284 Spinocerebellar Ataxia 38 18 0.038
313
LMB011 Limb Deficiencies Distal with Micrognathia 19 0.038
314
NRL019 Neurologic Waardenburg-Shah Syndrome 19 0.038
315
XLN162 X-Linked Intellectual Disability, Najm Type 19 0.038
316
CRN083 Craniofacial Dyssynostosis 19 0.038
317
MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 19 0.038
318
TRC055 Trichomegaly with Intellectual Disability, Dwarfism and Pigmentary Degeneration of Retina 19 0.038
319
OCL046 Ocular Albinism, Type I, Nettleship-Falls Type 17 0.038
320
MLN018 Moloney Syndrome 18 0.038
321
SPN244 Spondylo-Ocular Syndrome 17 0.038
322
c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 16 0.038
323
FRN041 Frontonasal Dysplasia with Alopecia and Genital Anomaly 17 0.038
324
FML277 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocular Involvement 16 0.038
325
ISL011 Isolated Aniridia 15 0.038
326
RRD001 Reardon Wilson Cavanagh Syndrome 16 0.038
327
6Q1001 6q16 Deletion Syndrome 15 0.038
328
ERM001 Ermine Phenotype 16 0.038
329
OCL011 Ocular Motility Disease 15 0.038
330
c ACH025 Achromatopsia-4 16 0.038
331
19P001 19p13.12 Microdeletion Syndrome 16 0.038
332
CDL001 Caudal Appendage Deafness 16 0.038
333
HPT076 Hepatic Fibrosis - Renal Cysts - Intellectual Disability 15 0.038
334
8P1001 8p11.2 Deletion Syndrome 14 0.038
335
c INF044 Infantile Axonal Neuropathy 15 0.038
336
DST045 Distal Trisomy 6p 15 0.038
337
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 15 0.038
338
NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 14 0.038
339
FVL005 Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 13 0.038
340
CTR138 Cataract - Intellectual Disability - Anal Atresia - Urinary Defects 14 0.038
341
OCL032 Oculocerebral Hypopigmentation Syndrome Type Preus 14 0.038
342
RTN167 Retinitis Pigmentosa - Intellectual Disability - Deafness - Hypogenitalism 14 0.038
343
WDS001 Woods Black Norbury Syndrome 14 0.038
344
CTR007 Cataract Ataxia Deafness 14 0.038
345
YNG001 Young Hughes Syndrome 14 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
FVL006 Foveal Hypoplasia 1 10 0.038
363
PRP081 Paraplegia - Intellectual Disability - Hyperkeratosis 11 0.038
364
PLL010 Pellagra-Like Skin Rash - Neurological Manifestations 11 0.038
365
OLV003 Olivopontocerebellar Atrophy Deafness 11 0.038
366
RTN038 Retinal Dysplasia X-Linked 11 0.038
367
LRY043 Laryngeal Abductor Paralysis - Intellectual Disability 10 0.038
368
FTL019 Fetal Iodine Syndrome 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
AND015 Androgen Insensitivity 69 0.027
379
P LPS004 Lupus Erythematosus 67 0.027
380
GLL008 Gilles De La Tourette Syndrome 64 0.027
381
P MYS003 Myasthenia Gravis 64 0.027
382
GLN010 Glanzmann Thrombasthenia 63 0.027
383
P WLM002 Wilms Tumor 70 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
SRT004 Serotonin Syndrome 52 0.027
397
PTT006 Pituitary Adenoma 52 0.027
398
P GNG009 Gangliosidosis 52 0.027
399
APP015 Apparent Mineralocorticoid Excess 53 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
CRN017 Coronary Thrombosis 50 0.027
409
P AXN010 Axenfeld-Rieger Syndrome, Type 3 50 0.027
410
BRN029 Brain Disease 49 0.027
411
P MCR010 Microcephaly 49 0.027
412
WLF002 Wolf-Hirschhorn Syndrome 49 0.027
413
c SPN301 Spinocerebellar Ataxia 2 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
LYS002 Lysosomal Storage Disease 45 0.027
427
ASP001 Asperger Syndrome 45 0.027
428
c L2H001 L-2-Hydroxyglutaric Aciduria 45 0.027
429
c XRD015 Xeroderma Pigmentosum, Group F 45 0.027
430
c ATX006 Ataxia-Telangiectasia-Like Disorder 45 0.027
431
CRB045 Cerebellar Hypoplasia 44 0.027
432
P SCL018 Scoliosis 45 0.027
433
PRP023 Peripheral Neuropathy 44 0.027
434
PSD014 Pseudopseudohypoparathyroidism 43 0.027
435
P NRX001 Neuroaxonal Dystrophy 43 0.027
436
P SYN001 Syndactyly 43 0.027
437
c SPN106 Spinocerebellar Ataxia 5 44 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
P SPL037 Split Hand Foot Malformation 41 0.027
444
KRT002 Keratomalacia 41 0.027
445
c MNN025 Mannosidosis, Alpha-, Types I and Ii 41 0.027
446
RTN018 Retinal Disease 41 0.027
447
c SPN291 Spinocerebellar Ataxia 7 42 0.027
448
WRD025 Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 40 0.027
449
P LSS027 Lissencephaly, X-Linked 41 0.027
450
FRN002 Frontal Lobe Epilepsy 39 0.027
451
c OPT055 Optic Atrophy Plus Syndrome 40 0.027
452
c CNG415 Congenital Disorder of Glycosylation, Type Ia 40 0.027
453
P PTS002 Ptosis 39 0.027
454
P RTN016 Retinal Degeneration 38 0.027
455
APR001 Apraxia 38 0.027
456
MTC057 Mitochondrial Recessive Ataxia Syndrome 39 0.027
457
c OPT053 Optic Atrophy 1 39 0.027
458
PST055 Postural Hypotension 37 0.027
459
P CHR342 Chiari Malformation 37 0.027
460
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 38 0.027
461
CRT012 Cortical Blindness 36 0.027
462
PCH002 Pachygyria 36 0.027
463
c HRM005 Hermansky-Pudlak Syndrome 1 36 0.027
464
OBS004 Obstructive Hydrocephalus 36 0.027
465
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 36 0.027
466
DNT016 Dentatorubro-Pallidoluysian Atrophy 36 0.027
467
SPT006 Septooptic Dysplasia 36 0.027
468
NTR001 Neutral Lipid Storage Disease 35 0.027
469
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 35 0.027
470
ADN022 Adenylosuccinase Deficiency 35 0.027
471
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 35 0.027
472
CRN248 Craniofrontonasal Dysplasia 35 0.027
473
PRP028 Peripheral Vertigo 34 0.027
474
P BRN035 Brain Stem Glioma 34 0.027
475
SCT002 Scotoma 34 0.027
476
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 34 0.027
477
c CCK005 Cockayne Syndrome, Type a 34 0.027
478
MTC054 Mitochondrial Dna Depletion Syndrome 7 33 0.027
479
c CCK006 Cockayne Syndrome, Type B 34 0.027
480
c SPN296 Spinocerebellar Ataxia 17 34 0.027
481
AMY087 Amyloidosis, Hereditary, Transthyretin-Related 33 0.027
482
SPS057 Spasticity 32 0.027
483
ARS002 Arsacs 31 0.027
484
MLL002 Miller Fisher Syndrome 31 0.027
485
ART002 Arts Syndrome 31 0.027
486
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 32 0.027
487
PSL001 Pasli Disease 30 0.027
488
CHR222 Chromosome 1p36 Deletion Syndrome 31 0.027
489
c SPN314 Spinocerebellar Ataxia 10 30 0.027
490
GRS011 Gerstmann-Straussler Disease 29 0.027
491
ABL001 Ablepharon Macrostomia Syndrome 30 0.027
492
SHK001 Shaken Baby Syndrome 29 0.027
493
c HRM006 Hermansky-Pudlak Syndrome 3 29 0.027
494
c CHR516 Charcot-Marie-Tooth Disease, Type 4c 29 0.027
495
RVS001 Revesz Syndrome 28 0.027
496
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 27 0.027
497
c JBR004 Joubert Syndrome 2 27 0.027
498
LKN003 Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation 27 0.027
499
c SPN290 Spinocerebellar Ataxia 15 28 0.027
500
c CTR130 Cataract 9, Multiple Types 27 0.027
501
PLY117 Polymicrogyria, Bilateral Frontoparietal 28 0.027
502
UND005 Undifferentiated Pleomorphic Sarcoma 28 0.027
503
c MGR032 Migraine, Familial Hemiplegic, 1 27 0.027
504
c CHR160 Chiari Malformation Type 2 26 0.027
505
c CRN139 Cornelia De Lange Syndrome 1 26 0.027
506
c HRM017 Hermansky-Pudlak Syndrome 2 27 0.027
507
c SPN312 Spinocerebellar Ataxia 14 27 0.027
508
c OST126 Osteopetrosis, Autosomal Recessive 1 27 0.027
509
P CMM008 Communicating Hydrocephalus 25 0.027
510
FRG010 Fragile X Tremor/ataxia Syndrome 26 0.027
511
P CRB101 Cerebrooculofacioskeletal Syndrome 1 26 0.027
512
c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 26 0.027
513
c LBR009 Leber Congenital Amaurosis 14 26 0.027
514
P THM010 Thiamine Metabolism Dysfunction Syndrome 2 25 0.027
515
c STR085 Striatonigral Degeneration, Infantile 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
PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 24 0.027
519
PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 24 0.027
520
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 24 0.027
521
OLG014 Oligocone Trichromacy 24 0.027
522
PHS021 Phosphoglycerate Dehydrogenase Deficiency 25 0.027
523
c PSD058 Pseudohypoparathyroidism Ic 25 0.027
524
CRL001 Cerulean Cataract 24 0.027
525
P CTS012 Cutis Verticis Gyrata 25 0.027
526
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 24 0.027
527
c SPN100 Spinocerebellar Ataxia 27 24 0.027
528
c LBR015 Leber Congenital Amaurosis 5 23 0.027
529
c PSD067 Pseudohypoparathyroidism Ia 24 0.027
530
c JBR012 Joubert Syndrome 5 24 0.027
531
c SPN308 Spinocerebellar Ataxia 28 24 0.027
532
c LBR013 Leber Congenital Amaurosis 3 23 0.027
533
BSL004 Basilar Artery Occlusion 23 0.027
534
c SPN094 Spinocerebellar Ataxia 18 22 0.027
535
c SPN095 Spinocerebellar Ataxia 19 22 0.027
536
BND015 Band-Like Calcification with Simplified Gyration and Polymicrogyria 23 0.027
537
c LBR019 Leber Congenital Amaurosis 9 22 0.027
538
c NPH053 Nephronophthisis 11 22 0.027
539
P VTR010 Vitreoretinochoroidopathy 22 0.027
540
INF129 Infantile Cerebellar-Retinal Degeneration 22 0.027
541
c OST136 Osteopetrosis, Autosomal Recessive 7 23 0.027
542
c CTR102 Cataract 2, Multiple Types 22 0.027
543
c PNT030 Pontocerebellar Hypoplasia, Type 8 21 0.027
544
MLY006 Molybdenum Cofactor Deficiency a 21 0.027
545
ENC039 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 22 0.027
546
P JBR017 Joubert Syndrome-3 22 0.027
547
c SPN305 Spinocerebellar Ataxia 11 22 0.027
548
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 21 0.027
549
c SPN096 Spinocerebellar Ataxia 21 22 0.027
550
c LBR007 Leber Congenital Amaurosis 12 21 0.027
551
CRB027 Cerebellar Disease 21 0.027
552
MCR110 Microphthalmia with Coloboma 6, Digenic 21 0.027
553
c WRD020 Waardenburg Syndrome, Type 4a 22 0.027
554
PCW002 Pcwh Syndrome 21 0.027
555
c NRM008 Neuromyelitis Optica Spectrum Disorder 21 0.027
556
HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 21 0.027
557
c HRM012 Hermansky-Pudlak Syndrome 9 21 0.027
558
c LBR010 Leber Congenital Amaurosis 15 21 0.027
559
c SPN103 Spinocerebellar Ataxia 31 21 0.027
560
c SPN283 Spinocerebellar Ataxia 37 22 0.027
561
c SPS064 Spastic Paraplegia 45 21 0.027
562
c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 21 0.027
563
c PNT033 Pontocerebellar Hypoplasia, Type 10 21 0.027
564
c ALB015 Albinism, Oculocutaneous, Type V 21 0.027
565
PYR025 Pyruvate Dehydrogenase E2 Deficiency 20 0.027
566
c PNT018 Pontocerebellar Hypoplasia, Type 1b 21 0.027
567
c EXD004 Exudative Vitreoretinopathy 4 20 0.027
568
MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 21 0.027
569
c SPN299 Spinocerebellar Ataxia 20 21 0.027
570
c SPN098 Spinocerebellar Ataxia 25 20 0.027
571
c USH026 Usher Syndrome Type 3b 20 0.027
572
c JBR024 Joubert Syndrome 14 20 0.027
573
AXL006 Axial Spondylometaphyseal Dysplasia 20 0.027
574
P NRD009 Neurodegeneration with Brain Iron Accumulation 2b 19 0.027
575
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 20 0.027
576
CMB018 Combined Oxidative Phosphorylation Deficiency 7 19 0.027
577
P CHR348 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 19 0.027
578
ARM003 Aromatic Amino Acid Decarboxylase Deficiency 19 0.027
579
CMB012 Combined Oxidative Phosphorylation Deficiency 1 19 0.027
580
MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 19 0.027
581
c JBR018 Joubert Syndrome 4 20 0.027
582
P LKD010 Leukodystrophy, Hypomyelinating, 2 19 0.027
583
c EPL141 Epilepsy, Progressive Myoclonic 5 20 0.027
584
c TRC067 Trichothiodystrophy, Nonphotosensitive 1 19 0.027
585
c SPN099 Spinocerebellar Ataxia 26 19 0.027
586
LKN008 Leukoencephalopathy, Cystic, Without Megalencephaly 19 0.027
587
c CNG200 Congenital Disorder of Glycosylation, Type Iq 19 0.027
588
CMB015 Combined Oxidative Phosphorylation Deficiency 4 19 0.027
589
c SPS116 Spastic Paraplegia 26, Autosomal Recessive 19 0.027
590
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 19 0.027
591
c ATX016 Ataxia, Spastic, 4 19 0.027
592
PRD011 Proud Syndrome 19 0.027
593
c SPS136 Spastic Ataxia 3, Autosomal Recessive 18 0.027
594
SLC020 Sialic Acid Storage Disorder, Infantile 19 0.027
595
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 18 0.027
596
BRN036 Brain Stem Infarction 19 0.027
597
CNR031 Cone-Rod Dystrophy, X-Linked, 1 19 0.027
598
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 18 0.027
599
MTC063 Mitochondrial Dna Depletion Syndrome 3 18 0.027
600
c NGH016 Night Blindness, Congenital Stationary , 1c, Autosomal Recessive 18 0.027
601
c JBR014 Joubert Syndrome 9 18 0.027
602
c JBR011 Joubert Syndrome 7 18 0.027
603
c KNB004 Knobloch Syndrome, Type 1 19 0.027
604
CMB048 Combined Oxidative Phosphorylation Deficiency 15 18 0.027
605
RTN035 Retinal Cone Dystrophy 3b 18 0.027
606
c SPS152 Spastic Paraplegia 51, Autosomal Recessive 19 0.027
607
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 19 0.027
608
VRT001 Vertebral Artery Occlusion 18 0.027
609
P OPT045 Optic Atrophy-7 18 0.027
610
RTN084 Retinal Cone Dystrophy 3 17 0.027
611
c PRX059 Peroxisome Biogenesis Disorder 1a 17 0.027
612
c LBR011 Leber Congenital Amaurosis 16 17 0.027
613
c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 17 0.027
614
c GNT027 Giant Axonal Neuropathy-1 18 0.027
615
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 17 0.027
616
c SNR004 Senior-Loken Syndrome 4 17 0.027
617
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 17 0.027
618
c CNG205 Congenital Disorder of Glycosylation, Type Ij 17 0.027
619
CND012 Cone Dystrophy 4 17 0.027
620
ENC023 Encephalopahty, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 17 0.027
621
HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 17 0.027
622
c FRD006 Friedreich Ataxia 2 18 0.027
623
c ALB016 Albinism, Oculocutaneous, Type Vii 17 0.027
624
c CNG389 Congenital Disorder of Glycosylation, Type Iim 17 0.027
625
MLY005 Molybdenum Cofactor Deficiency B 17 0.027
626
CNR014 Cone-Rod Dystrophy 16 17 0.027
627
ATX018 Ataxia, Cerebellar, Cayman Type 17 0.027
628
CRB108 Cerebral Palsy, Ataxic, Autosomal Recessive 17 0.027
629
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 16 0.027
630
c SPN102 Spinocerebellar Ataxia 30 17 0.027
631
P SPN202 Spinocerebellar Ataxia, X-Linked 1 16 0.027
632
CPS001 Capos Syndrome 17 0.027
633
c EPS034 Episodic Ataxia, Type 5 17 0.027
634
c LKD019 Leukodystrophy, Hypomyelinating, 6 17 0.027
635
c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 16 0.027
636
c NGH015 Night Blindness, Congenital Stationary , 2b, Autosomal Recessive 16 0.027
637
c GCH013 Gaucher Disease, Type Iiic 16 0.027
638
P HYP534 Hypomagnesemia 3, Renal 16 0.027
639
c LKD008 Leukodystrophy, Hypomyelinating, 4 16 0.027
640
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 16 0.027
641
c PRR020 Perrault Syndrome 1 15 0.027
642
c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 15 0.027
643
c SCL045 Sclerosteosis 1 15 0.027
644
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 16 0.027
645
URC006 Urocanase Deficiency 15 0.027
646
c MCR228 Microphthalmia, Syndromic 13 15 0.027
647
MTC058 Mitochondrial Dna Depletion Syndrome 6 16 0.027
648
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 14 0.027
649
c CRB100 Cerebrooculofacioskeletal Syndrome 4 14 0.027
650
NRX004 Neuroaxonal Neurodegeneration, Infantile, with Facial Dysmophism 14 0.027
651
HYP213 Hypomelanotic Disorder 15 0.027
652
P INT105 Intellectual Disability Multi-Gene Panels 15 0.027
653
P SPS133 Spastic Paraplegia 2, X-Linked 14 0.027
654
c WRB004 Warburg Micro Syndrome 3 15 0.027
655
c NGH017 Night Blindness, Congenital Stationary , 1d, Autosomal Recessive 14 0.027
656
RDG001 Red-Green Color Blindness 15 0.027
657
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 15 0.027
658
c NGH018 Night Blindness, Congenital Stationary , 1e, Autosomal Recessive 15 0.027
659
c SPS142 Spastic Ataxia 2, Autosomal Recessive 14 0.027
660
c ACR081 Aicardi-Goutieres Syndrome 6 14 0.027
661
c NPH069 Nephronophthisis 15 14 0.027
662
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 14 0.027
663
MTC088 Mitochondrial Dna Depletion Syndrome 13 14 0.027
664
CHR073 Choreatic Disease 15 0.027
665
CHR382 Chromosome 18q Deletion Syndrome 15 0.027
666
c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 13 0.027
667
MTC079 Mitochondrial Pyruvate Carrier Deficiency 13 0.027
668
SPN126 Spondyloepimetaphyseal Dysplasia Genevieve Type 14 0.027
669
c CNG201 Congenital Disorder of Glycosylation, Type Iij 13 0.027
670
LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 14 0.027
671
c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 13 0.027
672
CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 13 0.027
673
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 13 0.027
674
LKN009 Leukoencephalopathy with Metaphyseal Chondrodysplasia 14 0.027
675
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 13 0.027
676
EPL138 Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 13 0.027
677
c BSL032 Basal Ganglia Calcification, Idiopathic, 4 13 0.027
678
MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 12 0.027
679
LKN018 Leukoencephalopathy, Progressive, with Ovarian Failure 12 0.027
680
c SNR011 Senior-Loken Syndrome 3 13 0.027
681
BRW008 Brown-Vialetto-Van Laere Syndrome 2 12 0.027
682
ACC002 Accommodative Spasm 13 0.027
683
CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 12 0.027
684
c MNT213 Mental Retardation, Autosomal Recessive 40 12 0.027
685
NRD013 Neurodegeneration with Optic Atrophy, Childhood Onset 12 0.027
686
OCL048 Oculoauricular Syndrome 12 0.027
687
BSC005 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 12 0.027
688
c EPS025 Episodic Ataxia Type 4 12 0.027
689
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 12 0.027
690
MTC092 Mitochondrial Complex Deficiency, Nuclear Type 4 11 0.027
691
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 11 0.027
692
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 12 0.027
693
PRT097 Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 11 0.027
694
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 11 0.027
695
c SPN203 Spinocerebellar Ataxia, X-Linked 5 12 0.027
696
PRT101 Poretti-Boltshauser Syndrome 11 0.027
697
ATX024 Ataxia-Oculomotor Apraxia 3 10 0.027
698
CHR501 Chromosome 17q12 Deletion Syndrome 11 0.027
699
CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 11 0.027
700
MRL004 Morillo-Cucci-Passarge Syndrome 11 0.027
701
c LKD016 Leukodystrophy, Hypomyelinating, 9 11 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