Search results for "ptosis"

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

589 hits were found for 'ptosis'

# Family MCID Name MIFTS Score
1
c BLP002 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 44 5.016
2
c BRT040 Baraitser-Winter Syndrome 35 4.085
3
P BLP012 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 29 3.888
4
c BLP013 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 18 3.500
5
BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 18 3.491
6
DFN004 Deafness Conductive Ptosis Skeletal Anomalies 17 3.482
7
TCK005 Tucker Syndrome 14 3.462
8
P PTS008 Ptosis, Congenital 22 3.143
9
MCR042 Microbrachycephaly Ptosis Cleft Lip 18 3.124
10
PTS007 Ptosis Strabismus Ectopic Pupils 12 3.103
11
c BLP029 Blepharophimosis - Epicanthus Inversus - Ptosis Due to 3q23 Microdeletion 12 3.064
12
BLP028 Blepharophimosis-Ptosis-Intellectual Disability Syndrome 18 2.216
13
c HRD067 Hereditary Congenital Ptosis 7 2.216
14
JRG001 Jorgenson Lenz Syndrome 20 2.202
15
PTS013 Ptosis - Upper Ocular Movement Limitation - Absence of Lacrimal Punctum 11 2.202
16
ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 10 2.202
17
ANR015 Aniridia Ptosis Mental Retardation Obesity Familial 3 2.186
18
OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 3 2.186
19
SPR026 Sparse Hair Ptosis Mental Retardation 3 2.186
20
CNG098 Congenital Heart Disease Ptosis Hypodontia Craniostosis 2 2.186
21
CHR152 Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 1 2.186
22
TRF002 Treft Sanborn Carey Syndrome 11 2.167
23
c BLP021 Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation 10 2.167
24
c BLP019 Blepharophimosis - Epicanthus Inversus - Ptosis Due to Polya Expansion 8 2.167
25
c PTS009 Ptosis, Hereditary Congenital, 1 6 2.167
26
c PTS010 Ptosis, Hereditary Congenital 2 6 2.167
27
VRT006 Vertebral Fusion Posterior Lumbosacral Blepharoptosis 5 2.167
28
PTS005 Ptosis Coloboma Mental Retardation 3 2.167
29
PTS014 Ptosis - Syndactyly - Learning Difficulties 3 2.167
30
ART058 Arthrogryposis Multiple Congenita, Ophthalmoplegia, Ptosis 2 2.167
31
LYM111 Lymphedema - Ptosis 2 2.167
32
PTS006 Ptosis Strabismus Diastasis 1 2.167
33
MRC002 Marcus Gunn Phenomenon 30 1.631
34
P BRT038 Baraitser-Winter Syndrome 1 40 1.606
35
WLF002 Wolf-Hirschhorn Syndrome 61 1.576
36
CRN054 Carnevale Syndrome 13 1.576
37
3MC001 3mc Syndrome 2 26 1.557
38
WND002 Wandering Spleen 28 1.532
39
ISL037 Isolated Anterior Cervical Hypertrichosis 20 1.532
40
HYP182 Hypertrichosis, Anterior Cervical 10 1.532
41
RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 9 1.532
42
JNS005 Jones Hersh Yusk Syndrome 9 1.532
43
TSK001 Tsukahara Azuno Kajii Syndrome 4 1.532
44
MHT001 Mehta Lewis Patton Syndrome 3 1.532
45
MCP019 Mcpherson Robertson Cammarano Syndrome 2 1.532
46
BLP004 Blepharophimosis 37 0.326
47
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 43 0.144
48
c OPH004 Ophthalmoplegia 54 0.141
49
c MNT147 Mental Retardation 56 0.134
50
c MCR010 Microcephaly 56 0.104
51
P STR020 Strabismus 51 0.104
52
CLB001 Coloboma 68 0.090
53
OCL008 Oculopharyngeal Muscular Dystrophy 64 0.090
54
ANR002 Aniridia 64 0.085
55
EYD002 Eye Disease 58 0.085
56
P SPR013 Spiradenoma 55 0.085
57
P MYS003 Myasthenia Gravis 79 0.079
58
P SHR002 Short Stature 68 0.079
59
c MSC005 Muscular Dystrophy 61 0.079
60
c CHR095 Chronic Progressive External Ophthalmoplegia 56 0.079
61
THR013 Thoracic Outlet Syndrome 52 0.079
62
GLD002 Goldberg-Shprintzen Megacolon Syndrome 49 0.079
63
c SYN001 Syndactyly 50 0.074
64
RFR003 Refractive Error 47 0.074
65
AMB002 Amblyopia 46 0.074
66
LYM029 Lymphedema-Distichiasis Syndrome 45 0.074
67
P HRN001 Horner's Syndrome 42 0.074
68
EST005 Esotropia 42 0.074
69
c MYP006 Myopia 41 0.074
70
SYN053 Syndromic Diarrhea 34 0.074
71
P PRM019 Premature Ovarian Failure 66 0.067
72
KRN002 Kearns-Sayre Syndrome 63 0.067
73
CYS005 Cysticercosis 62 0.067
74
c DST002 Distal Arthrogryposis 62 0.067
75
c BRC006 Brachydactyly 60 0.067
76
P BLP003 Blepharospasm 47 0.067
77
ECT005 Ectropion 42 0.067
78
c AXN002 Axenfeld-Rieger Syndrome 69 0.060
79
ARS001 Aarskog-Scott Syndrome 65 0.060
80
LRN003 Learning Disability 62 0.060
81
P CNJ013 Conjunctivitis 61 0.060
82
MTR046 Maternally Inherited Diabetes and Deafness 60 0.060
83
P HYP080 Hypogonadism 59 0.060
84
P DWR001 Dwarfism 54 0.060
85
PTT004 Pituitary Apoplexy 53 0.060
86
P DST010 Distal Arthrogryposis Type 5 51 0.060
87
DBW001 Dubowitz Syndrome 51 0.060
88
MNN014 Mononeuritis 51 0.060
89
c OPT004 Optic Atrophy 49 0.060
90
SCH016 Schimke Immunoosseous Dysplasia 48 0.060
91
P ATX010 Ataxia Neuropathy Spectrum 47 0.060
92
CRN077 Cranio Osteoarthropathy 43 0.060
93
NRN002 Neuronitis 43 0.060
94
TTR016 Tetra-Amelia Syndrome 43 0.060
95
FCL012 Facial Paralysis 40 0.060
96
P FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 37 0.060
97
INF006 Infant Botulism 37 0.060
98
P MYP018 Myopia 6 36 0.060
99
MSM004 Mesomelia-Synostoses Syndrome 28 0.060
100
P SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 28 0.060
101
P DST041 Distal Monosomy 3p 27 0.060
102
SMT004 Smith-Lemli-Opitz Syndrome 84 0.052
103
P RBN001 Rubinstein-Taybi Syndrome 77 0.052
104
P RFS001 Refsum Disease 77 0.052
105
P STH001 Saethre-Chotzen Syndrome 76 0.052
106
c JBR001 Joubert Syndrome 69 0.052
107
P NNN008 Noonan Syndrome 1 68 0.052
108
ACN002 Acanthosis Nigricans 64 0.052
109
MNK003 Muenke Syndrome 64 0.052
110
P CNG046 Congenital Fiber-Type Disproportion 62 0.052
111
P MYP004 Myopathy 61 0.052
112
JCB001 Jacobsen Syndrome 60 0.052
113
c MCP009 Mucopolysaccharidosis Ii 58 0.052
114
P JBR004 Joubert Syndrome 2 57 0.052
115
BRJ001 Borjeson-Forssman-Lehmann Syndrome 57 0.052
116
SNS001 Sensorineural Hearing Loss 57 0.052
117
c LPR012 Leopard Syndrome 1 55 0.052
118
CCH002 Coach Syndrome 54 0.052
119
c SYN005 Synostosis 54 0.052
120
NRF008 Neurofibromatosis-Noonan Syndrome 53 0.052
121
P CLF002 Cleft Palate 51 0.052
122
P CRN139 Cornelia De Lange Syndrome 1 48 0.052
123
CRT063 Creatine Transporter Deficiency 47 0.052
124
BRN003 Branchiooculofacial Syndrome 47 0.052
125
PRT093 Proteus Syndrome, Somatic 46 0.052
126
JBR005 Joubert Syndrome with Ocular Anomalies 46 0.052
127
OCL014 Oculofaciocardiodental Syndrome 45 0.052
128
PHL006 Phelan-Mcdermid Syndrome 42 0.052
129
HYP265 Hypotonia 40 0.052
130
MLT054 Multiple Pterygium Syndrome Escobar Type 40 0.052
131
P SCH035 Schwartz Jampel Syndrome Type 1 39 0.052
132
TRS007 Trismus-Pseudocamptodactyly Syndrome 37 0.052
133
P KBK002 Kabuki Syndrome 1 37 0.052
134
c CNG047 Congenital Fibrosis of the Extraocular Muscles 36 0.052
135
P KLN008 Koolen De Vries Syndrome 34 0.052
136
LTR009 Lateral Meningocele Syndrome 34 0.052
137
c TTR017 Tetrasomy 12p 33 0.052
138
LTH002 Lathosterolosis 32 0.052
139
LGP001 Lagophthalmos 31 0.052
140
CHR101 Char Syndrome 31 0.052
141
FRN022 Frontofacionasal Dysplasia 28 0.052
142
JBR008 Juberg-Hayward Syndrome 27 0.052
143
MTC059 Mitochondrial Dna Depletion Syndrome 5 26 0.052
144
BLP030 Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type 24 0.052
145
2P1002 2p15p16.1 Microdeletion Syndrome 24 0.052
146
SCR025 Scarf Syndrome 23 0.052
147
WCK003 Wieacker-Wolf Syndrome 23 0.052
148
MCD002 Mcdonough Syndrome 22 0.052
149
CDS002 Codas Syndrome 21 0.052
150
FML093 Familial Visceral Myopathy with External Ophthalmoplegia 21 0.052
151
c 8Q2001 8q21.11 Microdeletion Syndrome 21 0.052
152
KPL001 Kaplan Plauchu Fitch Syndrome 19 0.052
153
BRD023 Bird Headed Dwarfism Montreal Type 19 0.052
154
NGB001 Naguib-Richieri-Costa Syndrome 18 0.052
155
PTR025 Pterygium Colli - Intellectual Disability - Digital Anomalies 17 0.052
156
XLN125 X-Linked Intellectual Disability - Dysmorphism - Cerebral Atrophy 17 0.052
157
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 17 0.052
158
SPN113 Spinocerebellar Ataxia with Dysmorphism 17 0.052
159
RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 16 0.052
160
BLP014 Blepharoptosis Myopia Ectopia Lentis 16 0.052
161
SHR076 Short Stature - Intellectual Disability - Eye Anomalies - Cleft Lip/palate 16 0.052
162
DLY006 Delayed Speech - Facial Asymmetry - Strabismus - Ear Lobe Creases 15 0.052
163
INT242 Intellectual Disability - Myopathy - Short Stature - Endocrine Defect 14 0.052
164
CTR089 Cataract - Aberrant Oral Frenula - Growth Delay 14 0.052
165
PST075 Posterior Fusion of Lumbosacral Vertebrae - Blepharoptosis 14 0.052
166
SHR053 Short Stature - Valvular Heart Disease - Characteristic Facies 13 0.052
167
P OBS005 Obesity 89 0.042
168
P MLT019 Multiple Myeloma 88 0.042
169
INF030 Infectious Mononucleosis 84 0.042
170
AND002 Androgen Insensitivity Syndrome 80 0.042
171
CRZ001 Crouzon Syndrome 78 0.042
172
P LKM002 Leukemia 76 0.042
173
P ALX003 Alexander Disease 76 0.042
174
KWS002 Kawasaki Disease 75 0.042
175
LSH001 Leishmaniasis 73 0.042
176
P TMP003 Temporal Arteritis 72 0.042
177
P RTH001 Rothmund-Thomson Syndrome 70 0.042
178
P THY023 Thymoma 68 0.042
179
P DGR001 Digeorge Syndrome 67 0.042
180
ERD001 Erdheim-Chester Disease 67 0.042
181
P TRN020 Turner Syndrome 67 0.042
182
P CNT004 Centronuclear Myopathy 66 0.042
183
c AMY001 Amyotrophic Lateral Sclerosis 66 0.042
184
P ACT101 Acute Lymphoblastic Leukemia 64 0.042
185
c AMY077 Amyotrophic Lateral Sclerosis Type 18 63 0.042
186
LDD001 Ladd Syndrome 62 0.042
187
c MYL007 Myeloma 60 0.042
188
WGR001 Wagr Syndrome 60 0.042
189
P FTL006 Fetal Alcohol Spectrum Disorder 60 0.042
190
P MLS001 Melas Syndrome 60 0.042
191
P PLY019 Polyneuropathy 60 0.042
192
P AMY074 Amyotrophic Lateral Sclerosis Type 14 59 0.042
193
P CFF001 Coffin-Siris Syndrome 59 0.042
194
CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 59 0.042
195
JCK001 Jackson-Weiss Syndrome 58 0.042
196
MYC002 Mycobacterium Avium Complex Disease 58 0.042
197
c ATX004 Ataxia 58 0.042
198
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 57 0.042
199
HDC001 Headache 57 0.042
200
P OP3001 Opa3-Related 3-Methylglutaconic Aciduria 57 0.042
201
c CTR002 Cataract 57 0.042
202
ANH002 Anhidrosis 57 0.042
203
c LYM026 Lymphoblastic Leukemia 56 0.042
204
P HLP012 Holoprosencephaly-3 56 0.042
205
P FNC025 Fanconi Anemia, Complementation Group J 55 0.042
206
CTN007 Cutaneous Leishmaniasis 55 0.042
207
PLY020 Polyradiculoneuropathy 54 0.042
208
HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 54 0.042
209
P EXP004 Exophthalmos 54 0.042
210
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 54 0.042
211
MBS002 Moebius Syndrome 53 0.042
212
P EHL009 Ehlers-Danlos Syndrome Type Iv 53 0.042
213
ALL001 Allan-Herndon-Dudley Syndrome 53 0.042
214
c CRD167 Cardiofaciocutaneous Syndrome 4 52 0.042
215
c LYM025 Lymphedema 52 0.042
216
DGS001 Degos Disease 51 0.042
217
c WRD009 Waardenburg Syndrome Type 3 51 0.042
218
DYS073 Dysphagia 51 0.042
219
SST001 Sost-Related Sclerosing Bone Dysplasia 51 0.042
220
KNS001 Kniest Dysplasia 51 0.042
221
c WRD007 Waardenburg Syndrome Type 2a 50 0.042
222
c JBR013 Joubert Syndrome 8 50 0.042
223
P WRD005 Waardenburg Syndrome Type I 49 0.042
224
MCP016 Mecp2 Duplication Syndrome 49 0.042
225
P EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 49 0.042
226
CRZ003 Crouzonodermoskeletal Syndrome 48 0.042
227
EPD029 Epidermolysis Bullosa Simplex, Generalized 47 0.042
228
RVL002 Ruvalcaba Syndrome 46 0.042
229
MYK002 Myokymia 46 0.042
230
MYP019 Myopathy with Postural Muscle Atrophy, X-Linked 45 0.042
231
APR001 Apraxia 45 0.042
232
FTL007 Fetal Hydantoin Syndrome 45 0.042
233
XLN011 X-Linked Centronuclear Myopathy 44 0.042
234
RDL002 Radioulnar Synostosis 43 0.042
235
NGR001 Nager Acrofacial Dysostosis 42 0.042
236
c PRX056 Peroxisome Biogenesis Disorder 11b 42 0.042
237
P RBN011 Robinow Syndrome, Autosomal Dominant 42 0.042
238
P ORF011 Orofaciodigital Syndrome 6 41 0.042
239
LCK001 Locked-in Syndrome 41 0.042
240
GNT006 Giant Papillary Conjunctivitis 41 0.042
241
MYH012 Myhre Syndrome 40 0.042
242
DNR002 Duane-Radial Ray Syndrome 40 0.042
243
P DNS004 Duane Syndrome Type 2 40 0.042
244
WND001 Wound Botulism 40 0.042
245
EXT022 Exotropia 39 0.042
246
22Q001 22q11.2 Duplication 39 0.042
247
GDS001 Good Syndrome 38 0.042
248
JBR007 Joubert Syndrome with Renal Anomalies 38 0.042
249
PPL019 Papillary Conjunctivitis 38 0.042
250
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 38 0.042
251
c DMN027 Dominant Optic Atrophy 37 0.042
252
PRG031 Progressive Hemifacial Atrophy 37 0.042
253
P RNG004 Ring Chromosome 1 37 0.042
254
TLS001 Tolosa-Hunt Syndrome 36 0.042
255
HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 36 0.042
256
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36 0.042
257
P PRR021 Perrault Syndrome 4 36 0.042
258
c MRD002 Marden-Walker Syndrome 35 0.042
259
INT042 Internuclear Ophthalmoplegia 34 0.042
260
BRK004 Barakat Syndrome 34 0.042
261
P CHN018 Chondrodysplasia Punctata 2, X-Linked 34 0.042
262
c RBN009 Robinow Syndrome, Autosomal Recessive 33 0.042
263
ENT005 Entropion 32 0.042
264
ZNC001 Zunich Neuroectodermal Syndrome 32 0.042
265
FCS005 Faces Syndrome 32 0.042
266
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 31 0.042
267
DLT006 Dilated Cardiomyopathy with Hypergonadotropic Hypogonadism 31 0.042
268
CRD019 Cardiocranial Syndrome 31 0.042
269
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 31 0.042
270
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 30 0.042
271
P MNS007 Monosomy 18p 30 0.042
272
HYP347 Hypotonia-Cystinuria Syndrome 30 0.042
273
SYS006 Say Syndrome 29 0.042
274
BLP001 Blepharochalasis 29 0.042
275
IRS007 Iris Hypoplasia 28 0.042
276
HRT030 Hartsfield Syndrome 27 0.042
277
SYN016 Syndactyly Cenani Lenz Type 27 0.042
278
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 26 0.042
279
FDB001 Foodborne Botulism 26 0.042
280
NTV001 Native American Myopathy 26 0.042
281
c MSC016 Mosaic Trisomy 14 25 0.042
282
P INT006 Intestinal Botulism 25 0.042
283
TLH001 Tel Hashomer Camptodactyly Syndrome 24 0.042
284
CNT070 Centronuclear Myopathy, Autosomal, Modifier of 23 0.042
285
ACR033 Acrofrontofacionasal Dysostosis Syndrome 23 0.042
286
c CHR209 Chromosome 17p Duplication 23 0.042
287
GRM003 German Syndrome 23 0.042
288
BRC019 Brachycephalofrontonasal Dysplasia 23 0.042
289
c ART104 Arthrogryposis, Distal, Type 5d 23 0.042
290
PSD045 Pseudoprogeria Syndrome 23 0.042
291
c 2Q3005 2q31.1 Microdeletion Syndrome 23 0.042
292
MTC061 Mitochondrial Dna Depletion Syndrome 1 22 0.042
293
ASC005 Ascher's Syndrome 22 0.042
294
c BNG076 Benign Exophthalmos Syndrome 22 0.042
295
CRB058 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 22 0.042
296
CRN190 Craniosynostosis - Fibular Aplasia 21 0.042
297
CNG118 Congenital Nonprogressive Myopathy with Moebius and Robin Sequences 21 0.042
298
AND005 Androgen Insensitivity Syndrome, Mild 21 0.042
299
HYP474 Hypertrichosis Cubiti - Short Stature 20 0.042
300
c 4Q2001 4q21 Microdeletion Syndrome 20 0.042
301
XLN073 X-Linked Mandibulofacial Dysostosis 20 0.042
302
NSD003 Nasodigitoacoustic Syndrome 20 0.042
303
NRF010 Neurofaciodigitorenal Syndrome 20 0.042
304
DRM023 Dermoodontodysplasia 20 0.042
305
TBS002 Teebi Shaltout Syndrome 19 0.042
306
c CHR252 Chromosome 5p Duplication 19 0.042
307
MNS009 Monosomy 13q14 19 0.042
308
MCR047 Microcephaly Cervical Spine Fusion Anomalies 19 0.042
309
MSC027 Muscular Dystrophy, Congenital, Infantile with Cataract and Hypogonadism 19 0.042
310
BLP010 Blepharophimosis Intellectual Disability Syndromes 18 0.042
311
RZN001 Rozin Hertz Goodman Syndrome 18 0.042
312
P DST036 Distal Trisomy 15q 18 0.042
313
CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 18 0.042
314
SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 18 0.042
315
ANR012 Aniridia Absent Patella 18 0.042
316
c DST045 Distal Trisomy 6p 18 0.042
317
HPT076 Hepatic Fibrosis - Renal Cysts - Intellectual Disability 17 0.042
318
PLY046 Polysyndactyly Cardiac Malformation 17 0.042
319
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 17 0.042
320
ITR001 Iatrogenic Botulism 16 0.042
321
SVR009 Seaver Cassidy Syndrome 16 0.042
322
EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 16 0.042
323
GRW019 Growth Deficiency - Brachydactyly - Dysmorphism 16 0.042
324
P INT105 Intellectual Disability Multi-Gene Panels 16 0.042
325
DFN225 Deafness - Small Bowel Diverticulosis - Neuropathy 15 0.042
326
DYS131 Dysmorphism - Short Stature - Deafness - Disorder of Sex Development 15 0.042
327
CRB129 Cerebro-Reno-Digital Syndrome 15 0.042
328
INH013 Inhalational Botulism 15 0.042
329
c ADL069 Adult Intestinal Botulism 14 0.042
330
FLL046 Fallot Complex - Intellectual Disability - Growth Delay 14 0.042
331
PRP081 Paraplegia - Intellectual Disability - Hyperkeratosis 14 0.042
332
KZL001 Kozlowski Brown Hardwick Syndrome 14 0.042
333
P ART039 Arthrogryposis Due to Muscular Dystrophy 14 0.042
334
PLY088 Polyvalvular Heart Disease Syndrome 14 0.042
335
EYB003 Eyebrow Duplication - Syndactyly 13 0.042
336
VSC038 Visceral Neuropathy - Brain Anomalies - Facial Dysmorphism - Developmental Delay 13 0.042
337
OPH010 Ophthalmoplegia - Intellectual Disability - Lingua Scrotalis 13 0.042
338
INT236 Intellectual Disability - Unusual Facies 13 0.042
339
INT235 Intellectual Disability-Unusual Facies, Davis-Lafer Type 13 0.042
340
MCR174 Macrocephaly - Short Stature - Paraplegia 13 0.042
341
TRG014 Trigonocephaly - Broad Thumbs 13 0.042
342
NGH011 Night Blindness - Skeletal Anomalies - Dysmorphism 12 0.042
343
TMB001 Tome Brunet Fardeau Syndrome 12 0.042
344
NND004 Non-Distal Monosomy 10q 12 0.042
345
TXN001 Toxin-Mediated Infectious Botulism 11 0.042
346
PRP069 Purpura Simplex 11 0.042
347
TRC089 Trichodermal Syndrome - Intellectual Disability 10 0.042
348
BLP023 Blepharoptosis - Cleft Palate - Ectrodactyly - Dental Anomalies 9 0.042
349
MCR196 Macrostomia - Preauricular Tags - External Ophthalmoplegia 8 0.042
350
OPH009 Ophthalmoplegia - Myalgia - Tubular Aggregates 5 0.042
351
P ATX002 Ataxia Telangiectasia 87 0.030
352
P TYS001 Tay-Sachs Disease 83 0.030
353
c NNN003 Noonan Syndrome 79 0.030
354
P MTH008 Methylmalonic Acidemia 79 0.030
355
SKN016 Skin Disease 74 0.030
356
MLT021 Multiple System Atrophy 73 0.030
357
P CHR071 Charcot-Marie-Tooth Disease 73 0.030
358
c DBT009 Diabetes Mellitus 73 0.030
359
P PRP001 Propionic Acidemia 72 0.030
360
P WLF004 Wolfram Syndrome 71 0.030
361
NLP001 Nail-Patella Syndrome 70 0.030
362
P MCH002 Machado-Joseph Disease 70 0.030
363
P CNG401 Congenital Heart Disease 69 0.030
364
PTR006 Peters Plus Syndrome 68 0.030
365
c HYP086 Hypothyroidism 68 0.030
366
P CNG030 Congenital Muscular Dystrophy 67 0.030
367
P LBR001 Leber Congenital Amaurosis 67 0.030
368
P CRD013 Cardiofaciocutaneous Syndrome 66 0.030
369
LGG001 Legg-Calve-Perthes Disease 66 0.030
370
CST001 Costello Syndrome 66 0.030
371
CHR103 Charge Syndrome 65 0.030
372
PRP030 Purpura 65 0.030
373
c UVT001 Uveitis 65 0.030
374
ADN018 Adenoma 65 0.030
375
LYM017 Lyme Disease 65 0.030
376
c SCL016 Scleroderma 64 0.030
377
TTN003 Tetanus 64 0.030
378
P PRM030 Permanent Neonatal Diabetes Mellitus 63 0.030
379
P KRT004 Keratitis 63 0.030
380
MTC007 Mitochondrial Complex I Deficiency 63 0.030
381
P CRB042 Cerebellar Ataxia 62 0.030
382
P PSD020 Pseudohypoaldosteronism Type Ii 62 0.030
383
CNT009 Central Core Myopathy 62 0.030
384
c EPD003 Epidermolysis Bullosa Simplex 61 0.030
385
NRP001 Neuropathy 61 0.030
386
THR004 Thrombocytosis 60 0.030
387
GNG013 Gingivitis 60 0.030
388
P PRC019 Precocious Puberty 59 0.030
389
ALP008 Alopecia 59 0.030
390
WRN002 Wernicke-Korsakoff Syndrome 59 0.030
391
CLF001 Cleft Lip 59 0.030
392
MGC001 Megacolon 59 0.030
393
NTR001 Neutral Lipid Storage Disease 59 0.030
394
P ADN016 Adenocarcinoma 58 0.030
395
AMN001 Amenorrhea 58 0.030
396
GLM004 Gliomatosis Cerebri 58 0.030
397
EPD016 Epidermolysis Bullosa 57 0.030
398
PRT039 Proteinuria 57 0.030
399
c CTS001 Cutis Laxa 57 0.030
400
P FTL009 Fetal Akinesia Deformation Sequence 57 0.030
401
NRF007 Neurofibroma 57 0.030
402
PLS011 Plasmacytoma 56 0.030
403
P KLL001 Kallmann Syndrome 56 0.030
404
P PLY006 Polydactyly 56 0.030
405
c KBK001 Kabuki Syndrome 56 0.030
406
ART001 Arterial Tortuosity Syndrome 55 0.030
407
TTH006 Tooth Disease 55 0.030
408
ECT006 Ectodermal Dysplasia 55 0.030
409
c TRM003 Tremor 55 0.030
410
LMB002 Lambert-Eaton Myasthenic Syndrome 54 0.030
411
CYT001 Cytochrome-C Oxidase Deficiency Disease 54 0.030
412
P HMN013 Hemangiopericytoma 54 0.030
413
PRM013 Premature Menopause 54 0.030
414
RHY001 Rhyns Syndrome 53 0.030
415
CRN024 Corneal Disease 53 0.030
416
c ANT034 Anterior Uveitis 53 0.030
417
AND003 Andersen-Tawil Syndrome 53 0.030
418
P KRT007 Keratoconus 53 0.030
419
BLN003 Blindness 52 0.030
420
PRL019 Prolidase Deficiency 52 0.030
421
RSD004 Rosai-Dorfman Disease 52 0.030
422
c HYD002 Hydronephrosis 52 0.030
423
c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 51 0.030
424
HRD030 Hereditary Neuralgic Amyotrophy 51 0.030
425
P CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 51 0.030
426
P MWT001 Mowat-Wilson Syndrome 51 0.030
427
THR009 Thrombocytopenia-Absent Radius Syndrome 50 0.030
428
RPP001 Rapp-Hodgkin Syndrome 50 0.030
429
LGS001 Legius Syndrome 50 0.030
430
KRT008 Keratopathy 50 0.030
431
CLS010 Cluster Headache 50 0.030
432
PLX002 Plexiform Neurofibroma 49 0.030
433
CTS002 Cat-Scratch Disease 49 0.030
434
ALB002 Albinism 48 0.030
435
CNV002 Conversion Disorder 48 0.030
436
HDN002 Head Injury 48 0.030
437
DRY001 Dry Eye Syndrome 48 0.030
438
DPM001 Dopamine Beta-Hydroxylase Deficiency 47 0.030
439
P OVR046 Ovarian Cyst 47 0.030
440
c DMY001 Demyelinating Polyneuropathy 46 0.030
441
P ATN005 Autonomic Dysfunction 46 0.030
442
ANR040 Aneurysm 45 0.030
443
DYS018 Dysostosis 45 0.030
444
GYN001 Gynecomastia 45 0.030
445
P TRC072 Treacher Collins Syndrome 1 45 0.030
446
c JVN024 Juvenile Hereditary Hemochromatosis 44 0.030
447
BRS090 Breast Reconstruction 44 0.030
448
MYT011 Myotonia 43 0.030
449
P WRB002 Warburg Micro Syndrome 1 42 0.030
450
TTH002 Tooth Agenesis 42 0.030
451
HMF004 Hemifacial Spasm 42 0.030
452
P CNG246 Congenital Hydronephrosis 42 0.030
453
MYS017 Myasthenia, Limb-Girdle, Familial 42 0.030
454
IRT001 Iritis 42 0.030
455
c CRD163 Cardiofaciocutaneous Syndrome 2 42 0.030
456
c HYP087 Hypotrichosis 42 0.030
457
SLW003 Slow-Channel Congenital Myasthenic Syndrome 41 0.030
458
P ATS029 Autosomal Recessive Progressive External Ophthalmoplegia 41 0.030
459
HDR001 Hidrocystoma 41 0.030
460
GST040 Gastric Adenocarcinoma 40 0.030
461
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 40 0.030
462
CNG113 Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 40 0.030
463
P PRM018 Primary Hypertrophic Osteoarthropathy 39 0.030
464
PHM001 Phimosis 39 0.030
465
CRB045 Cerebellar Hypoplasia 39 0.030
466
END049 Endplate Acetylcholinesterase Deficiency 39 0.030
467
ELP001 Elephantiasis 38 0.030
468
MTC065 Mitochondrial Dna Depletion Syndrome 8a 38 0.030
469
IRD001 Iridocyclitis 38 0.030
470
c NNN011 Noonan Syndrome 4 37 0.030
471
SPS003 Spastic Diplegia 37 0.030
472
SPS057 Spasticity 37 0.030
473
c ATS061 Autosomal Recessive Hypotrichosis 36 0.030
474
c SPN079 Spinocerebellar Ataxia Type 28 36 0.030
475
P LNZ001 Lenz Microphthalmia Syndrome 35 0.030
476
ADS002 Adie Syndrome 35 0.030
477
INF047 Infantile Free Sialic Acid Storage Disease 34 0.030
478
KFM001 Kaufman Oculocerebrofacial Syndrome 34 0.030
479
SLH001 Salih Myopathy 34 0.030
480
THY025 Thymus Cancer 34 0.030
481
ARM003 Aromatic Amino Acid Decarboxylase Deficiency 32 0.030
482
BRW009 Brown-Vialetto-Van Laere Syndrome 1 32 0.030
483
P CRN035 Cranial Nerve Palsy 31 0.030
484
MCR183 Microcephaly-Capillary Malformation Syndrome 31 0.030
485
PRN033 Paraneoplastic Neurologic Disorders 31 0.030
486
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 30 0.030
487
PNT009 Pontine Tegmental Cap Dysplasia 30 0.030
488
MYS034 Myasthenia, Congenital, with Tubular Aggregates 1 29 0.030
489
MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 29 0.030
490
BFD001 Bifid Nose 29 0.030
491
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 29 0.030
492
VNM003 Van Maldergem Syndrome 1 29 0.030
493
ALP071 Alpha-Thalassemia - Intellectual Disability Syndrome Linked to Chromosome 16 28 0.030
494
HNM002 Hinman Syndrome 28 0.030
495
BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 28 0.030
496
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 28 0.030
497
TFT003 Tufting Enteropathy 28 0.030
498
TRM011 Terminal Osseous Dysplasia 28 0.030
499
PRM056 Primrose Syndrome 28 0.030
500
MBS001 Mobius Syndrome 27 0.030
501
c CRD132 Cardiac Conduction Defect 27 0.030
502
MNC011 Minicore Myopathy with External Ophthalmoplegia 27 0.030
503
ACR041 Acromelic Frontonasal Dysostosis 27 0.030
504
c CRN217 Craniosynostosis 3 27 0.030
505
OCL063 Oculopharyngodistal Myopathy 27 0.030
506
c 2P2001 2p21 Microdeletion Syndrome 27 0.030
507
3MC002 3mc Syndrome 1 27 0.030
508
FZL001 Fazio Londe Syndrome 27 0.030
509
MYS022 Myasthenic Syndrome, Fast-Channel Congenital 26 0.030
510
CRN102 Craniosynostosis, Anal Anomalies, and Porokeratosis 26 0.030
511
MCR062 Microcephaly, Hiatal Hernia and Nephrotic Syndrome 26 0.030
512
GRL002 Gorlin Chaudhry Moss Syndrome 26 0.030
513
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 25 0.030
514
HYP048 Hypotropia 25 0.030
515
NNN018 Noonan-Like Syndrome Disorder with or Without Juvenile Myelomonocytic Leukemia 25 0.030
516
ASS002 Aase-Smith Syndrome 25 0.030
517
VRN001 Vernal Conjunctivitis 25 0.030
518
P SGW003 Segawa Syndrome, Recessive 25 0.030
519
c JBR031 Joubert Syndrome 21 24 0.030
520
LNR005 Linear Scleroderma 24 0.030
521
c GLY043 Glycogen Storage Disease Xii 24 0.030
522
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 24 0.030
523
CMB018 Combined Oxidative Phosphorylation Deficiency 7 23 0.030
524
GGN004 Gigantomastia 23 0.030
525
PYR025 Pyruvate Dehydrogenase E2 Deficiency 23 0.030
526
CMB026 Combined Oxidative Phosphorylation Deficiency 12 22 0.030
527
PRS052 Paris-Trousseau Thrombocytopenia 22 0.030
528
P FRN036 Frontonasal Dysplasia 1 22 0.030
529
ART007 Aorta Atresia 22 0.030
530
c 3Q1001 3q13 Microdeletion Syndrome 22 0.030
531
MNG003 Mungan Syndrome 22 0.030
532
TRC007 Tricuspid Valve Prolapse 22 0.030
533
EXP002 Exposure Keratitis 21 0.030
534
3PD001 3p Deletion Syndrome 21 0.030
535
c CNG333 Congenital Horner Syndrome 21 0.030
536
c SPS072 Spastic Ataxia 1, Autosomal Dominant 20 0.030
537
P MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 20 0.030
538
c PRG049 Progressive External Ophthalmoplegia, Autosomal Dominant, 3 20 0.030
539
PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 20 0.030
540
OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 20 0.030
541
P ATX025 Ataxia, Spastic, 5, Autosomal Recessive 20 0.030
542
DHL001 Dahlberg Borer Newcomer Syndrome 20 0.030
543
MLP004 Malpuech Facial Clefting Syndrome 19 0.030
544
c JBR024 Joubert Syndrome 14 19 0.030
545
PLY111 Polyglucosan Body Myopathy, Early-Onset, with or Without Immunodeficiency 18 0.030
546
c BRT039 Baraitser-Winter Syndrome 2 18 0.030
547
MCR170 Microcephaly - Cleft Palate 18 0.030
548
PRG095 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 6 18 0.030
549
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 18 0.030
550
GRW004 Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 18 0.030
551
MTC078 Mitochondrial Dna Depletion Syndrome 11 18 0.030
552
OCL003 Oculomotor Nerve Paralysis 17 0.030
553
OTP003 Oto-Palatal-Digital Syndrome 17 0.030
554
c EPL102 Epileptic Encephalopathy, Early Infantile, 18 17 0.030
555
c CNG143 Congenital Fibrosis of the Extraocular Muscles 3a 17 0.030
556
MCH010 Michels Syndrome 17 0.030
557
c NNN021 Noonan Syndrome 8 17 0.030
558
PCH014 Pachygyria - Epilepsy - Intellectual Disability - Dysmorphism 16 0.030
559
c JVN038 Juvenile Myasthenia Gravis 16 0.030
560
c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 16 0.030
561
c SCH065 Schwartz-Jampel Syndrome 16 0.030
562
c CRN209 Cornelia De Lange Syndrome 5 16 0.030
563
c CNG142 Congenital Fibrosis of the Extraocular Muscles 2 15 0.030
564
MYM006 Moyamoya Disease - Short Stature - Facial Dysmorphism - Hypergonadotropic Hypogonadism 15 0.030
565
INT241 Intellectual Disability, Buenos-Aires Type 15 0.030
566
c CNG144 Congenital Fibrosis of the Extraocular Muscles 3b 15 0.030
567
FTD004 Ftdals2 15 0.030
568
INT250 Intellectual Disability-Obesity-Prognathism-Eye and Skin Anomalies Syndrome 15 0.030
569
PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 15 0.030
570
c MCR228 Microphthalmia, Syndromic 13 15 0.030
571
PRG050 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 3 15 0.030
572
c JBR011 Joubert Syndrome 7 15 0.030
573
VNM002 Van Maldergem Syndrome 2 14 0.030
574
16P007 16p13.3 Microduplication Syndrome 14 0.030
575
c HLP013 Holoprosencephaly-4 14 0.030
576
c WRB005 Warburg Micro Syndrome 4 14 0.030
577
MCR176 Microcephaly - Facio-Cardio-Skeletal Syndrome, Hadziselimovic Type 14 0.030
578
BLP031 Blepharophimosis-Intellectual Disability Syndrome, Verloes Type 13 0.030
579
HYP303 Hypogonadism, Hypergonadotropic 13 0.030
580
PRM135 Paramedian Nasal Cleft 13 0.030
581
P ATS129 Autosomal Dominant Multiple Pterygium Syndrome 13 0.030
582
DYS132 Dysmorphism - Conductive Hearing Loss - Heart Defect 13 0.030
583
MYS036 Myasthenic Syndrome, Congenital, with Pre- and Postsynaptic Defects 12 0.030
584
ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 10 0.030
585
ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 10 0.030
586
MYS018 Myasthenia, Familial Infantile, 1 9 0.030
587
KNG003 Konigsmark Knox Hussels Syndrome 8 0.030
588
CMB052 Combined Oxidative Phosphorylation Deficiency 20 7 0.030
589
RCH004 Richieri Costa Guion Almeida Syndrome 6 0.030