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

523 hits were found for 'nystagmus'

# Family MCID Name MIFTS Score
1
XLN065 X-Linked Infantile Nystagmus 11 4.652
2
P CNG024 Congenital Nystagmus 40 4.522
3
VST003 Vestibular Nystagmus 27 4.275
4
SPN033 Spontaneous Ocular Nystagmus 18 3.914
5
P NYS002 Nystagmus 1, Congenital, X- Linked 18 3.832
6
SPL021 Split Hand Split Foot Nystagmus 18 3.660
7
FRM005 Frmd7-Related Infantile Nystagmus 9 3.619
8
c CNG161 Congenital Nystagmus 6, X-Linked 13 3.542
9
NYS007 Nystagmus, Hereditary Vertical 2 3.542
10
DSS005 Dissociated Nystagmus 12 3.277
11
c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 6 3.277
12
NYS008 Nystagmus, Myoclonic 1 3.168
13
BNG018 Benign Paroxysmal Positional Nystagmus 29 2.852
14
c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 3 2.852
15
c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 4 2.843
16
CHL091 Tremors, Nystagmus and Duodenal Ulcers 4 2.775
17
CHL091 Polymicrogyria Turricephaly Hypogenitalism 4 2.775
18
CHR165 Chorea, Remitting with Nystagmus and Cataracts 2 2.775
19
P BMN001 Biemond Syndrome 19 2.760
20
NHS001 Neuhauser Daly Magnelli Syndrome 10 2.760
21
CTR020 Cataract, Microphthalmia and Nystagmus 1 2.760
22
EPS008 Episodic Ataxia with Nystagmus 11 2.329
23
c NYS010 Nystagmus 3, Congenital 4 2.329
24
c NYS011 Nystagmus 4, Congenital 4 2.329
25
HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 2 2.317
26
PTH003 Pathologic Nystagmus 7 2.305
27
LWR008 Lowry Wood Syndrome 20 2.291
28
MNT193 Mental Retardation, with or Without Nystagmus 11 2.240
29
NYS015 Nystagmus, Infantile Periodic Alternating, X-Linked 9 2.240
30
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 5 2.240
31
c NYS012 Nystagmus 5, Congenital, X-Linked 3 2.240
32
c NYS014 Nystagmus 7, Congenital 3 2.240
33
NYS006 Nystagmus, Congenital Motor, Autosomal Recessive 0 2.240
34
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 18 1.584
35
ODN003 O Donnell Pappas Syndrome 13 1.584
36
MNZ002 Manz Syndrome 6 1.584
37
MNT023 Mental Retardation Mietens Weber Type 5 1.584
38
MMN001 Maumenee Syndrome 3 1.584
39
SLN003 Silengo Lerone Pelizza Syndrome 3 1.584
40
SNG001 Singh Chhaparwal Dhanda Syndrome 2 1.584
41
ALB002 Albinism 50 0.180
42
SPL040 Split Hand 27 0.178
43
P NGH017 Night Blindness, Congenital Stationary , 1d, Autosomal Recessive 37 0.175
44
c OPH004 Ophthalmoplegia 52 0.160
45
INT042 Internuclear Ophthalmoplegia 29 0.157
46
NRN002 Neuronitis 64 0.144
47
VST001 Vestibular Neuronitis 33 0.144
48
SPS087 Spasmus Nutans 11 0.140
49
P ATX002 Ataxia Telangiectasia 93 0.133
50
c GLC030 Glaucoma, Congenital 25 0.133
51
RHY001 Rhyns Syndrome 49 0.126
52
ANK002 Ankylosing Spondylitis 75 0.122
53
P STR020 Strabismus 56 0.122
54
THR013 Thoracic Outlet Syndrome 54 0.122
55
P CND011 Cone Dystrophy 3 46 0.122
56
TFT003 Tufting Enteropathy 21 0.122
57
DWN001 Down Syndrome 62 0.117
58
IDP042 Idiopathic Recurrent Stupor 15 0.117
59
EXT022 Exotropia 40 0.109
60
c ATX004 Ataxia 38 0.109
61
P MYP018 Myopia 6 29 0.109
62
RTN023 Retinitis 61 0.104
63
P SPL033 Split-Hand/foot Malformation 6 36 0.104
64
DNT005 Dentatorubral-Pallidoluysian Atrophy 61 0.099
65
MTN003 Motion Sickness 57 0.099
66
CNR017 Cone-Rod Dystrophy 9 19 0.099
67
c EPS003 Episodic Ataxia 55 0.094
68
EVN001 Evans' Syndrome 54 0.094
69
P CNG010 Congenital Stationary Night Blindness 51 0.094
70
P ACH020 Achromatopsia 2 49 0.094
71
MNN014 Mononeuritis 48 0.094
72
SYN053 Syndromic Diarrhea 42 0.094
73
OCL001 Ocular Albinism 42 0.094
74
c KCN007 Kcnj13-Related Leber Congenital Amaurosis 10 0.094
75
ACN002 Acanthosis Nigricans 73 0.089
76
c OCL002 Oculocutaneous Albinism 60 0.089
77
SCN006 Secondary Syphilis 55 0.089
78
c CTR002 Cataract 53 0.089
79
P BRD043 Bardet-Biedl Syndrome, Modifier of 53 0.089
80
CNR004 Cone-Rod Dystrophy 2 53 0.089
81
P NGH001 Night Blindness 53 0.089
82
P SPN068 Spinocerebellar Ataxia Type 6 50 0.089
83
BLC001 Blue Cone Monochromacy 42 0.089
84
VST004 Vestibular Disease 28 0.089
85
HNM002 Hinman Syndrome 24 0.089
86
PLM108 Pulmonary Interstitial Glycogenosis 14 0.089
87
GLL008 Gilles De La Tourette Syndrome 73 0.083
88
ANR002 Aniridia 71 0.083
89
SPN050 Spinocerebellar Degeneration 43 0.083
90
c SPL037 Split Hand Foot Malformation 25 0.083
91
P BRD002 Bardet-Biedl Syndrome 71 0.077
92
CRB042 Cerebellar Ataxia 66 0.077
93
CRB009 Cerebritis 56 0.077
94
RFR003 Refractive Error 53 0.077
95
c SPN049 Spinocerebellar Ataxia 51 0.077
96
ENT001 Enterocele 42 0.077
97
EST005 Esotropia 36 0.077
98
ERL004 Early Yaws 33 0.077
99
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 28 0.077
100
BLC014 Blue Cone Monochromatism 12 0.077
101
P LBR001 Leber Congenital Amaurosis 83 0.070
102
WST001 West Syndrome 64 0.070
103
P OCL017 Oculocutaneous Albinism Type 1 62 0.070
104
CNR002 Cone-Rod Dystrophy 58 0.070
105
P CRV039 Cervicitis 52 0.070
106
MNR002 Meniere's Disease 52 0.070
107
c CND005 Cone Dystrophy 45 0.070
108
AST006 Astigmatism 41 0.070
109
OCL046 Ocular Albinism, Type I, Nettleship-Falls Type 33 0.070
110
WBR001 Weber Syndrome 33 0.070
111
ABL001 Ablepharon Macrostomia Syndrome 29 0.070
112
OCL016 Ocular Albinism, X-Linked 28 0.070
113
P OCL041 Oculomotor Apraxia Cogan Type 18 0.070
114
CNG272 Congenital Achiasma 5 0.070
115
HPT023 Hepatocellular Carcinoma 89 0.063
116
c LCL006 Localized Scleroderma 68 0.063
117
ART001 Arterial Tortuosity Syndrome 62 0.063
118
c OCL018 Oculocutaneous Albinism Type 2 58 0.063
119
MYC002 Mycobacterium Avium Complex Disease 57 0.063
120
SNS001 Sensorineural Hearing Loss 56 0.063
121
NRT004 Neuritis 51 0.063
122
c ACH003 Achromatopsia 49 0.063
123
KRT002 Keratomalacia 47 0.063
124
c LBR029 Leber Congenital Amaurosis 17 44 0.063
125
P ATX010 Ataxia Neuropathy Spectrum 44 0.063
126
AND003 Andersen-Tawil Syndrome 43 0.063
127
c BLN003 Blindness 37 0.063
128
LKM059 Leukemia, Megakaryoblastic, with or Without Down Syndrome, Somatic 33 0.063
129
HVD003 Hiv/aids 29 0.063
130
LTR003 Lateral Medullary Syndrome 27 0.063
131
c XLN012 X-Linked Congenital Stationary Night Blindness 24 0.063
132
CNG101 Congenital Human Immunodeficiency Virus 20 0.063
133
P RFS001 Refsum Disease 83 0.054
134
P RTN008 Retinitis Pigmentosa 81 0.054
135
P PLZ001 Pelizaeus-Merzbacher Disease 78 0.054
136
P MGR002 Migraine 71 0.054
137
P ANG001 Angelman Syndrome 70 0.054
138
PSY004 Psychotic Disorder 69 0.054
139
ART019 Aortic Valve Stenosis 68 0.054
140
c HYP086 Hypothyroidism 68 0.054
141
c ENC004 Encephalitis 64 0.054
142
NTR001 Neutral Lipid Storage Disease 59 0.054
143
P LBY004 Labyrinthitis 53 0.054
144
c JBR001 Joubert Syndrome 51 0.054
145
SPR016 Spermatic Cord Torsion 49 0.054
146
c EPS007 Episodic Ataxia Type 2 49 0.054
147
LSS007 Lissencephaly X-Linked 49 0.054
148
P JVN024 Juvenile Hereditary Hemochromatosis 35 0.054
149
c LBR004 Leber Congenital Amaurosis 1 29 0.054
150
LKN007 Leukonychia Totalis 26 0.054
151
HRD009 Hereditary Wilms' Tumor 21 0.054
152
VSL005 Visual Pathway Disease 16 0.054
153
c PRM041 Primary Cortisol Resistance 13 0.054
154
c NGH019 Night Blindness, Congenital Stationary , 1a, X-Linked 11 0.054
155
P MLT007 Multiple Epiphyseal Dysplasia 77 0.044
156
P FRG001 Fragile X Syndrome 75 0.044
157
P AST007 Astrocytoma 72 0.044
158
c HYD006 Hydrocephalus 70 0.044
159
P PRG006 Progressive Supranuclear Palsy 70 0.044
160
RLP001 Relapsing Polychondritis 69 0.044
161
PTR006 Peters Plus Syndrome 67 0.044
162
KLP002 Klippel-Trenaunay Syndrome 67 0.044
163
CRY002 Cryptorchidism 66 0.044
164
LBR002 Leber Hereditary Optic Neuropathy 63 0.044
165
SPT014 Septo-Optic Dysplasia 63 0.044
166
NRP001 Neuropathy 61 0.044
167
ARC002 Arachnoiditis 57 0.044
168
APP001 Apparent Mineralocorticoid Excess Syndrome 56 0.044
169
P THR090 Thrombocythemia 1 54 0.044
170
ADL002 Adult Syndrome 52 0.044
171
c FML023 Familial Hemiplegic Migraine 51 0.044
172
SCH016 Schimke Immunoosseous Dysplasia 49 0.044
173
DYS018 Dysostosis 49 0.044
174
CHY002 Chylomicron Retention Disease 49 0.044
175
HRD026 Hereditary Ataxia 48 0.044
176
CCH002 Coach Syndrome 48 0.044
177
P OTS001 Otosclerosis 46 0.044
178
AMB002 Amblyopia 46 0.044
179
c STS001 Sotos Syndrome 45 0.044
180
P PRX064 Peroxisome Biogenesis Disorder 2b 45 0.044
181
WRN003 Wernicke Encephalopathy 44 0.044
182
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 44 0.044
183
DVL002 Developmental Disabilities 44 0.044
184
TTR016 Tetra-Amelia Syndrome 43 0.044
185
HV1006 Hiv-1 42 0.044
186
P CLR019 Color Blindness 42 0.044
187
c MYP006 Myopia 41 0.044
188
c RSM001 Rasmussen Encephalitis 37 0.044
189
P SCH023 Schindler Disease, Type 1 36 0.044
190
MNT147 Mental Retardation 35 0.044
191
NNC002 Nance-Horan Syndrome 34 0.044
192
c GRS007 Griscelli Syndrome Type 1 34 0.044
193
c OCL035 Oculocutaneous Albinism Type 1b 34 0.044
194
ADS002 Adie Syndrome 33 0.044
195
MYC033 Myoclonus 33 0.044
196
P CHR104 Chorea 32 0.044
197
XLN107 X-Linked Lissencephaly with Abnormal Genitalia 31 0.044
198
HYP265 Hypotonia 30 0.044
199
c FRT001 Fourth Cranial Nerve Palsy 30 0.044
200
HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 29 0.044
201
SPL039 Split Foot 27 0.044
202
FBR064 Febrile Infection-Related Epilepsy Syndrome 27 0.044
203
c LBR012 Leber Congenital Amaurosis 2 25 0.044
204
OCL033 Oculocerebral Syndrome with Hypopigmentation 25 0.044
205
CNG049 Congenital Stromal Corneal Dystrophy 24 0.044
206
CRB029 Cerebellopontine Angle Tumor 23 0.044
207
PRG075 Progressive Bifocal Chorioretinal Atrophy 21 0.044
208
c BNG076 Benign Exophthalmos Syndrome 21 0.044
209
FVL004 Foveal Hyperplasia 20 0.044
210
OCL011 Ocular Motility Disease 20 0.044
211
AND005 Androgen Insensitivity Syndrome, Mild 18 0.044
212
c LBR018 Leber Congenital Amaurosis 8 18 0.044
213
HYP213 Hypomelanotic Disorder 15 0.044
214
c LBR016 Leber Congenital Amaurosis 6 15 0.044
215
XLN108 X-Linked Intellectual Disability Due to Gria3 Anomalies 15 0.044
216
c LBR006 Leber Congenital Amaurosis 11 14 0.044
217
P ISC010 Isochromosome Yp 14 0.044
218
c LBR017 Leber Congenital Amaurosis 7 14 0.044
219
BLM003 Blue-Mono-Cone-Monochromatic Type Colorblindness 9 0.044
220
P AMY001 Amyotrophic Lateral Sclerosis 100 0.031
221
VNH001 Von Hippel-Lindau Disease 89 0.031
222
MTC003 Metachromatic Leukodystrophy 87 0.031
223
P SMT004 Smith-Lemli-Opitz Syndrome 84 0.031
224
GLN003 Glanzmann's Thrombasthenia 80 0.031
225
P MYS003 Myasthenia Gravis 79 0.031
226
OLV001 Olivopontocerebellar Atrophy 77 0.031
227
MLT021 Multiple System Atrophy 76 0.031
228
P CRD013 Cardiofaciocutaneous Syndrome 74 0.031
229
P ALX003 Alexander Disease 74 0.031
230
P STR022 Stargardt Disease 74 0.031
231
CHD001 Chediak-Higashi Syndrome 74 0.031
232
OCL005 Oculocerebrorenal Syndrome 73 0.031
233
ATS001 Autistic Disorder 72 0.031
234
c CNG006 Congenital Hypothyroidism 72 0.031
235
P WLF004 Wolfram Syndrome 71 0.031
236
P TMP003 Temporal Arteritis 69 0.031
237
P NNN008 Noonan Syndrome 1 69 0.031
238
NRR002 Norrie Disease 67 0.031
239
ADN018 Adenoma 67 0.031
240
STT001 Status Epilepticus 66 0.031
241
P HMP002 Hemophagocytic Lymphohistiocytosis 66 0.031
242
GLD001 Goldenhar Syndrome 65 0.031
243
CHR103 Charge Syndrome 65 0.031
244
ERD001 Erdheim-Chester Disease 64 0.031
245
ISC004 Ischemia 64 0.031
246
PTT006 Pituitary Adenoma 64 0.031
247
P NRM001 Neuromyelitis Optica 64 0.031
248
HRT004 Hartnup Disease 63 0.031
249
CHR452 Chorea-Acanthocytosis 62 0.031
250
CRN036 Craniopharyngioma 62 0.031
251
RBR001 Roberts Syndrome 62 0.031
252
ALS001 Alstrom Syndrome 62 0.031
253
BRN029 Brain Disease 62 0.031
254
EYD002 Eye Disease 60 0.031
255
ALP008 Alopecia 60 0.031
256
WLF002 Wolf-Hirschhorn Syndrome 60 0.031
257
ACS001 Acoustic Neuroma 60 0.031
258
BRJ001 Borjeson-Forssman-Lehmann Syndrome 59 0.031
259
ACR008 Acrocallosal Syndrome 59 0.031
260
P CLF002 Cleft Palate 59 0.031
261
CLF001 Cleft Lip 59 0.031
262
FRB001 Farber Lipogranulomatosis 58 0.031
263
SPN008 Spondyloepiphyseal Dysplasia Congenita 58 0.031
264
RTN018 Retinal Disease 58 0.031
265
LKD001 Leukodystrophy 58 0.031
266
HNT002 Hantavirus Pulmonary Syndrome 57 0.031
267
CRN017 Coronary Thrombosis 57 0.031
268
CHR008 Choroiditis 57 0.031
269
c TMP001 Temporal Lobe Epilepsy 57 0.031
270
c HRM001 Hermansky-Pudlak Syndrome 57 0.031
271
P DND001 Dandy-Walker Syndrome 56 0.031
272
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 56 0.031
273
WGR001 Wagr Syndrome 56 0.031
274
P ALT001 Alternating Hemiplegia of Childhood 55 0.031
275
ATX019 Ataxia with Vitamin E Deficiency 55 0.031
276
DYS014 Dyspepsia 55 0.031
277
NRL005 Neurilemmoma 55 0.031
278
P HLL001 Hallermann-Streiff Syndrome 54 0.031
279
P CNG021 Congenital Toxoplasmosis 54 0.031
280
P CFF001 Coffin-Siris Syndrome 54 0.031
281
P HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 54 0.031
282
SPN020 Spondylosis 54 0.031
283
MCR013 Microphthalmia 53 0.031
284
ACR012 Aicardi Syndrome 53 0.031
285
CHN016 Cohen Syndrome 53 0.031
286
HWK001 Hawkinsinuria 53 0.031
287
PRP023 Peripheral Neuropathy 53 0.031
288
HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 52 0.031
289
P FNC044 Fanconi Anemia, Complementation Group C 52 0.031
290
c SYN001 Syndactyly 52 0.031
291
P JBR004 Joubert Syndrome 2 52 0.031
292
P INT063 Intellectual Disability 51 0.031
293
RNL029 Renal Coloboma Syndrome 51 0.031
294
PTT004 Pituitary Apoplexy 51 0.031
295
BLL001 Baller-Gerold Syndrome 51 0.031
296
P HRM005 Hermansky-Pudlak Syndrome 1 51 0.031
297
c GNG009 Gangliosidosis 51 0.031
298
c LSS002 Lissencephaly 51 0.031
299
DBW001 Dubowitz Syndrome 51 0.031
300
ASP001 Asperger Syndrome 50 0.031
301
c MCL013 Mucolipidosis Iv 50 0.031
302
CNV002 Conversion Disorder 50 0.031
303
BRN032 Brain Glioma 50 0.031
304
P USH004 Usher Syndrome Type 2a 50 0.031
305
FRY002 Fryns Syndrome 49 0.031
306
ARS002 Arsacs 49 0.031
307
c TYR003 Tyrosinemia Type Ii 49 0.031
308
P OCL013 Oculodentodigital Dysplasia 49 0.031
309
FCL012 Facial Paralysis 49 0.031
310
1P3001 1p36 Deletion Syndrome 48 0.031
311
P MWT001 Mowat-Wilson Syndrome 48 0.031
312
MJD001 Majeed Syndrome 48 0.031
313
MLK003 Melkersson-Rosenthal Syndrome 48 0.031
314
GRS002 Gerstmann-Straussler-Scheinker Disease 47 0.031
315
P CRN139 Cornelia De Lange Syndrome 1 47 0.031
316
P OP3001 Opa3-Related 3-Methylglutaconic Aciduria 47 0.031
317
P RTN016 Retinal Degeneration 47 0.031
318
c ASP005 Asphyxiating Thoracic Dystrophy 46 0.031
319
INC001 Incontinentia Pigmenti Achromians 46 0.031
320
DNR002 Duane-Radial Ray Syndrome 46 0.031
321
P OST051 Osteopetrosis Autosomal Recessive 1 46 0.031
322
HMM003 Hemimegalencephaly 45 0.031
323
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 45 0.031
324
MLL002 Miller Fisher Syndrome 45 0.031
325
CRT012 Cortical Blindness 45 0.031
326
FRN002 Frontal Lobe Epilepsy 44 0.031
327
RCR001 Recurrent Corneal Erosion 44 0.031
328
P FML165 Familial Hemiplegic Migraine Type 1 44 0.031
329
NRN008 Neuronal Intranuclear Inclusion Disease 44 0.031
330
c JBR026 Joubert Syndrome 15 43 0.031
331
MRS002 Marshall Syndrome 43 0.031
332
P GM1003 Gm1 Gangliosidosis Type 3 43 0.031
333
c SNR001 Senior-Loken Syndrome 43 0.031
334
c USH006 Usher Syndrome, Type 1b 43 0.031
335
c CTR098 Cataract 1, Multiple Types 43 0.031
336
SCT002 Scotoma 42 0.031
337
P CRN108 Cranioectodermal Dysplasia 1 42 0.031
338
c CNG124 Congenital Rubella 42 0.031
339
P SLD005 Sialidosis Type I 42 0.031
340
DNR001 Duane Retraction Syndrome 41 0.031
341
P DNS004 Duane Syndrome Type 2 41 0.031
342
c WLM002 Wilms Tumor 41 0.031
343
OBS004 Obstructive Hydrocephalus 41 0.031
344
OCL014 Oculofaciocardiodental Syndrome 40 0.031
345
JBR007 Joubert Syndrome with Renal Anomalies 40 0.031
346
P WLM008 Wilms Tumor, Type 1 39 0.031
347
LGH003 Leigh Syndrome, French Canadian Type 39 0.031
348
CLB003 Coloboma of Optic Nerve 39 0.031
349
HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 38 0.031
350
c OCL019 Oculocutaneous Albinism Type 4 38 0.031
351
P BRN035 Brain Stem Glioma 38 0.031
352
c CNG011 Congenital Disorder of Glycosylation Type Ii 38 0.031
353
MVM001 Movement Disease 38 0.031
354
P KBK002 Kabuki Syndrome 1 37 0.031
355
c JBR024 Joubert Syndrome 14 37 0.031
356
P MRN007 Marinesco-Sjögren Syndrome 36 0.031
357
P PRR020 Perrault Syndrome 1 36 0.031
358
PRP028 Peripheral Vertigo 36 0.031
359
c JBR016 Joubert Syndrome 10 36 0.031
360
ALN001 Aland Island Eye Disease 36 0.031
361
CRB027 Cerebellar Disease 35 0.031
362
P HYD008 Hydrocephalus Due to Aqueductal Stenosis 35 0.031
363
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 35 0.031
364
GPS001 Gapo Syndrome 33 0.031
365
PRD015 Proud Levine Carpenter Syndrome 33 0.031
366
CHR174 Christianson Syndrome 33 0.031
367
INF047 Infantile Free Sialic Acid Storage Disease 33 0.031
368
P INF069 Infantile Neuroaxonal Dystrophy 1 32 0.031
369
P BLP012 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 32 0.031
370
P HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 32 0.031
371
CRB026 Cerebellar Astrocytoma 32 0.031
372
ORB013 Orbital Disease 32 0.031
373
c ACH021 Achromatopsia 3 32 0.031
374
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 31 0.031
375
P CMM008 Communicating Hydrocephalus 31 0.031
376
BRK004 Barakat Syndrome 30 0.031
377
PRS055 Pierson Syndrome 30 0.031
378
ECT038 Ectopia Lentis, Familial 29 0.031
379
CTR004 Cataract and Cardiomyopathy 29 0.031
380
P MCR083 Microphthalmia Syndromic 6 29 0.031
381
P CHR269 Chromosome 9p Deletion 29 0.031
382
c OCL036 Oculocutaneous Albinism Type 3 29 0.031
383
KFM001 Kaufman Oculocerebrofacial Syndrome 29 0.031
384
DSM002 Desmosterolosis 28 0.031
385
c SPN074 Spinocerebellar Ataxia Type 13 28 0.031
386
P KNB003 Knobloch Syndrome Type I 28 0.031
387
c HMP008 Hemophagocytic Lymphohistiocytosis, Familial 28 0.031
388
P SPS133 Spastic Paraplegia 2, X-Linked 28 0.031
389
CRB055 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 28 0.031
390
YNS001 Yunis Varon Syndrome 28 0.031
391
c ATS004 Autosomal Dominant Microcephaly 28 0.031
392
48X003 48,xxyy Syndrome 27 0.031
393
BHR001 Behr Syndrome 27 0.031
394
15Q002 15q24 Microdeletion Syndrome 27 0.031
395
PCW002 Pcwh Syndrome 27 0.031
396
P LNZ001 Lenz Microphthalmia Syndrome 27 0.031
397
VCS001 Vici Syndrome 27 0.031
398
CGN002 Cogan's Syndrome 27 0.031
399
BSL004 Basilar Artery Occlusion 27 0.031
400
SYN016 Syndactyly Cenani Lenz Type 27 0.031
401
OCL034 Oculocerebrocutaneous Syndrome 26 0.031
402
LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 26 0.031
403
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 26 0.031
404
ALB005 Albinism Ocular Late Onset Sensorineural Deafness 25 0.031
405
DSS010 Dissociative Disorder 25 0.031
406
CNR008 Cone-Rod Dystrophy Amelogenesis Imperfecta 25 0.031
407
16Q001 16q24.3 Microdeletion Syndrome 25 0.031
408
HV1005 Hiv-1 Viremia 25 0.031
409
BRN036 Brain Stem Infarction 25 0.031
410
CRN142 Corneal Endothelial Dystrophy and Perceptive Deafness 25 0.031
411
MNR008 Menieres Disease 25 0.031
412
c SPN070 Spinocerebellar Ataxia Type 8 25 0.031
413
P ORF012 Orofaciodigital Syndrome 8 24 0.031
414
JVN017 Juvenile Macular Degeneration and Hypotrichosis 24 0.031
415
6Q1001 6q16 Deletion Syndrome 24 0.031
416
HYP299 Hyperostosis, Endosteal 24 0.031
417
MCR163 Microphthalmia with Linear Skin Defects Syndrome 23 0.031
418
8P1001 8p11.2 Deletion Syndrome 23 0.031
419
NRC016 Neuroectodermal Melanolysosomal Disease 23 0.031
420
RCH002 Richards-Rundle Syndrome 23 0.031
421
P HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 23 0.031
422
MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 23 0.031
423
AGN008 Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia 23 0.031
424
BLP018 Blepharophimosis-Intellectual Deficit Syndrome, Ohdo Type 22 0.031
425
HSH001 Hashimoto-Pritzker Syndrome 22 0.031
426
GRL002 Gorlin Chaudhry Moss Syndrome 21 0.031
427
P KRN003 Kernicterus Due to Isoimmunization 21 0.031
428
HYP362 Hyperopia 21 0.031
429
RDC001 Red Color Blindness 21 0.031
430
MMS001 Momo Syndrome 21 0.031
431
MCR029 Micro Syndrome 21 0.031
432
HRD052 Hereditary Mucoepithelial Dysplasia 21 0.031
433
c SPN104 Spinocerebellar Ataxia 34 21 0.031
434
DYS045 Dysosteosclerosis 21 0.031
435
c FRN033 Frontonasal Dysplasia 2 20 0.031
436
RRD001 Reardon Wilson Cavanagh Syndrome 20 0.031
437
DNC004 Diencephalic Syndrome 20 0.031
438
MGL019 Megalocornea-Intellectual Deficit Syndrome 20 0.031
439
OLG014 Oligocone Trichromacy 20 0.031
440
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 20 0.031
441
LBY003 Labyrinthine Disease 20 0.031
442
LMB011 Limb Deficiencies Distal with Micrognathia 20 0.031
443
CRB064 Cerebelloparenchymal Disorder 3 20 0.031
444
c SPN177 Spinocerebellar Ataxia, Autosomal Recessive, 10 20 0.031
445
c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 19 0.031
446
RDG001 Red-Green Color Blindness 19 0.031
447
SPN257 Spinocerebellar Ataxia 29, Congenital Nonprogressive 19 0.031
448
TRC080 Trichomegaly - Retina Pigmentary Degeneration - Dwarfism 19 0.031
449
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 19 0.031
450
PCH008 Pachygyria - Epilepsy - Intellectual Deficit - Dysmorphism 19 0.031
451
MCR224 Microcephaly and Chorioretinopathy with or Without Mental Retardation 19 0.031
452
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 19 0.031
453
CRL001 Cerulean Cataract 17 0.031
454
FCL011 Facial Nerve Disease 17 0.031
455
INT177 Intellectual Deficit, X-Linked - Dysmorphism - Cerebral Atrophy 17 0.031
456
ACC002 Accommodative Spasm 17 0.031
457
SPN244 Spondylo-Ocular Syndrome 17 0.031
458
MTN005 Mietens Syndrome 17 0.031
459
P ATS031 Autosomal Recessive Cerebellar Ataxia Type 1 17 0.031
460
RTN124 Retinitis Pigmentosa - Intellectual Deficit - Deafness - Hypogenitalism 16 0.031
461
APL011 Aplasia Cutis Myopia 16 0.031
462
CDS002 Codas Syndrome 16 0.031
463
OCL056 Oculoosteocutaneous Syndrome 16 0.031
464
CTR007 Cataract Ataxia Deafness 16 0.031
465
c ALB017 Albinism, Oculocutaneous, Type Vi 16 0.031
466
c LKD010 Leukodystrophy, Hypomyelinating, 2 16 0.031
467
NNR005 Non-Rhizomelic Chondrodysplasia Punctata 16 0.031
468
HPT065 Hepatic Fibrosis - Renal Cysts - Intellectual Deficit 16 0.031
469
P 19P001 19p13.12 Microdeletion Syndrome 15 0.031
470
c XLN105 X-Linked Spastic Paraplegia Type 16 15 0.031
471
CDL001 Caudal Appendage Deafness 15 0.031
472
ERM001 Ermine Phenotype 15 0.031
473
CRN083 Craniofacial Dyssynostosis 15 0.031
474
XLN077 X-Linked Immunoneurologic Disorder 15 0.031
475
SHR054 Short Stature - Intellectual Deficit - Eye Anomalies - Cleft Lip/palate 15 0.031
476
MYL017 Myelocerebellar Disorder 15 0.031
477
CTR090 Cataract - Intellectual Deficit - Anal Atresia - Urinary Defects 15 0.031
478
NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 15 0.031
479
c DST045 Distal Trisomy 6p 15 0.031
480
SPN113 Spinocerebellar Ataxia with Dysmorphism 14 0.031
481
SBR006 Subaortic Stenosis Short Stature Syndrome 14 0.031
482
NSP011 Nasopalpebral Lipoma - Coloboma - Telecanthus 14 0.031
483
OCL032 Oculocerebral Hypopigmentation Syndrome Type Preus 14 0.031
484
FCL035 Facial Dysmorphism - Macrocephaly - Myopia - Dandy-Walker Malformation 14 0.031
485
MRL004 Morillo-Cucci-Passarge Syndrome 14 0.031
486
VND003 Van Den Bosch Syndrome 14 0.031
487
INT158 Intellectual Deficit - Hypoplastic Corpus Callosum - Preauricular Tag 14 0.031
488
CRB061 Cerebellar Hypoplasia Tapetoretinal Degeneration 14 0.031
489
NRX002 Neuroaxonal Dystrophy Renal Tubular Acidosis 14 0.031
490
WLL007 Wells-Jankovic Syndrome 14 0.031
491
DNN006 Duane Anomaly - Myopathy - Scoliosis 13 0.031
492
CTR091 Cataract - Nephropathy - Encephalopathy 13 0.031
493
PLL010 Pellagra-Like Skin Rash - Neurological Manifestations 13 0.031
494
OTP003 Oto-Palatal-Digital Syndrome 13 0.031
495
CRB129 Cerebro-Reno-Digital Syndrome 13 0.031
496
PRP071 Paraplegia - Intellectual Deficit - Hyperkeratosis 12 0.031
497
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 12 0.031
498
AMR005 Amaurosis - Hypertrichosis 12 0.031
499
UVL005 Uveal Coloboma - Cleft Lip and Palate - Intellectual Deficit 12 0.031
500
P SYN028 Syngnathia Multiple Anomalies 12 0.031
501
LRY036 Laryngeal Abductor Paralysis - Intellectual Deficit 12 0.031
502
RTN038 Retinal Dysplasia X-Linked 12 0.031
503
P INF044 Infantile Axonal Neuropathy 12 0.031
504
FTL019 Fetal Iodine Syndrome 12 0.031
505
INT165 Intellectual Deficit, X-Linked - Short Stature - Obesity 11 0.031
506
P PRM188 Primary Cutis Verticis Gyrata 11 0.031
507
ALT003 Alternating Exotropia 11 0.031
508
SPR038 Supranuclear Ocular Palsy 11 0.031
509
ALT004 Alternating Esotropia 11 0.031
510
BNG068 Benign Paroxysmal Tonic Upgaze of Childhood with Ataxia 11 0.031
511
OLV003 Olivopontocerebellar Atrophy Deafness 10 0.031
512
CHR171 Choroideremia Hypopituitarism 10 0.031
513
c ACH023 Achromatopsia 4 10 0.031
514
ATX020 Ataxia - Tapetoretinal Degeneration 9 0.031
515
SPS081 Spastic Ataxia with Congenital Miosis 9 0.031
516
TRC082 Trichodermal Syndrome - Intellectual Deficit 9 0.031
517
c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 9 0.031
518
ARC014 Auriculoocular Anomalies - Cleft Lip 8 0.031
519
XLN037 X-Linked Lissencephaly with Ambiguous Genitalia 8 0.031
520
c RTN151 Retinitis Pigmentosa 64 8 0.031
521
BRR001 Barre-Lieou Syndrome 7 0.031
522
c CSK002 Cask-Related Intellectual Disability 6 0.031
523
CHR284 Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids 5 0.031