Search results for "nystagmus"

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

490 hits were found for 'nystagmus'

# Family MCID Name MIFTS Score
1
CNG024 Congenital Nystagmus 43 4.573
2
XLN065 X-Linked Infantile Nystagmus 13 4.433
3
VST003 Vestibular Nystagmus 30 4.313
4
SPN033 Spontaneous Ocular Nystagmus 16 3.994
5
NYS007 Nystagmus, Hereditary Vertical 3 3.969
6
EPS008 Episodic Ataxia with Nystagmus 15 3.746
7
SPL021 Split Hand Split Foot Nystagmus 21 3.712
8
FRM005 Frmd7-Related Infantile Nystagmus 11 3.683
9
NHS001 Neuhauser Daly Magnelli Syndrome 12 3.662
10
c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 9 3.650
11
P NYS002 Nystagmus 1, Congenital, X- Linked 20 3.378
12
BNG018 Benign Paroxysmal Positional Nystagmus 33 3.345
13
c CNG161 Congenital Nystagmus 6, X-Linked 16 3.316
14
DSS005 Dissociated Nystagmus 13 3.316
15
c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 7 3.270
16
P NYS005 Nystagmus 4, Congenital, Autosomal Dominant 7 3.256
17
NYS008 Nystagmus, Myoclonic 2 3.241
18
PTH003 Pathologic Nystagmus 9 2.853
19
CHR165 Chorea, Remitting with Nystagmus and Cataracts 3 2.839
20
P BMN001 Biemond Syndrome 22 2.824
21
CTR020 Cataract, Microphthalmia and Nystagmus 2 2.824
22
LWR008 Lowry Wood Syndrome 25 2.345
23
HYP234 Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 6 2.345
24
MNT193 Mental Retardation, with or Without Nystagmus 11 2.292
25
NYS015 Nystagmus, Infantile Periodic Alternating, X-Linked 10 2.292
26
c NYS012 Nystagmus 5, Congenital, X-Linked 6 2.292
27
c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 6 2.292
28
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 2 2.292
29
NYS006 Nystagmus, Congenital Motor, Autosomal Recessive 1 2.292
30
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 20 1.620
31
ODN003 O Donnell Pappas Syndrome 13 1.620
32
MNZ002 Manz Syndrome 8 1.620
33
MNT023 Mental Retardation Mietens Weber Type 7 1.620
34
MMN001 Maumenee Syndrome 4 1.620
35
SLN003 Silengo Lerone Pelizza Syndrome 4 1.620
36
SNG001 Singh Chhaparwal Dhanda Syndrome 4 1.620
37
c OPH004 Ophthalmoplegia 53 0.168
38
c ATX004 Ataxia 59 0.165
39
NRN002 Neuronitis 44 0.155
40
INT042 Internuclear Ophthalmoplegia 34 0.155
41
ALB002 Albinism 49 0.148
42
SPS087 Spasmus Nutans 21 0.137
43
P STR020 Strabismus 52 0.129
44
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 42 0.117
45
RTN023 Retinitis 54 0.107
46
BLN003 Blindness 53 0.107
47
SYN053 Syndromic Diarrhea 34 0.107
48
MTN003 Motion Sickness 55 0.092
49
P SPN068 Spinocerebellar Ataxia Type 6 54 0.092
50
VST001 Vestibular Neuronitis 30 0.092
51
P PLZ001 Pelizaeus-Merzbacher Disease 78 0.086
52
ANR002 Aniridia 62 0.086
53
OCL001 Ocular Albinism 48 0.086
54
EST005 Esotropia 43 0.086
55
HYP265 Hypotonia 41 0.086
56
P ATX002 Ataxia Telangiectasia 87 0.079
57
P CRB042 Cerebellar Ataxia 62 0.079
58
c SPN049 Spinocerebellar Ataxia 56 0.079
59
AST006 Astigmatism 42 0.079
60
P BRD002 Bardet-Biedl Syndrome 73 0.072
61
P ANG001 Angelman Syndrome 70 0.072
62
SPT014 Septo-Optic Dysplasia 69 0.072
63
P OCL017 Oculocutaneous Albinism Type 1 59 0.072
64
c CTR002 Cataract 57 0.072
65
c OCL002 Oculocutaneous Albinism 56 0.072
66
THR013 Thoracic Outlet Syndrome 52 0.072
67
RFR003 Refractive Error 48 0.072
68
OCL046 Ocular Albinism, Type I, Nettleship-Falls Type 30 0.072
69
OCL016 Ocular Albinism, X-Linked 24 0.072
70
ANK002 Ankylosing Spondylitis 77 0.065
71
ART019 Aortic Valve Stenosis 64 0.065
72
ACN002 Acanthosis Nigricans 63 0.065
73
DWN001 Down Syndrome 62 0.065
74
c ACH003 Achromatopsia 55 0.065
75
ART001 Arterial Tortuosity Syndrome 55 0.065
76
c OCL018 Oculocutaneous Albinism Type 2 54 0.065
77
AND003 Andersen-Tawil Syndrome 54 0.065
78
MNT147 Mental Retardation 52 0.065
79
c EPS003 Episodic Ataxia 51 0.065
80
BLC001 Blue Cone Monochromacy 51 0.065
81
P CNG010 Congenital Stationary Night Blindness 43 0.065
82
P ATX010 Ataxia Neuropathy Spectrum 43 0.065
83
EXT022 Exotropia 40 0.065
84
c XLN012 X-Linked Congenital Stationary Night Blindness 29 0.065
85
LTR003 Lateral Medullary Syndrome 28 0.065
86
P RTN008 Retinitis Pigmentosa 86 0.056
87
SMT004 Smith-Lemli-Opitz Syndrome 84 0.056
88
OLV001 Olivopontocerebellar Atrophy 80 0.056
89
P AST007 Astrocytoma 74 0.056
90
P MGR002 Migraine 70 0.056
91
c HYP086 Hypothyroidism 69 0.056
92
P LBR001 Leber Congenital Amaurosis 68 0.056
93
c JBR001 Joubert Syndrome 66 0.056
94
c ENC004 Encephalitis 66 0.056
95
MNR002 Meniere's Disease 63 0.056
96
MYC002 Mycobacterium Avium Complex Disease 59 0.056
97
P CRV039 Cervicitis 58 0.056
98
SNS001 Sensorineural Hearing Loss 57 0.056
99
MNN014 Mononeuritis 51 0.056
100
c HMP006 Hemiplegic Migraine 51 0.056
101
P ACH020 Achromatopsia 2 49 0.056
102
NRT004 Neuritis 49 0.056
103
c NGH001 Night Blindness 49 0.056
104
EVN001 Evans' Syndrome 46 0.056
105
P CLR019 Color Blindness 46 0.056
106
SPL040 Split Hand 40 0.056
107
CRB009 Cerebritis 39 0.056
108
SPL039 Split Foot 38 0.056
109
ADS002 Adie Syndrome 35 0.056
110
c CRB059 Cerebellar Degeneration 35 0.056
111
c ATS004 Autosomal Dominant Microcephaly 30 0.056
112
c LBR004 Leber Congenital Amaurosis 1 29 0.056
113
HNM002 Hinman Syndrome 28 0.056
114
VST004 Vestibular Disease 25 0.056
115
c BNG076 Benign Exophthalmos Syndrome 22 0.056
116
AND005 Androgen Insensitivity Syndrome, Mild 21 0.056
117
VSL005 Visual Pathway Disease 21 0.056
118
c NGH019 Night Blindness, Congenital Stationary , 1a, X-Linked 12 0.056
119
P LVR011 Liver Cancer 91 0.046
120
VNH001 Von Hippel-Lindau Disease 81 0.046
121
P FRG001 Fragile X Syndrome 76 0.046
122
P MLT007 Multiple Epiphyseal Dysplasia 73 0.046
123
MLT021 Multiple System Atrophy 71 0.046
124
OCL005 Oculocerebrorenal Syndrome 70 0.046
125
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 0.046
126
P HYD006 Hydrocephalus 68 0.046
127
PTR006 Peters Plus Syndrome 68 0.046
128
c AMY001 Amyotrophic Lateral Sclerosis 67 0.046
129
P MCH002 Machado-Joseph Disease 66 0.046
130
P OST001 Osteopetrosis 66 0.046
131
P PRG006 Progressive Supranuclear Palsy 65 0.046
132
ARC007 Arachnoid Cysts 62 0.046
133
NRP001 Neuropathy 62 0.046
134
c AMY077 Amyotrophic Lateral Sclerosis Type 18 60 0.046
135
WGR001 Wagr Syndrome 60 0.046
136
c FML023 Familial Hemiplegic Migraine 59 0.046
137
P CFF001 Coffin-Siris Syndrome 59 0.046
138
CNR002 Cone-Rod Dystrophy 58 0.046
139
HDC001 Headache 58 0.046
140
P OP3001 Opa3-Related 3-Methylglutaconic Aciduria 56 0.046
141
P AMY074 Amyotrophic Lateral Sclerosis Type 14 56 0.046
142
SPN008 Spondyloepiphyseal Dysplasia Congenita 56 0.046
143
HMM003 Hemimegalencephaly 55 0.046
144
NTR001 Neutral Lipid Storage Disease 55 0.046
145
c LBR005 Leber Congenital Amaurosis 10 54 0.046
146
c HRD026 Hereditary Ataxia 53 0.046
147
CCH002 Coach Syndrome 53 0.046
148
P OTS001 Otosclerosis 53 0.046
149
WBR001 Weber Syndrome 51 0.046
150
PLR009 Pol Iii-Related Leukodystrophies 51 0.046
151
MLK003 Melkersson-Rosenthal Syndrome 51 0.046
152
DBW001 Dubowitz Syndrome 50 0.046
153
c EPS007 Episodic Ataxia Type 2 49 0.046
154
c GRS007 Griscelli Syndrome Type 1 48 0.046
155
SCH016 Schimke Immunoosseous Dysplasia 47 0.046
156
SPN050 Spinocerebellar Degeneration 46 0.046
157
DYS018 Dysostosis 46 0.046
158
MYC033 Myoclonus 45 0.046
159
ARC002 Arachnoiditis 44 0.046
160
TTR016 Tetra-Amelia Syndrome 42 0.046
161
CND005 Cone Dystrophy 41 0.046
162
c MYP006 Myopia 41 0.046
163
WRN003 Wernicke Encephalopathy 41 0.046
164
END060 Endolymphatic Hydrops 41 0.046
165
HMC023 Homocystinuria-Megaloblastic Anemia, Cbl E Type 39 0.046
166
DVL002 Developmental Disabilities 39 0.046
167
NNC002 Nance-Horan Syndrome 39 0.046
168
P SCH023 Schindler Disease, Type 1 37 0.046
169
LKN007 Leukonychia Totalis 33 0.046
170
c OCL035 Oculocutaneous Albinism Type 1b 32 0.046
171
OCL033 Oculocerebral Syndrome with Hypopigmentation 29 0.046
172
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 29 0.046
173
TFT003 Tufting Enteropathy 28 0.046
174
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 28 0.046
175
CNG049 Congenital Stromal Corneal Dystrophy 27 0.046
176
CRB026 Cerebellar Astrocytoma 26 0.046
177
PRG075 Progressive Bifocal Chorioretinal Atrophy 25 0.046
178
CRB029 Cerebellopontine Angle Tumor 25 0.046
179
c LBR012 Leber Congenital Amaurosis 2 24 0.046
180
BLC014 Blue Cone Monochromatism 21 0.046
181
c LBR018 Leber Congenital Amaurosis 8 20 0.046
182
c LBR006 Leber Congenital Amaurosis 11 20 0.046
183
OCL011 Ocular Motility Disease 20 0.046
184
c LBR016 Leber Congenital Amaurosis 6 19 0.046
185
c LBR017 Leber Congenital Amaurosis 7 19 0.046
186
FVL006 Foveal Hypoplasia 1 18 0.046
187
P MYS003 Myasthenia Gravis 78 0.032
188
P RFS001 Refsum Disease 77 0.032
189
P ALX003 Alexander Disease 76 0.032
190
CHD001 Chediak-Higashi Syndrome 76 0.032
191
NRR002 Norrie Disease 74 0.032
192
GLN003 Glanzmann's Thrombasthenia 74 0.032
193
P TMP003 Temporal Arteritis 72 0.032
194
ATS001 Autistic Disorder 71 0.032
195
GLL008 Gilles De La Tourette Syndrome 71 0.032
196
P STR022 Stargardt Disease 71 0.032
197
P WLF004 Wolfram Syndrome 70 0.032
198
KLP002 Klippel-Trenaunay Syndrome 69 0.032
199
P NNN008 Noonan Syndrome 1 68 0.032
200
ERD001 Erdheim-Chester Disease 67 0.032
201
CHR452 Chorea-Acanthocytosis 67 0.032
202
ALS001 Alstrom Syndrome 66 0.032
203
STT001 Status Epilepticus 66 0.032
204
P WLM002 Wilms Tumor 66 0.032
205
ADN018 Adenoma 66 0.032
206
CHR103 Charge Syndrome 65 0.032
207
SND001 Sandhoff Disease 65 0.032
208
P DYS007 Dyskeratosis Congenita 64 0.032
209
ISC004 Ischemia 63 0.032
210
CRY002 Cryptorchidism 63 0.032
211
CRN036 Craniopharyngioma 63 0.032
212
KRN002 Kearns-Sayre Syndrome 63 0.032
213
RBR001 Roberts Syndrome 62 0.032
214
PTT006 Pituitary Adenoma 62 0.032
215
GLD001 Goldenhar Syndrome 62 0.032
216
WLF002 Wolf-Hirschhorn Syndrome 61 0.032
217
PSY004 Psychotic Disorder 61 0.032
218
c GNG009 Gangliosidosis 60 0.032
219
c HMP002 Hemophagocytic Lymphohistiocytosis 60 0.032
220
HRT004 Hartnup Disease 60 0.032
221
SPN020 Spondylosis 60 0.032
222
ACR008 Acrocallosal Syndrome 60 0.032
223
CLF001 Cleft Lip 60 0.032
224
P ALT001 Alternating Hemiplegia of Childhood 60 0.032
225
HWK001 Hawkinsinuria 59 0.032
226
EYD002 Eye Disease 59 0.032
227
P HLL001 Hallermann-Streiff Syndrome 59 0.032
228
P NRM001 Neuromyelitis Optica 59 0.032
229
SRT004 Serotonin Syndrome 58 0.032
230
P HRM005 Hermansky-Pudlak Syndrome 1 58 0.032
231
FRB001 Farber Lipogranulomatosis 58 0.032
232
c CNG124 Congenital Rubella 58 0.032
233
FCL009 Focal Dermal Hypoplasia 58 0.032
234
BRN029 Brain Disease 58 0.032
235
P DND001 Dandy-Walker Syndrome 58 0.032
236
SCN006 Secondary Syphilis 57 0.032
237
P CNG021 Congenital Toxoplasmosis 57 0.032
238
ALP008 Alopecia 57 0.032
239
c BRD014 Bardet-Biedl Syndrome 2 57 0.032
240
BRJ001 Borjeson-Forssman-Lehmann Syndrome 57 0.032
241
P JBR004 Joubert Syndrome 2 56 0.032
242
CRN005 Craniofrontonasal Syndrome 56 0.032
243
P SPR013 Spiradenoma 56 0.032
244
P OCL013 Oculodentodigital Dysplasia 56 0.032
245
c TRM003 Tremor 56 0.032
246
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.032
247
c HRM001 Hermansky-Pudlak Syndrome 55 0.032
248
INC001 Incontinentia Pigmenti Achromians 55 0.032
249
P FNC025 Fanconi Anemia, Complementation Group J 55 0.032
250
ASP001 Asperger Syndrome 55 0.032
251
CHR008 Choroiditis 54 0.032
252
HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 54 0.032
253
PTT004 Pituitary Apoplexy 54 0.032
254
MCR013 Microphthalmia 54 0.032
255
BLL001 Baller-Gerold Syndrome 53 0.032
256
HNT002 Hantavirus Pulmonary Syndrome 53 0.032
257
P FML165 Familial Hemiplegic Migraine Type 1 53 0.032
258
c USH012 Usher Syndrome, Type 2c 53 0.032
259
c TYR003 Tyrosinemia Type Ii 53 0.032
260
P PRP023 Peripheral Neuropathy 52 0.032
261
NRN008 Neuronal Intranuclear Inclusion Disease 52 0.032
262
c CRD167 Cardiofaciocutaneous Syndrome 4 52 0.032
263
c FML024 Familial Melanoma 52 0.032
264
P USH004 Usher Syndrome Type 2a 52 0.032
265
RHY001 Rhyns Syndrome 51 0.032
266
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 51 0.032
267
APP001 Apparent Mineralocorticoid Excess Syndrome 51 0.032
268
LKD001 Leukodystrophy 51 0.032
269
ACR012 Aicardi Syndrome 51 0.032
270
c SYN001 Syndactyly 51 0.032
271
CHN016 Cohen Syndrome 50 0.032
272
P MWT001 Mowat-Wilson Syndrome 50 0.032
273
ATX019 Ataxia with Vitamin E Deficiency 50 0.032
274
ECT006 Ectodermal Dysplasia 49 0.032
275
NRX001 Neuroaxonal Dystrophy 49 0.032
276
RTN018 Retinal Disease 49 0.032
277
1P3001 1p36 Deletion Syndrome 49 0.032
278
c JBR013 Joubert Syndrome 8 48 0.032
279
KRT002 Keratomalacia 48 0.032
280
P CRN139 Cornelia De Lange Syndrome 1 48 0.032
281
c CNG011 Congenital Disorder of Glycosylation Type Ii 48 0.032
282
AMB002 Amblyopia 47 0.032
283
MRS002 Marshall Syndrome 47 0.032
284
FRN002 Frontal Lobe Epilepsy 47 0.032
285
MYK002 Myokymia 46 0.032
286
c MCL013 Mucolipidosis Iv 46 0.032
287
PST055 Postural Hypotension 46 0.032
288
DNR001 Duane Retraction Syndrome 45 0.032
289
JBR005 Joubert Syndrome with Ocular Anomalies 45 0.032
290
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 45 0.032
291
c JVN024 Juvenile Hereditary Hemochromatosis 45 0.032
292
c CTR098 Cataract 1, Multiple Types 44 0.032
293
P CNG165 Congenital Stationary Night Blindness, Autosomal Dominant 2 44 0.032
294
OCL014 Oculofaciocardiodental Syndrome 44 0.032
295
OPT037 Optic Nerve Hypoplasia 44 0.032
296
CRT012 Cortical Blindness 44 0.032
297
ARS002 Arsacs 44 0.032
298
P RTN016 Retinal Degeneration 44 0.032
299
c CHR342 Chiari Malformation 44 0.032
300
RNL029 Renal Coloboma Syndrome 43 0.032
301
P GM1001 Gm1 Gangliosidosis Type 1 43 0.032
302
OBS004 Obstructive Hydrocephalus 43 0.032
303
P SLD005 Sialidosis Type I 43 0.032
304
PCH002 Pachygyria 42 0.032
305
c CHR104 Chorea 42 0.032
306
P OST052 Osteopetrosis Autosomal Recessive 2 42 0.032
307
GPS001 Gapo Syndrome 42 0.032
308
c PRX056 Peroxisome Biogenesis Disorder 11b 42 0.032
309
P PRX064 Peroxisome Biogenesis Disorder 2b 41 0.032
310
P BRN035 Brain Stem Glioma 41 0.032
311
P SPL033 Split-Hand/foot Malformation 6 41 0.032
312
P CRN108 Cranioectodermal Dysplasia 1 41 0.032
313
PRP028 Peripheral Vertigo 41 0.032
314
MJD001 Majeed Syndrome 41 0.032
315
P CHR269 Chromosome 9p Deletion 41 0.032
316
PRS055 Pierson Syndrome 40 0.032
317
SCT002 Scotoma 40 0.032
318
MTC067 Metachromatic Leukodystrophy Due to Sap-B Deficiency 39 0.032
319
CHR174 Christianson Syndrome 39 0.032
320
P DNS004 Duane Syndrome Type 2 39 0.032
321
P ORF011 Orofaciodigital Syndrome 6 39 0.032
322
DNR002 Duane-Radial Ray Syndrome 39 0.032
323
MLL002 Miller Fisher Syndrome 38 0.032
324
JBR007 Joubert Syndrome with Renal Anomalies 38 0.032
325
c OCL019 Oculocutaneous Albinism Type 4 38 0.032
326
ALN001 Aland Island Eye Disease 38 0.032
327
SPS057 Spasticity 38 0.032
328
P BRD031 Bardet-Biedl Syndrome 1, Modifier of 37 0.032
329
CLB003 Coloboma of Optic Nerve 37 0.032
330
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 36 0.032
331
VCS001 Vici Syndrome 36 0.032
332
P KBK002 Kabuki Syndrome 1 36 0.032
333
PCW002 Pcwh Syndrome 35 0.032
334
c SPL037 Split Hand Foot Malformation 35 0.032
335
P PRR021 Perrault Syndrome 4 35 0.032
336
IMM088 Immunodeficiency 36 34 0.032
337
CGN006 Cogan Syndrome 34 0.032
338
ABL001 Ablepharon Macrostomia Syndrome 34 0.032
339
HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 34 0.032
340
SHK001 Shaken Baby Syndrome 34 0.032
341
P MRN007 Marinesco-Sjögren Syndrome 34 0.032
342
INF047 Infantile Free Sialic Acid Storage Disease 33 0.032
343
KFM001 Kaufman Oculocerebrofacial Syndrome 33 0.032
344
BRK004 Barakat Syndrome 33 0.032
345
CTR004 Cataract and Cardiomyopathy 33 0.032
346
48X003 48,xxyy Syndrome 33 0.032
347
OCL034 Oculocerebrocutaneous Syndrome 32 0.032
348
DSM002 Desmosterolosis 32 0.032
349
YNS001 Yunis Varon Syndrome 32 0.032
350
c OCL036 Oculocutaneous Albinism Type 3 31 0.032
351
P INF069 Infantile Neuroaxonal Dystrophy 1 31 0.032
352
P LNZ001 Lenz Microphthalmia Syndrome 31 0.032
353
c SPN074 Spinocerebellar Ataxia Type 13 31 0.032
354
CRB027 Cerebellar Disease 31 0.032
355
P GLC030 Glaucoma, Congenital 31 0.032
356
c ACH021 Achromatopsia 3 31 0.032
357
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 31 0.032
358
ADT003 Auditory System Disease 30 0.032
359
P KNB003 Knobloch Syndrome Type I 30 0.032
360
P CMM008 Communicating Hydrocephalus 30 0.032
361
PRD015 Proud Levine Carpenter Syndrome 30 0.032
362
CRB055 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 30 0.032
363
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 30 0.032
364
c SPN070 Spinocerebellar Ataxia Type 8 30 0.032
365
HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 29 0.032
366
DNC004 Diencephalic Syndrome 29 0.032
367
BSL004 Basilar Artery Occlusion 29 0.032
368
c ORF012 Orofaciodigital Syndrome 8 28 0.032
369
P BLP012 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 28 0.032
370
BHR001 Behr Syndrome 28 0.032
371
DYS045 Dysosteosclerosis 27 0.032
372
c SPN104 Spinocerebellar Ataxia 34 27 0.032
373
OLG014 Oligocone Trichromacy 27 0.032
374
15Q002 15q24 Microdeletion Syndrome 27 0.032
375
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 27 0.032
376
CNR008 Cone-Rod Dystrophy Amelogenesis Imperfecta 26 0.032
377
P MCR083 Microphthalmia Syndromic 6 26 0.032
378
P SPS133 Spastic Paraplegia 2, X-Linked 26 0.032
379
SYN016 Syndactyly Cenani Lenz Type 26 0.032
380
GRS010 Gerstmann-Straussler-Scheinker Syndrome 25 0.032
381
HRD052 Hereditary Mucoepithelial Dysplasia 25 0.032
382
JVN017 Juvenile Macular Degeneration and Hypotrichosis 25 0.032
383
RCH002 Richards-Rundle Syndrome 25 0.032
384
LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 25 0.032
385
ALB005 Albinism Ocular Late Onset Sensorineural Deafness 25 0.032
386
MMS001 Momo Syndrome 25 0.032
387
GRL002 Gorlin Chaudhry Moss Syndrome 25 0.032
388
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 24 0.032
389
MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 24 0.032
390
c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 23 0.032
391
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 23 0.032
392
BLP030 Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type 23 0.032
393
c NRM008 Neuromyelitis Optica Spectrum Disorder 23 0.032
394
LMB011 Limb Deficiencies Distal with Micrognathia 23 0.032
395
BRN036 Brain Stem Infarction 23 0.032
396
AGN008 Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia 23 0.032
397
CRL001 Cerulean Cataract 23 0.032
398
c SPN281 Spinocerebellar Ataxia Autosomal Recessive 7 23 0.032
399
CRN142 Corneal Endothelial Dystrophy and Perceptive Deafness 23 0.032
400
VRT001 Vertebral Artery Occlusion 22 0.032
401
MCR163 Microphthalmia with Linear Skin Defects Syndrome 22 0.032
402
HYP299 Hyperostosis, Endosteal 22 0.032
403
HSH001 Hashimoto-Pritzker Syndrome 22 0.032
404
CRN083 Craniofacial Dyssynostosis 22 0.032
405
c FRN033 Frontonasal Dysplasia 2 21 0.032
406
PRM041 Primary Cortisol Resistance 21 0.032
407
P HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 21 0.032
408
16Q001 16q24.3 Microdeletion Syndrome 21 0.032
409
NRC016 Neuroectodermal Melanolysosomal Disease 21 0.032
410
CDS002 Codas Syndrome 20 0.032
411
c SPN177 Spinocerebellar Ataxia, Autosomal Recessive, 10 20 0.032
412
SPN244 Spondylo-Ocular Syndrome 20 0.032
413
ALB018 Albinism, Oculocutaneous, Type Ii, Modifier of 20 0.032
414
TRC080 Trichomegaly - Retina Pigmentary Degeneration - Dwarfism 19 0.032
415
RDG001 Red-Green Color Blindness 19 0.032
416
MCR224 Microcephaly and Chorioretinopathy with or Without Mental Retardation 19 0.032
417
CRB064 Cerebelloparenchymal Disorder 3 19 0.032
418
HYP530 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 19 0.032
419
MGL027 Megalocornea-Intellectual Disability Syndrome 18 0.032
420
SPN257 Spinocerebellar Ataxia 29, Congenital Nonprogressive 18 0.032
421
c ALB017 Albinism, Oculocutaneous, Type Vi 18 0.032
422
ERM001 Ermine Phenotype 18 0.032
423
HYP213 Hypomelanotic Disorder 17 0.032
424
MYL017 Myelocerebellar Disorder 17 0.032
425
c DST045 Distal Trisomy 6p 17 0.032
426
HPT076 Hepatic Fibrosis - Renal Cysts - Intellectual Disability 17 0.032
427
OTP003 Oto-Palatal-Digital Syndrome 17 0.032
428
P 19P001 19p13.12 Microdeletion Syndrome 16 0.032
429
RTN167 Retinitis Pigmentosa - Intellectual Disability - Deafness - Hypogenitalism 16 0.032
430
8P1001 8p11.2 Deletion Syndrome 16 0.032
431
XLN077 X-Linked Immunoneurologic Disorder 16 0.032
432
MTN005 Mietens Syndrome 16 0.032
433
ACC002 Accommodative Spasm 16 0.032
434
SBR006 Subaortic Stenosis Short Stature Syndrome 16 0.032
435
CTR007 Cataract Ataxia Deafness 16 0.032
436
P INT105 Intellectual Disability Multi-Gene Panels 16 0.032
437
OCL032 Oculocerebral Hypopigmentation Syndrome Type Preus 16 0.032
438
6Q1001 6q16 Deletion Syndrome 16 0.032
439
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 16 0.032
440
APL011 Aplasia Cutis Myopia 16 0.032
441
FVL005 Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 16 0.032
442
SPN113 Spinocerebellar Ataxia with Dysmorphism 15 0.032
443
XLN125 X-Linked Intellectual Disability - Dysmorphism - Cerebral Atrophy 15 0.032
444
CDL001 Caudal Appendage Deafness 15 0.032
445
P INF044 Infantile Axonal Neuropathy 15 0.032
446
c SPN284 Spinocerebellar Ataxia 38 15 0.032
447
c XLN105 X-Linked Spastic Paraplegia Type 16 15 0.032
448
OCL056 Oculoosteocutaneous Syndrome 15 0.032
449
c ACH023 Achromatopsia 4 15 0.032
450
SHR076 Short Stature - Intellectual Disability - Eye Anomalies - Cleft Lip/palate 15 0.032
451
NSP011 Nasopalpebral Lipoma - Coloboma - Telecanthus 15 0.032
452
CTR091 Cataract - Nephropathy - Encephalopathy 15 0.032
453
WLL007 Wells-Jankovic Syndrome 15 0.032
454
CTR138 Cataract - Intellectual Disability - Anal Atresia - Urinary Defects 14 0.032
455
NPH039 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 14 0.032
456
c LKD010 Leukodystrophy, Hypomyelinating, 2 14 0.032
457
VND003 Van Den Bosch Syndrome 14 0.032
458
ATX028 Ataxia-Deafness-Intellectual Disability Syndrome 14 0.032
459
CRB061 Cerebellar Hypoplasia Tapetoretinal Degeneration 14 0.032
460
c RTN151 Retinitis Pigmentosa 64 14 0.032
461
FCL035 Facial Dysmorphism - Macrocephaly - Myopia - Dandy-Walker Malformation 14 0.032
462
CRB129 Cerebro-Reno-Digital Syndrome 14 0.032
463
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 14 0.032
464
CHR171 Choroideremia Hypopituitarism 13 0.032
465
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 13 0.032
466
RTN038 Retinal Dysplasia X-Linked 13 0.032
467
PRP081 Paraplegia - Intellectual Disability - Hyperkeratosis 13 0.032
468
PLL010 Pellagra-Like Skin Rash - Neurological Manifestations 13 0.032
469
c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 13 0.032
470
AMR005 Amaurosis - Hypertrichosis 13 0.032
471
LRY043 Laryngeal Abductor Paralysis - Intellectual Disability 12 0.032
472
INT236 Intellectual Disability - Unusual Facies 12 0.032
473
SPR038 Supranuclear Ocular Palsy 12 0.032
474
P ATS031 Autosomal Recessive Cerebellar Ataxia Type 1 12 0.032
475
DPH008 Diphenylhydantoin Toxicity 12 0.032
476
FTL019 Fetal Iodine Syndrome 11 0.032
477
P SYN028 Syngnathia Multiple Anomalies 11 0.032
478
XLN122 X-Linked Intellectual Disability - Short Stature - Obesity 11 0.032
479
c NGH017 Night Blindness, Congenital Stationary , 1d, Autosomal Recessive 11 0.032
480
BNG068 Benign Paroxysmal Tonic Upgaze of Childhood with Ataxia 11 0.032
481
OLV003 Olivopontocerebellar Atrophy Deafness 10 0.032
482
ATX020 Ataxia - Tapetoretinal Degeneration 10 0.032
483
SPS081 Spastic Ataxia with Congenital Miosis 10 0.032
484
TRC089 Trichodermal Syndrome - Intellectual Disability 10 0.032
485
DNN006 Duane Anomaly - Myopathy - Scoliosis 9 0.032
486
ARC014 Auriculoocular Anomalies - Cleft Lip 9 0.032
487
BRR001 Barre-Lieou Syndrome 7 0.032
488
c CSK002 Cask-Related Intellectual Disability 6 0.032
489
CHR284 Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids 5 0.032
490
CNG272 Congenital Achiasma 5 0.032