Search results for "nystagmus"

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

473 hits were found for 'nystagmus'

# Family MCID Name MIFTS Score
1
XLN065 X-Linked Infantile Nystagmus 11 4.695
2
CNG024 Congenital Nystagmus 43 4.584
3
VST003 Vestibular Nystagmus 30 4.326
4
SPN033 Spontaneous Ocular Nystagmus 16 3.991
5
P NYS002 Nystagmus 1, Congenital, X- Linked 19 3.752
6
SPL021 Split Hand Split Foot Nystagmus 20 3.710
7
c CNG161 Congenital Nystagmus 6, X-Linked 16 3.691
8
FRM005 Frmd7-Related Infantile Nystagmus 11 3.681
9
NHS001 Neuhauser Daly Magnelli Syndrome 12 3.659
10
c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 9 3.647
11
NYS007 Nystagmus, Hereditary Vertical 3 3.621
12
DSS005 Dissociated Nystagmus 13 3.315
13
c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 7 3.268
14
P NYS005 Nystagmus 4, Congenital, Autosomal Dominant 7 3.254
15
NYS008 Nystagmus, Myoclonic 2 3.238
16
EPS008 Episodic Ataxia with Nystagmus 15 2.945
17
BNG018 Benign Paroxysmal Positional Nystagmus 33 2.918
18
CHR165 Chorea, Remitting with Nystagmus and Cataracts 3 2.838
19
P BMN001 Biemond Syndrome 22 2.822
20
CTR020 Cataract, Microphthalmia and Nystagmus 2 2.822
21
LWR008 Lowry Wood Syndrome 24 2.344
22
PTH003 Pathologic Nystagmus 8 2.344
23
HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 6 2.344
24
MNT193 Mental Retardation, with or Without Nystagmus 11 2.290
25
NYS015 Nystagmus, Infantile Periodic Alternating, X-Linked 9 2.290
26
c NYS012 Nystagmus 5, Congenital, X-Linked 6 2.290
27
c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 6 2.290
28
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 3 2.290
29
NYS006 Nystagmus, Congenital Motor, Autosomal Recessive 1 2.290
30
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 20 1.619
31
ODN003 O Donnell Pappas Syndrome 12 1.619
32
MNZ002 Manz Syndrome 8 1.619
33
MNT023 Mental Retardation Mietens Weber Type 7 1.619
34
MMN001 Maumenee Syndrome 4 1.619
35
SLN003 Silengo Lerone Pelizza Syndrome 4 1.619
36
SNG001 Singh Chhaparwal Dhanda Syndrome 4 1.619
37
c OPH004 Ophthalmoplegia 53 0.164
38
c ATX004 Ataxia 58 0.161
39
NRN002 Neuronitis 43 0.161
40
ALB002 Albinism 49 0.150
41
INT042 Internuclear Ophthalmoplegia 34 0.150
42
SPS087 Spasmus Nutans 21 0.139
43
P STR020 Strabismus 51 0.131
44
RTN023 Retinitis 53 0.109
45
BLN003 Blindness 52 0.109
46
SYN053 Syndromic Diarrhea 32 0.109
47
VST001 Vestibular Neuronitis 30 0.098
48
MTN003 Motion Sickness 54 0.093
49
ANR002 Aniridia 65 0.087
50
P SPN068 Spinocerebellar Ataxia Type 6 53 0.087
51
OCL001 Ocular Albinism 46 0.087
52
HYP265 Hypotonia 41 0.087
53
c SPN049 Spinocerebellar Ataxia 56 0.080
54
AST006 Astigmatism 42 0.080
55
EST005 Esotropia 40 0.080
56
P ATX002 Ataxia Telangiectasia 86 0.073
57
P LBR001 Leber Congenital Amaurosis 81 0.073
58
SPT014 Septo-Optic Dysplasia 68 0.073
59
P OCL017 Oculocutaneous Albinism Type 1 59 0.073
60
c OCL002 Oculocutaneous Albinism 58 0.073
61
c CTR002 Cataract 57 0.073
62
RFR003 Refractive Error 48 0.073
63
OCL046 Ocular Albinism, Type I, Nettleship-Falls Type 30 0.073
64
FVL002 Foveal Hypoplasia 28 0.073
65
OCL016 Ocular Albinism, X-Linked 21 0.073
66
ANK002 Ankylosing Spondylitis 74 0.066
67
P ANG001 Angelman Syndrome 70 0.066
68
ART019 Aortic Valve Stenosis 64 0.066
69
P CRB042 Cerebellar Ataxia 61 0.066
70
DWN001 Down Syndrome 61 0.066
71
c OCL018 Oculocutaneous Albinism Type 2 54 0.066
72
c ACH003 Achromatopsia 54 0.066
73
THR013 Thoracic Outlet Syndrome 52 0.066
74
MNT147 Mental Retardation 51 0.066
75
c EPS003 Episodic Ataxia 49 0.066
76
P CNG010 Congenital Stationary Night Blindness 49 0.066
77
BLC001 Blue Cone Monochromacy 41 0.066
78
EXT022 Exotropia 39 0.066
79
LTR003 Lateral Medullary Syndrome 28 0.066
80
P PLZ001 Pelizaeus-Merzbacher Disease 77 0.057
81
P BRD002 Bardet-Biedl Syndrome 71 0.057
82
ACN002 Acanthosis Nigricans 69 0.057
83
P MGR002 Migraine 69 0.057
84
c HYP086 Hypothyroidism 69 0.057
85
c ENC004 Encephalitis 65 0.057
86
MNR002 Meniere's Disease 62 0.057
87
c JBR001 Joubert Syndrome 57 0.057
88
P CRV039 Cervicitis 57 0.057
89
SNS001 Sensorineural Hearing Loss 57 0.057
90
ART001 Arterial Tortuosity Syndrome 54 0.057
91
AND003 Andersen-Tawil Syndrome 53 0.057
92
c HMP006 Hemiplegic Migraine 51 0.057
93
MNN014 Mononeuritis 51 0.057
94
P ACH020 Achromatopsia 2 49 0.057
95
c NGH001 Night Blindness 48 0.057
96
NRT004 Neuritis 48 0.057
97
EVN001 Evans' Syndrome 46 0.057
98
P CLR019 Color Blindness 46 0.057
99
P ATX010 Ataxia Neuropathy Spectrum 41 0.057
100
SPL040 Split Hand 40 0.057
101
CRB009 Cerebritis 39 0.057
102
SPL039 Split Foot 38 0.057
103
ADS002 Adie Syndrome 35 0.057
104
c CRB059 Cerebellar Degeneration 33 0.057
105
TFT003 Tufting Enteropathy 28 0.057
106
c XLN012 X-Linked Congenital Stationary Night Blindness 28 0.057
107
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 28 0.057
108
HNM002 Hinman Syndrome 27 0.057
109
c LBR004 Leber Congenital Amaurosis 1 27 0.057
110
VST004 Vestibular Disease 26 0.057
111
c BNG076 Benign Exophthalmos Syndrome 22 0.057
112
VSL005 Visual Pathway Disease 20 0.057
113
c NGH019 Night Blindness, Congenital Stationary , 1a, X-Linked 12 0.057
114
P AMY001 Amyotrophic Lateral Sclerosis 98 0.046
115
HPT023 Hepatocellular Carcinoma 79 0.046
116
P MLT007 Multiple Epiphyseal Dysplasia 73 0.046
117
P FRG001 Fragile X Syndrome 73 0.046
118
P AST007 Astrocytoma 71 0.046
119
P HYD006 Hydrocephalus 68 0.046
120
PTR006 Peters Plus Syndrome 67 0.046
121
P PRG006 Progressive Supranuclear Palsy 64 0.046
122
ARC007 Arachnoid Cysts 61 0.046
123
NRP001 Neuropathy 61 0.046
124
NTR001 Neutral Lipid Storage Disease 59 0.046
125
MYC002 Mycobacterium Avium Complex Disease 58 0.046
126
c FML023 Familial Hemiplegic Migraine 57 0.046
127
HMM003 Hemimegalencephaly 55 0.046
128
CCH002 Coach Syndrome 53 0.046
129
c HRD026 Hereditary Ataxia 53 0.046
130
WBR001 Weber Syndrome 51 0.046
131
c EPS007 Episodic Ataxia Type 2 50 0.046
132
c LBR029 Leber Congenital Amaurosis 17 47 0.046
133
SCH016 Schimke Immunoosseous Dysplasia 46 0.046
134
DYS018 Dysostosis 45 0.046
135
ARC002 Arachnoiditis 45 0.046
136
MYC033 Myoclonus 45 0.046
137
SPN050 Spinocerebellar Degeneration 44 0.046
138
P PRX064 Peroxisome Biogenesis Disorder 2b 44 0.046
139
c CND005 Cone Dystrophy 43 0.046
140
TTR016 Tetra-Amelia Syndrome 41 0.046
141
P NGH017 Night Blindness, Congenital Stationary , 1d, Autosomal Recessive 41 0.046
142
END060 Endolymphatic Hydrops 40 0.046
143
WRN003 Wernicke Encephalopathy 39 0.046
144
DVL002 Developmental Disabilities 39 0.046
145
NNC002 Nance-Horan Syndrome 38 0.046
146
c GRS007 Griscelli Syndrome Type 1 38 0.046
147
P SCH023 Schindler Disease, Type 1 37 0.046
148
LKN007 Leukonychia Totalis 32 0.046
149
c OCL035 Oculocutaneous Albinism Type 1b 32 0.046
150
OCL033 Oculocerebral Syndrome with Hypopigmentation 29 0.046
151
HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 26 0.046
152
PRG075 Progressive Bifocal Chorioretinal Atrophy 25 0.046
153
CRB029 Cerebellopontine Angle Tumor 24 0.046
154
c LBR012 Leber Congenital Amaurosis 2 24 0.046
155
AND005 Androgen Insensitivity Syndrome, Mild 21 0.046
156
c LBR018 Leber Congenital Amaurosis 8 20 0.046
157
c LBR006 Leber Congenital Amaurosis 11 20 0.046
158
c LBR016 Leber Congenital Amaurosis 6 19 0.046
159
OCL011 Ocular Motility Disease 19 0.046
160
c LBR017 Leber Congenital Amaurosis 7 19 0.046
161
BLC014 Blue Cone Monochromatism 17 0.046
162
MTC003 Metachromatic Leukodystrophy 86 0.033
163
P SMT004 Smith-Lemli-Opitz Syndrome 82 0.033
164
P RTN008 Retinitis Pigmentosa 80 0.033
165
VNH001 Von Hippel-Lindau Disease 80 0.033
166
P MYS003 Myasthenia Gravis 78 0.033
167
CHD001 Chediak-Higashi Syndrome 75 0.033
168
NRR002 Norrie Disease 74 0.033
169
P ALX003 Alexander Disease 73 0.033
170
GLN003 Glanzmann's Thrombasthenia 73 0.033
171
P CRD013 Cardiofaciocutaneous Syndrome 72 0.033
172
P RFS001 Refsum Disease 72 0.033
173
P TMP003 Temporal Arteritis 71 0.033
174
P STR022 Stargardt Disease 71 0.033
175
ATS001 Autistic Disorder 71 0.033
176
MLT021 Multiple System Atrophy 70 0.033
177
GLL008 Gilles De La Tourette Syndrome 70 0.033
178
P WLF004 Wolfram Syndrome 69 0.033
179
OCL005 Oculocerebrorenal Syndrome 69 0.033
180
KLP002 Klippel-Trenaunay Syndrome 67 0.033
181
CHR452 Chorea-Acanthocytosis 67 0.033
182
P NNN008 Noonan Syndrome 1 66 0.033
183
ERD001 Erdheim-Chester Disease 66 0.033
184
ALS001 Alstrom Syndrome 66 0.033
185
STT001 Status Epilepticus 65 0.033
186
ADN018 Adenoma 64 0.033
187
CHR103 Charge Syndrome 63 0.033
188
P HMP002 Hemophagocytic Lymphohistiocytosis 63 0.033
189
CRY002 Cryptorchidism 63 0.033
190
PTT006 Pituitary Adenoma 63 0.033
191
ISC004 Ischemia 63 0.033
192
CRN036 Craniopharyngioma 63 0.033
193
KRN002 Kearns-Sayre Syndrome 61 0.033
194
GLD001 Goldenhar Syndrome 61 0.033
195
PSY004 Psychotic Disorder 60 0.033
196
EYD002 Eye Disease 60 0.033
197
RBR001 Roberts Syndrome 60 0.033
198
c GNG009 Gangliosidosis 60 0.033
199
WGR001 Wagr Syndrome 59 0.033
200
ACR008 Acrocallosal Syndrome 59 0.033
201
SPN020 Spondylosis 59 0.033
202
WLF002 Wolf-Hirschhorn Syndrome 59 0.033
203
HRT004 Hartnup Disease 59 0.033
204
CLF001 Cleft Lip 59 0.033
205
CRN017 Coronary Thrombosis 59 0.033
206
P HLL001 Hallermann-Streiff Syndrome 59 0.033
207
P ALT001 Alternating Hemiplegia of Childhood 58 0.033
208
HWK001 Hawkinsinuria 58 0.033
209
P CFF001 Coffin-Siris Syndrome 58 0.033
210
HDC001 Headache 58 0.033
211
c CNG124 Congenital Rubella 57 0.033
212
P FNC044 Fanconi Anemia, Complementation Group C 57 0.033
213
BRN029 Brain Disease 57 0.033
214
P CNG021 Congenital Toxoplasmosis 57 0.033
215
SCN006 Secondary Syphilis 57 0.033
216
P DND001 Dandy-Walker Syndrome 57 0.033
217
ALP008 Alopecia 56 0.033
218
FRB001 Farber Lipogranulomatosis 56 0.033
219
BRJ001 Borjeson-Forssman-Lehmann Syndrome 56 0.033
220
c LSS002 Lissencephaly 56 0.033
221
P JBR004 Joubert Syndrome 2 55 0.033
222
SPN008 Spondyloepiphyseal Dysplasia Congenita 55 0.033
223
c TRM003 Tremor 55 0.033
224
P OCL013 Oculodentodigital Dysplasia 55 0.033
225
CHR008 Choroiditis 55 0.033
226
P NRM001 Neuromyelitis Optica 54 0.033
227
PTT004 Pituitary Apoplexy 54 0.033
228
ASP001 Asperger Syndrome 53 0.033
229
P HRM005 Hermansky-Pudlak Syndrome 1 53 0.033
230
CNR002 Cone-Rod Dystrophy 53 0.033
231
HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 53 0.033
232
HNT002 Hantavirus Pulmonary Syndrome 53 0.033
233
P OTS001 Otosclerosis 53 0.033
234
P FML165 Familial Hemiplegic Migraine Type 1 52 0.033
235
LKD001 Leukodystrophy 52 0.033
236
P MCR013 Microphthalmia 52 0.033
237
BLL001 Baller-Gerold Syndrome 52 0.033
238
P PRP023 Peripheral Neuropathy 52 0.033
239
NRN008 Neuronal Intranuclear Inclusion Disease 52 0.033
240
c TYR003 Tyrosinemia Type Ii 51 0.033
241
c WLM002 Wilms Tumor 51 0.033
242
c FML024 Familial Melanoma 51 0.033
243
P USH004 Usher Syndrome Type 2a 51 0.033
244
APP001 Apparent Mineralocorticoid Excess Syndrome 51 0.033
245
MLK003 Melkersson-Rosenthal Syndrome 50 0.033
246
P BRD043 Bardet-Biedl Syndrome, Modifier of 50 0.033
247
ACR012 Aicardi Syndrome 50 0.033
248
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 50 0.033
249
c SYN001 Syndactyly 50 0.033
250
P INT063 Intellectual Disability 50 0.033
251
CHN016 Cohen Syndrome 50 0.033
252
DBW001 Dubowitz Syndrome 49 0.033
253
P MWT001 Mowat-Wilson Syndrome 49 0.033
254
ATX019 Ataxia with Vitamin E Deficiency 49 0.033
255
c JBR031 Joubert Syndrome 21 49 0.033
256
AMB002 Amblyopia 49 0.033
257
ECT006 Ectodermal Dysplasia 49 0.033
258
RTN018 Retinal Disease 48 0.033
259
1P3001 1p36 Deletion Syndrome 48 0.033
260
P CND011 Cone Dystrophy 3 47 0.033
261
P CRN139 Cornelia De Lange Syndrome 1 47 0.033
262
P OP3001 Opa3-Related 3-Methylglutaconic Aciduria 47 0.033
263
MRS002 Marshall Syndrome 47 0.033
264
FRN002 Frontal Lobe Epilepsy 47 0.033
265
MYK002 Myokymia 46 0.033
266
c USH006 Usher Syndrome, Type 1b 46 0.033
267
KRT002 Keratomalacia 46 0.033
268
PST055 Postural Hypotension 46 0.033
269
P OST051 Osteopetrosis Autosomal Recessive 1 45 0.033
270
DNR001 Duane Retraction Syndrome 45 0.033
271
c MCL013 Mucolipidosis Iv 44 0.033
272
OPT037 Optic Nerve Hypoplasia 44 0.033
273
RNL029 Renal Coloboma Syndrome 43 0.033
274
P RTN016 Retinal Degeneration 43 0.033
275
P SLD005 Sialidosis Type I 43 0.033
276
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 43 0.033
277
OCL014 Oculofaciocardiodental Syndrome 43 0.033
278
OBS004 Obstructive Hydrocephalus 43 0.033
279
INC001 Incontinentia Pigmenti Achromians 43 0.033
280
LSS007 Lissencephaly X-Linked 42 0.033
281
PCH002 Pachygyria 42 0.033
282
c CHR104 Chorea 42 0.033
283
P GM1003 Gm1 Gangliosidosis Type 3 42 0.033
284
c CHR342 Chiari Malformation 41 0.033
285
CGN002 Cogan's Syndrome 41 0.033
286
GPS001 Gapo Syndrome 41 0.033
287
P CRN108 Cranioectodermal Dysplasia 1 41 0.033
288
c CTR098 Cataract 1, Multiple Types 41 0.033
289
P SPL033 Split-Hand/foot Malformation 6 41 0.033
290
P CHR269 Chromosome 9p Deletion 40 0.033
291
c JBR024 Joubert Syndrome 14 40 0.033
292
PRS055 Pierson Syndrome 40 0.033
293
c MYP006 Myopia 40 0.033
294
SCT002 Scotoma 40 0.033
295
MJD001 Majeed Syndrome 40 0.033
296
PRP028 Peripheral Vertigo 40 0.033
297
DNR002 Duane-Radial Ray Syndrome 39 0.033
298
P DNS004 Duane Syndrome Type 2 39 0.033
299
P BRN035 Brain Stem Glioma 39 0.033
300
JBR007 Joubert Syndrome with Renal Anomalies 39 0.033
301
PRX035 Paroxysmal Dyskinesia 39 0.033
302
CHR174 Christianson Syndrome 38 0.033
303
c JVN024 Juvenile Hereditary Hemochromatosis 38 0.033
304
MLL002 Miller Fisher Syndrome 38 0.033
305
SPS057 Spasticity 37 0.033
306
c OCL019 Oculocutaneous Albinism Type 4 37 0.033
307
ALN001 Aland Island Eye Disease 37 0.033
308
LGH003 Leigh Syndrome, French Canadian Type 37 0.033
309
CLB003 Coloboma of Optic Nerve 36 0.033
310
P PRR020 Perrault Syndrome 1 36 0.033
311
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 36 0.033
312
P KBK002 Kabuki Syndrome 1 36 0.033
313
c JBR030 Joubert Syndrome 22 35 0.033
314
c CNG011 Congenital Disorder of Glycosylation Type Ii 35 0.033
315
c SPL037 Split Hand Foot Malformation 35 0.033
316
VCS001 Vici Syndrome 34 0.033
317
CRT012 Cortical Blindness 34 0.033
318
P MRN007 Marinesco-Sjögren Syndrome 34 0.033
319
SHK001 Shaken Baby Syndrome 34 0.033
320
ABL001 Ablepharon Macrostomia Syndrome 34 0.033
321
16Q001 16q24.3 Microdeletion Syndrome 34 0.033
322
LKM059 Leukemia, Megakaryoblastic, with or Without Down Syndrome, Somatic 34 0.033
323
INF047 Infantile Free Sialic Acid Storage Disease 33 0.033
324
c GLC030 Glaucoma, Congenital 33 0.033
325
KFM001 Kaufman Oculocerebrofacial Syndrome 33 0.033
326
RHY001 Rhyns Syndrome 33 0.033
327
OCL034 Oculocerebrocutaneous Syndrome 32 0.033
328
HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 32 0.033
329
BRK004 Barakat Syndrome 32 0.033
330
XLN107 X-Linked Lissencephaly with Abnormal Genitalia 32 0.033
331
48X003 48,xxyy Syndrome 32 0.033
332
YNS001 Yunis Varon Syndrome 32 0.033
333
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 32 0.033
334
c ACH021 Achromatopsia 3 31 0.033
335
c OCL036 Oculocutaneous Albinism Type 3 31 0.033
336
P INF069 Infantile Neuroaxonal Dystrophy 1 31 0.033
337
c SPN074 Spinocerebellar Ataxia Type 13 31 0.033
338
DSM002 Desmosterolosis 31 0.033
339
CTR004 Cataract and Cardiomyopathy 31 0.033
340
PRD015 Proud Levine Carpenter Syndrome 30 0.033
341
P KNB003 Knobloch Syndrome Type I 30 0.033
342
P CMM008 Communicating Hydrocephalus 30 0.033
343
c ATS004 Autosomal Dominant Microcephaly 30 0.033
344
c SPN070 Spinocerebellar Ataxia Type 8 29 0.033
345
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 29 0.033
346
DNC004 Diencephalic Syndrome 29 0.033
347
P LNZ001 Lenz Microphthalmia Syndrome 29 0.033
348
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 28 0.033
349
ADT003 Auditory System Disease 28 0.033
350
BSL004 Basilar Artery Occlusion 28 0.033
351
P ORF012 Orofaciodigital Syndrome 8 28 0.033
352
CRB027 Cerebellar Disease 28 0.033
353
P BLP012 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 27 0.033
354
CRB055 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 27 0.033
355
PSL001 Pasli Disease 27 0.033
356
OLG014 Oligocone Trichromacy 27 0.033
357
DYS045 Dysosteosclerosis 26 0.033
358
15Q002 15q24 Microdeletion Syndrome 26 0.033
359
CNR008 Cone-Rod Dystrophy Amelogenesis Imperfecta 26 0.033
360
HRD052 Hereditary Mucoepithelial Dysplasia 26 0.033
361
LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 26 0.033
362
P MCR083 Microphthalmia Syndromic 6 26 0.033
363
CNG049 Congenital Stromal Corneal Dystrophy 26 0.033
364
P HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 26 0.033
365
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 26 0.033
366
P SPS133 Spastic Paraplegia 2, X-Linked 26 0.033
367
SYN016 Syndactyly Cenani Lenz Type 26 0.033
368
CRB026 Cerebellar Astrocytoma 25 0.033
369
ALB005 Albinism Ocular Late Onset Sensorineural Deafness 25 0.033
370
JVN017 Juvenile Macular Degeneration and Hypotrichosis 25 0.033
371
MMS001 Momo Syndrome 25 0.033
372
GRL002 Gorlin Chaudhry Moss Syndrome 25 0.033
373
c SPN104 Spinocerebellar Ataxia 34 24 0.033
374
GRS010 Gerstmann-Straussler-Scheinker Syndrome 24 0.033
375
RCH002 Richards-Rundle Syndrome 24 0.033
376
BHR001 Behr Syndrome 24 0.033
377
BRN036 Brain Stem Infarction 24 0.033
378
PCW002 Pcwh Syndrome 24 0.033
379
MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 23 0.033
380
BLP030 Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type 23 0.033
381
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 23 0.033
382
MNR008 Menieres Disease 23 0.033
383
LMB011 Limb Deficiencies Distal with Micrognathia 23 0.033
384
CRN142 Corneal Endothelial Dystrophy and Perceptive Deafness 23 0.033
385
AGN008 Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia 23 0.033
386
CRL001 Cerulean Cataract 23 0.033
387
HSH001 Hashimoto-Pritzker Syndrome 22 0.033
388
c NRM008 Neuromyelitis Optica Spectrum Disorder 22 0.033
389
MCR163 Microphthalmia with Linear Skin Defects Syndrome 22 0.033
390
HYP299 Hyperostosis, Endosteal 22 0.033
391
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 22 0.033
392
NRC016 Neuroectodermal Melanolysosomal Disease 22 0.033
393
CRN083 Craniofacial Dyssynostosis 22 0.033
394
P HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 21 0.033
395
c FRN033 Frontonasal Dysplasia 2 21 0.033
396
c PRM041 Primary Cortisol Resistance 21 0.033
397
RDG001 Red-Green Color Blindness 20 0.033
398
CDS002 Codas Syndrome 20 0.033
399
c SPN177 Spinocerebellar Ataxia, Autosomal Recessive, 10 20 0.033
400
ALB018 Albinism, Oculocutaneous, Type Ii, Modifier of 19 0.033
401
SPN244 Spondylo-Ocular Syndrome 19 0.033
402
TRC080 Trichomegaly - Retina Pigmentary Degeneration - Dwarfism 19 0.033
403
MCR224 Microcephaly and Chorioretinopathy with or Without Mental Retardation 19 0.033
404
CRB064 Cerebelloparenchymal Disorder 3 19 0.033
405
P PRM188 Primary Cutis Verticis Gyrata 19 0.033
406
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 18 0.033
407
MGL027 Megalocornea-Intellectual Disability Syndrome 18 0.033
408
SPN257 Spinocerebellar Ataxia 29, Congenital Nonprogressive 18 0.033
409
c ALB017 Albinism, Oculocutaneous, Type Vi 18 0.033
410
ERM001 Ermine Phenotype 17 0.033
411
NNR005 Non-Rhizomelic Chondrodysplasia Punctata 17 0.033
412
HYP213 Hypomelanotic Disorder 17 0.033
413
P 19P001 19p13.12 Microdeletion Syndrome 17 0.033
414
c DST045 Distal Trisomy 6p 17 0.033
415
MYL017 Myelocerebellar Disorder 17 0.033
416
8P1001 8p11.2 Deletion Syndrome 16 0.033
417
ACC002 Accommodative Spasm 16 0.033
418
MTN005 Mietens Syndrome 16 0.033
419
RTN167 Retinitis Pigmentosa - Intellectual Disability - Deafness - Hypogenitalism 16 0.033
420
6Q1001 6q16 Deletion Syndrome 16 0.033
421
c XLN105 X-Linked Spastic Paraplegia Type 16 16 0.033
422
CTR007 Cataract Ataxia Deafness 16 0.033
423
OTP003 Oto-Palatal-Digital Syndrome 16 0.033
424
APL011 Aplasia Cutis Myopia 15 0.033
425
SPN113 Spinocerebellar Ataxia with Dysmorphism 15 0.033
426
XLN077 X-Linked Immunoneurologic Disorder 15 0.033
427
CDL001 Caudal Appendage Deafness 15 0.033
428
OCL032 Oculocerebral Hypopigmentation Syndrome Type Preus 15 0.033
429
SBR006 Subaortic Stenosis Short Stature Syndrome 15 0.033
430
P INF044 Infantile Axonal Neuropathy 15 0.033
431
c LKD010 Leukodystrophy, Hypomyelinating, 2 15 0.033
432
OCL056 Oculoosteocutaneous Syndrome 15 0.033
433
HPT076 Hepatic Fibrosis - Renal Cysts - Intellectual Disability 15 0.033
434
c ACH023 Achromatopsia 4 15 0.033
435
NSP011 Nasopalpebral Lipoma - Coloboma - Telecanthus 15 0.033
436
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 14 0.033
437
CTR091 Cataract - Nephropathy - Encephalopathy 14 0.033
438
WLL007 Wells-Jankovic Syndrome 14 0.033
439
NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 14 0.033
440
VND003 Van Den Bosch Syndrome 14 0.033
441
CRB061 Cerebellar Hypoplasia Tapetoretinal Degeneration 14 0.033
442
c RTN151 Retinitis Pigmentosa 64 14 0.033
443
FCL035 Facial Dysmorphism - Macrocephaly - Myopia - Dandy-Walker Malformation 14 0.033
444
CRB129 Cerebro-Reno-Digital Syndrome 14 0.033
445
SHR076 Short Stature - Intellectual Disability - Eye Anomalies - Cleft Lip/palate 14 0.033
446
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 14 0.033
447
XLN125 X-Linked Intellectual Disability - Dysmorphism - Cerebral Atrophy 13 0.033
448
CTR138 Cataract - Intellectual Disability - Anal Atresia - Urinary Defects 13 0.033
449
FVL005 Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 13 0.033
450
CHR171 Choroideremia Hypopituitarism 13 0.033
451
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 13 0.033
452
ATX028 Ataxia-Deafness-Intellectual Disability Syndrome 13 0.033
453
RTN038 Retinal Dysplasia X-Linked 13 0.033
454
PRP081 Paraplegia - Intellectual Disability - Hyperkeratosis 13 0.033
455
AMR005 Amaurosis - Hypertrichosis 13 0.033
456
SPR038 Supranuclear Ocular Palsy 12 0.033
457
PLL010 Pellagra-Like Skin Rash - Neurological Manifestations 12 0.033
458
LRY043 Laryngeal Abductor Paralysis - Intellectual Disability 12 0.033
459
DPH008 Diphenylhydantoin Toxicity 12 0.033
460
DNN006 Duane Anomaly - Myopathy - Scoliosis 11 0.033
461
FTL019 Fetal Iodine Syndrome 11 0.033
462
XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 11 0.033
463
P SYN028 Syngnathia Multiple Anomalies 11 0.033
464
INT236 Intellectual Disability - Unusual Facies 11 0.033
465
BNG068 Benign Paroxysmal Tonic Upgaze of Childhood with Ataxia 11 0.033
466
OLV003 Olivopontocerebellar Atrophy Deafness 10 0.033
467
c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 10 0.033
468
ATX020 Ataxia - Tapetoretinal Degeneration 10 0.033
469
SPS081 Spastic Ataxia with Congenital Miosis 10 0.033
470
ARC014 Auriculoocular Anomalies - Cleft Lip 9 0.033
471
TRC089 Trichodermal Syndrome - Intellectual Disability 8 0.033
472
BRR001 Barre-Lieou Syndrome 7 0.033
473
CHR284 Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids 5 0.033