Search results for "ptosis"

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

462 hits were found for 'ptosis'

# Family MCID Name MIFTS Score
1
c BLP002 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 45 4.804
2
c BRT040 Baraitser-Winter Syndrome 34 4.100
3
P BLP012 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 27 3.883
4
c BLP013 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 18 3.518
5
BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 16 3.487
6
DFN004 Deafness Conductive Ptosis Skeletal Anomalies 16 3.475
7
P PTS008 Ptosis, Congenital 22 3.150
8
MCR042 Microbrachycephaly Ptosis Cleft Lip 16 3.116
9
TCK005 Tucker Syndrome 13 3.089
10
PTS007 Ptosis Strabismus Ectopic Pupils 11 3.089
11
c BLP029 Blepharophimosis - Epicanthus Inversus - Ptosis Due to 3q23 Microdeletion 12 3.073
12
c HRD067 Hereditary Congenital Ptosis 7 2.228
13
BLP028 Blepharophimosis-Ptosis-Intellectual Disability Syndrome 15 2.212
14
JRG001 Jorgenson Lenz Syndrome 19 2.194
15
PTS013 Ptosis - Upper Ocular Movement Limitation - Absence of Lacrimal Punctum 10 2.194
16
ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 9 2.194
17
ANR015 Aniridia Ptosis Mental Retardation Obesity Familial 3 2.194
18
OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 3 2.194
19
SPR026 Sparse Hair Ptosis Mental Retardation 3 2.194
20
CNG098 Congenital Heart Disease Ptosis Hypodontia Craniostosis 2 2.194
21
CHR152 Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 1 2.194
22
c BLP021 Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation 10 2.173
23
c BLP019 Blepharophimosis - Epicanthus Inversus - Ptosis Due to Polya Expansion 8 2.173
24
c PTS009 Ptosis, Hereditary Congenital, 1 6 2.173
25
c PTS010 Ptosis, Hereditary Congenital 2 6 2.173
26
VRT006 Vertebral Fusion Posterior Lumbosacral Blepharoptosis 5 2.173
27
ART058 Arthrogryposis Multiple Congenita, Ophthalmoplegia, Ptosis 3 2.173
28
PTS005 Ptosis Coloboma Mental Retardation 3 2.173
29
PTS014 Ptosis - Syndactyly - Learning Difficulties 3 2.173
30
PTS006 Ptosis Strabismus Diastasis 1 2.173
31
MRC002 Marcus Gunn Phenomenon 29 1.619
32
P BRT038 Baraitser-Winter Syndrome 1 40 1.585
33
CRN054 Carnevale Syndrome 13 1.585
34
WLF002 Wolf-Hirschhorn Syndrome 59 1.564
35
BLM001 Bloom Syndrome 74 1.537
36
WND002 Wandering Spleen 28 1.537
37
ISL037 Isolated Anterior Cervical Hypertrichosis 20 1.537
38
SYN049 Synostosis - Microcephaly - Scoliosis 18 1.537
39
HYP182 Hypertrichosis, Anterior Cervical 10 1.537
40
RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 9 1.537
41
JNS005 Jones Hersh Yusk Syndrome 9 1.537
42
TRF002 Treft Sanborn Carey Syndrome 7 1.537
43
TSK001 Tsukahara Azuno Kajii Syndrome 4 1.537
44
MHT001 Mehta Lewis Patton Syndrome 3 1.537
45
MCP019 Mcpherson Robertson Cammarano Syndrome 2 1.537
46
BLP004 Blepharophimosis 37 0.351
47
c OPH004 Ophthalmoplegia 53 0.152
48
MNT147 Mental Retardation 51 0.149
49
P STR020 Strabismus 51 0.115
50
MCR010 Microcephaly 54 0.105
51
CLB001 Coloboma 64 0.100
52
ANR002 Aniridia 65 0.094
53
EYD002 Eye Disease 60 0.094
54
c MSC005 Muscular Dystrophy 62 0.088
55
THR013 Thoracic Outlet Syndrome 52 0.088
56
P SHR002 Short Stature 64 0.082
57
OCL008 Oculopharyngeal Muscular Dystrophy 63 0.082
58
P CHR095 Chronic Progressive External Ophthalmoplegia 55 0.082
59
c SYN001 Syndactyly 50 0.082
60
AMB002 Amblyopia 49 0.082
61
RFR003 Refractive Error 48 0.082
62
P HRN001 Horner's Syndrome 42 0.082
63
c MYP006 Myopia 40 0.082
64
EST005 Esotropia 40 0.082
65
SYN053 Syndromic Diarrhea 32 0.082
66
P PRM019 Premature Ovarian Failure 66 0.074
67
CYS005 Cysticercosis 63 0.074
68
c BRC006 Brachydactyly 55 0.074
69
ECT005 Ectropion 44 0.074
70
P CNJ013 Conjunctivitis 63 0.067
71
LRN003 Learning Disability 62 0.067
72
P HYP080 Hypogonadism 59 0.067
73
P DWR001 Dwarfism 55 0.067
74
PTT004 Pituitary Apoplexy 54 0.067
75
MNN014 Mononeuritis 51 0.067
76
c OPT004 Optic Atrophy 50 0.067
77
P INT063 Intellectual Disability 50 0.067
78
P BLP003 Blepharospasm 47 0.067
79
SCH016 Schimke Immunoosseous Dysplasia 46 0.067
80
NRN002 Neuronitis 43 0.067
81
TTR016 Tetra-Amelia Syndrome 41 0.067
82
FCL012 Facial Paralysis 40 0.067
83
P MYP018 Myopia 6 30 0.067
84
P MYS003 Myasthenia Gravis 78 0.058
85
ACN002 Acanthosis Nigricans 69 0.058
86
c MYP004 Myopathy 62 0.058
87
KRN002 Kearns-Sayre Syndrome 61 0.058
88
SNS001 Sensorineural Hearing Loss 57 0.058
89
P CLF002 Cleft Palate 52 0.058
90
P DST010 Distal Arthrogryposis Type 5 49 0.058
91
GLD002 Goldberg-Shprintzen Megacolon Syndrome 46 0.058
92
LYM029 Lymphedema-Distichiasis Syndrome 44 0.058
93
P ATX010 Ataxia Neuropathy Spectrum 41 0.058
94
HYP265 Hypotonia 41 0.058
95
INF006 Infant Botulism 36 0.058
96
ENT005 Entropion 34 0.058
97
LGP001 Lagophthalmos 31 0.058
98
P AMY001 Amyotrophic Lateral Sclerosis 98 0.047
99
P OBS005 Obesity 89 0.047
100
AND002 Androgen Insensitivity Syndrome 80 0.047
101
P LKM002 Leukemia 77 0.047
102
LSH001 Leishmaniasis 74 0.047
103
c AXN002 Axenfeld-Rieger Syndrome 66 0.047
104
MYC002 Mycobacterium Avium Complex Disease 58 0.047
105
c ATX004 Ataxia 58 0.047
106
c JBR001 Joubert Syndrome 57 0.047
107
c CTR002 Cataract 57 0.047
108
CTN007 Cutaneous Leishmaniasis 55 0.047
109
P EXP004 Exophthalmos 54 0.047
110
c DST002 Distal Arthrogryposis 54 0.047
111
c LYM026 Lymphoblastic Leukemia 54 0.047
112
c SYN005 Synostosis 54 0.047
113
ANH002 Anhidrosis 54 0.047
114
DYS073 Dysphagia 51 0.047
115
KRT008 Keratopathy 50 0.047
116
DBW001 Dubowitz Syndrome 49 0.047
117
MYK002 Myokymia 46 0.047
118
LCK001 Locked-in Syndrome 40 0.047
119
GNT006 Giant Papillary Conjunctivitis 40 0.047
120
EXT022 Exotropia 39 0.047
121
MLT054 Multiple Pterygium Syndrome Escobar Type 38 0.047
122
c DMN027 Dominant Optic Atrophy 37 0.047
123
PPL019 Papillary Conjunctivitis 37 0.047
124
TLS001 Tolosa-Hunt Syndrome 36 0.047
125
IRS007 Iris Hypoplasia 28 0.047
126
BLP001 Blepharochalasis 28 0.047
127
MSM004 Mesomelia-Synostoses Syndrome 27 0.047
128
P SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 26 0.047
129
P DST041 Distal Monosomy 3p 25 0.047
130
c BNG076 Benign Exophthalmos Syndrome 22 0.047
131
AND005 Androgen Insensitivity Syndrome, Mild 21 0.047
132
c ART104 Arthrogryposis, Distal, Type 5d 20 0.047
133
BLP010 Blepharophimosis Intellectual Disability Syndromes 16 0.047
134
SHR076 Short Stature - Intellectual Disability - Eye Anomalies - Cleft Lip/palate 14 0.047
135
P ATX002 Ataxia Telangiectasia 86 0.033
136
INF030 Infectious Mononucleosis 84 0.033
137
P MLT019 Multiple Myeloma 82 0.033
138
P TYS001 Tay-Sachs Disease 82 0.033
139
P SMT004 Smith-Lemli-Opitz Syndrome 82 0.033
140
P LBR001 Leber Congenital Amaurosis 81 0.033
141
c DBT009 Diabetes Mellitus 78 0.033
142
P MTH008 Methylmalonic Acidemia 77 0.033
143
CRZ001 Crouzon Syndrome 77 0.033
144
P STH001 Saethre-Chotzen Syndrome 75 0.033
145
P RBN001 Rubinstein-Taybi Syndrome 75 0.033
146
SKN016 Skin Disease 75 0.033
147
c NNN003 Noonan Syndrome 73 0.033
148
P ALX003 Alexander Disease 73 0.033
149
KWS002 Kawasaki Disease 73 0.033
150
P CRD013 Cardiofaciocutaneous Syndrome 72 0.033
151
P RFS001 Refsum Disease 72 0.033
152
P TMP003 Temporal Arteritis 71 0.033
153
P CHR071 Charcot-Marie-Tooth Disease 70 0.033
154
P PRP001 Propionic Acidemia 70 0.033
155
c HYP086 Hypothyroidism 69 0.033
156
P RTH001 Rothmund-Thomson Syndrome 68 0.033
157
P DGR001 Digeorge Syndrome 67 0.033
158
P THY023 Thymoma 66 0.033
159
P NNN008 Noonan Syndrome 1 66 0.033
160
ERD001 Erdheim-Chester Disease 66 0.033
161
P TRN020 Turner Syndrome 66 0.033
162
P CNG030 Congenital Muscular Dystrophy 65 0.033
163
LGG001 Legg-Calve-Perthes Disease 65 0.033
164
c UVT001 Uveitis 65 0.033
165
PRP030 Purpura 64 0.033
166
LYM017 Lyme Disease 64 0.033
167
c SCL016 Scleroderma 64 0.033
168
P FTL006 Fetal Alcohol Spectrum Disorder 64 0.033
169
ADN018 Adenoma 64 0.033
170
ARS001 Aarskog-Scott Syndrome 63 0.033
171
MNK003 Muenke Syndrome 63 0.033
172
TTN003 Tetanus 63 0.033
173
c EPD003 Epidermolysis Bullosa Simplex 62 0.033
174
P KRT004 Keratitis 62 0.033
175
GNG013 Gingivitis 62 0.033
176
P CRB042 Cerebellar Ataxia 61 0.033
177
CNT009 Central Core Myopathy 61 0.033
178
LDD001 Ladd Syndrome 61 0.033
179
NRP001 Neuropathy 61 0.033
180
c MYL007 Myeloma 61 0.033
181
P PLY019 Polyneuropathy 60 0.033
182
P GLC007 Glaucoma 60 0.033
183
P PRC019 Precocious Puberty 60 0.033
184
SNG010 Single Median Maxillary Central Incisor 60 0.033
185
WGR001 Wagr Syndrome 59 0.033
186
JCB001 Jacobsen Syndrome 59 0.033
187
P MLS001 Melas Syndrome 59 0.033
188
CLF001 Cleft Lip 59 0.033
189
THR004 Thrombocytosis 59 0.033
190
MGC001 Megacolon 59 0.033
191
P CNG046 Congenital Fiber-Type Disproportion 59 0.033
192
NTR001 Neutral Lipid Storage Disease 59 0.033
193
P CNG401 Congenital Heart Disease 58 0.033
194
GLM004 Gliomatosis Cerebri 58 0.033
195
P CFF001 Coffin-Siris Syndrome 58 0.033
196
HDC001 Headache 58 0.033
197
P ADN016 Adenocarcinoma 58 0.033
198
AMN001 Amenorrhea 57 0.033
199
P FNC044 Fanconi Anemia, Complementation Group C 57 0.033
200
PRT039 Proteinuria 57 0.033
201
NRF007 Neurofibroma 57 0.033
202
JCK001 Jackson-Weiss Syndrome 57 0.033
203
PLS011 Plasmacytoma 57 0.033
204
c MCP009 Mucopolysaccharidosis Ii 56 0.033
205
EPD016 Epidermolysis Bullosa 56 0.033
206
ALP008 Alopecia 56 0.033
207
BRJ001 Borjeson-Forssman-Lehmann Syndrome 56 0.033
208
P PLY006 Polydactyly 56 0.033
209
THY089 Thymic Epithelial Neoplasm 56 0.033
210
P KLL001 Kallmann Syndrome 55 0.033
211
c CTS001 Cutis Laxa 55 0.033
212
P JBR004 Joubert Syndrome 2 55 0.033
213
c KBK001 Kabuki Syndrome 55 0.033
214
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 55 0.033
215
TTH006 Tooth Disease 55 0.033
216
c TRM003 Tremor 55 0.033
217
PLY020 Polyradiculoneuropathy 55 0.033
218
P HMN013 Hemangiopericytoma 54 0.033
219
c LPR012 Leopard Syndrome 1 54 0.033
220
PRM013 Premature Menopause 54 0.033
221
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 54 0.033
222
ART001 Arterial Tortuosity Syndrome 54 0.033
223
LMB002 Lambert-Eaton Myasthenic Syndrome 53 0.033
224
CCH002 Coach Syndrome 53 0.033
225
MBS002 Moebius Syndrome 53 0.033
226
c LYM025 Lymphedema 53 0.033
227
P EHL009 Ehlers-Danlos Syndrome Type Iv 53 0.033
228
HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 53 0.033
229
AND003 Andersen-Tawil Syndrome 53 0.033
230
CRN024 Corneal Disease 52 0.033
231
BLN003 Blindness 52 0.033
232
NRF008 Neurofibromatosis-Noonan Syndrome 52 0.033
233
RSD004 Rosai-Dorfman Disease 52 0.033
234
ALL001 Allan-Herndon-Dudley Syndrome 51 0.033
235
c KRT007 Keratoconus 51 0.033
236
DGS001 Degos Disease 51 0.033
237
c ANT034 Anterior Uveitis 51 0.033
238
CLS010 Cluster Headache 50 0.033
239
MTR046 Maternally Inherited Diabetes and Deafness 50 0.033
240
PLX002 Plexiform Neurofibroma 50 0.033
241
KNS001 Kniest Dysplasia 50 0.033
242
CTS002 Cat-Scratch Disease 49 0.033
243
SST001 Sost-Related Sclerosing Bone Dysplasia 49 0.033
244
EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 49 0.033
245
c JBR031 Joubert Syndrome 21 49 0.033
246
c WRD007 Waardenburg Syndrome Type 2a 49 0.033
247
CNV002 Conversion Disorder 49 0.033
248
ALB002 Albinism 49 0.033
249
ECT006 Ectodermal Dysplasia 49 0.033
250
P WRD005 Waardenburg Syndrome Type I 48 0.033
251
HDN002 Head Injury 48 0.033
252
P CRN139 Cornelia De Lange Syndrome 1 47 0.033
253
P OP3001 Opa3-Related 3-Methylglutaconic Aciduria 47 0.033
254
DRY001 Dry Eye Syndrome 47 0.033
255
EPD029 Epidermolysis Bullosa Simplex, Generalized 47 0.033
256
P OVR046 Ovarian Cyst 47 0.033
257
MCP016 Mecp2 Duplication Syndrome 47 0.033
258
CRZ003 Crouzonodermoskeletal Syndrome 47 0.033
259
P ATN005 Autonomic Dysfunction 46 0.033
260
GYN001 Gynecomastia 46 0.033
261
BRN003 Branchiooculofacial Syndrome 46 0.033
262
PRT093 Proteus Syndrome, Somatic 45 0.033
263
RVL002 Ruvalcaba Syndrome 45 0.033
264
DYS018 Dysostosis 45 0.033
265
FRM007 Freeman Sheldon Syndrome 45 0.033
266
APR001 Apraxia 44 0.033
267
FTL007 Fetal Hydantoin Syndrome 44 0.033
268
ANR040 Aneurysm 44 0.033
269
P PRX064 Peroxisome Biogenesis Disorder 2b 44 0.033
270
BRS090 Breast Reconstruction 44 0.033
271
CRT063 Creatine Transporter Deficiency 43 0.033
272
MYT011 Myotonia 43 0.033
273
RDL002 Radioulnar Synostosis 43 0.033
274
c PTR004 Pterygium 43 0.033
275
OCL014 Oculofaciocardiodental Syndrome 43 0.033
276
HMF004 Hemifacial Spasm 43 0.033
277
CRN077 Cranio Osteoarthropathy 42 0.033
278
P EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 42 0.033
279
IRT001 Iritis 42 0.033
280
c HYP087 Hypotrichosis 41 0.033
281
HDR001 Hidrocystoma 41 0.033
282
NGR001 Nager Acrofacial Dysostosis 40 0.033
283
c JBR024 Joubert Syndrome 14 40 0.033
284
IRD001 Iridocyclitis 40 0.033
285
PHL006 Phelan-Mcdermid Syndrome 40 0.033
286
PHM001 Phimosis 40 0.033
287
GST040 Gastric Adenocarcinoma 40 0.033
288
DNR002 Duane-Radial Ray Syndrome 39 0.033
289
XLN011 X-Linked Centronuclear Myopathy 39 0.033
290
CRB045 Cerebellar Hypoplasia 39 0.033
291
WND001 Wound Botulism 39 0.033
292
P DNS004 Duane Syndrome Type 2 39 0.033
293
JBR007 Joubert Syndrome with Renal Anomalies 39 0.033
294
GDS001 Good Syndrome 39 0.033
295
c WRD009 Waardenburg Syndrome Type 3 38 0.033
296
ELP001 Elephantiasis 38 0.033
297
MYH012 Myhre Syndrome 38 0.033
298
P SCH035 Schwartz Jampel Syndrome Type 1 38 0.033
299
c JVN024 Juvenile Hereditary Hemochromatosis 38 0.033
300
SPS003 Spastic Diplegia 37 0.033
301
SPS057 Spasticity 37 0.033
302
22Q001 22q11.2 Duplication 37 0.033
303
P PRR020 Perrault Syndrome 1 36 0.033
304
P RNG004 Ring Chromosome 1 36 0.033
305
PRG031 Progressive Hemifacial Atrophy 36 0.033
306
P KBK002 Kabuki Syndrome 1 36 0.033
307
TRS007 Trismus-Pseudocamptodactyly Syndrome 35 0.033
308
c JBR030 Joubert Syndrome 22 35 0.033
309
MTC061 Mitochondrial Dna Depletion Syndrome 1 35 0.033
310
c PPL025 Popliteal Pterygium Syndrome 35 0.033
311
ADS002 Adie Syndrome 35 0.033
312
c CNG047 Congenital Fibrosis of the Extraocular Muscles 34 0.033
313
INT042 Internuclear Ophthalmoplegia 34 0.033
314
c ACR084 Aicardi-Goutieres Syndrome 7 34 0.033
315
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 33 0.033
316
c MRD002 Marden-Walker Syndrome 33 0.033
317
LTR009 Lateral Meningocele Syndrome 33 0.033
318
HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 32 0.033
319
P CHN018 Chondrodysplasia Punctata 2, X-Linked 32 0.033
320
BRK004 Barakat Syndrome 32 0.033
321
P RBN011 Robinow Syndrome, Autosomal Dominant 32 0.033
322
FCS005 Faces Syndrome 32 0.033
323
ZNC001 Zunich Neuroectodermal Syndrome 31 0.033
324
c CRN035 Cranial Nerve Palsy 31 0.033
325
P ATS061 Autosomal Recessive Hypotrichosis 31 0.033
326
c RBN009 Robinow Syndrome, Autosomal Recessive 31 0.033
327
PRN033 Paraneoplastic Neurologic Disorders 31 0.033
328
P KLN008 Koolen De Vries Syndrome 30 0.033
329
P TTR017 Tetrasomy 12p 30 0.033
330
DLT006 Dilated Cardiomyopathy with Hypergonadotropic Hypogonadism 30 0.033
331
LTH002 Lathosterolosis 30 0.033
332
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 30 0.033
333
CHR101 Char Syndrome 30 0.033
334
CRD019 Cardiocranial Syndrome 30 0.033
335
MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 30 0.033
336
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 29 0.033
337
FRN022 Frontofacionasal Dysplasia 29 0.033
338
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 29 0.033
339
HYP347 Hypotonia-Cystinuria Syndrome 29 0.033
340
P MNS007 Monosomy 18p 28 0.033
341
TFT003 Tufting Enteropathy 28 0.033
342
c CRD132 Cardiac Conduction Defect 28 0.033
343
SYS006 Say Syndrome 28 0.033
344
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 28 0.033
345
MBS001 Mobius Syndrome 28 0.033
346
HNM002 Hinman Syndrome 27 0.033
347
14Q004 14q22q23 Microdeletion Syndrome 26 0.033
348
SYN016 Syndactyly Cenani Lenz Type 26 0.033
349
FDB001 Foodborne Botulism 26 0.033
350
JBR008 Juberg-Hayward Syndrome 26 0.033
351
HYP048 Hypotropia 25 0.033
352
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 25 0.033
353
VRN001 Vernal Conjunctivitis 25 0.033
354
HRT030 Hartsfield Syndrome 25 0.033
355
P INT006 Intestinal Botulism 24 0.033
356
c MSC016 Mosaic Trisomy 14 24 0.033
357
LNR005 Linear Scleroderma 24 0.033
358
2P1002 2p15p16.1 Microdeletion Syndrome 24 0.033
359
BLP030 Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type 23 0.033
360
GGN004 Gigantomastia 23 0.033
361
TLH001 Tel Hashomer Camptodactyly Syndrome 23 0.033
362
c 2Q3005 2q31.1 Microdeletion Syndrome 23 0.033
363
ACR033 Acrofrontofacionasal Dysostosis Syndrome 23 0.033
364
GRM003 German Syndrome 23 0.033
365
ART007 Aorta Atresia 22 0.033
366
c CHR209 Chromosome 17p Duplication 22 0.033
367
TRC007 Tricuspid Valve Prolapse 22 0.033
368
ASC005 Ascher's Syndrome 22 0.033
369
BRC019 Brachycephalofrontonasal Dysplasia 22 0.033
370
PSD045 Pseudoprogeria Syndrome 22 0.033
371
NTV001 Native American Myopathy 22 0.033
372
SCR025 Scarf Syndrome 22 0.033
373
EXP002 Exposure Keratitis 21 0.033
374
MCD002 Mcdonough Syndrome 21 0.033
375
3PD001 3p Deletion Syndrome 21 0.033
376
WCK003 Wieacker-Wolf Syndrome 21 0.033
377
CNT070 Centronuclear Myopathy, Autosomal, Modifier of 21 0.033
378
CRN190 Craniosynostosis - Fibular Aplasia 20 0.033
379
c 8Q2001 8q21.11 Microdeletion Syndrome 20 0.033
380
CDS002 Codas Syndrome 20 0.033
381
c 4Q2001 4q21 Microdeletion Syndrome 20 0.033
382
CNG118 Congenital Nonprogressive Myopathy with Moebius and Robin Sequences 20 0.033
383
HYP474 Hypertrichosis Cubiti - Short Stature 20 0.033
384
FML093 Familial Visceral Myopathy with External Ophthalmoplegia 19 0.033
385
NRF010 Neurofaciodigitorenal Syndrome 19 0.033
386
MTC059 Mitochondrial Dna Depletion Syndrome 5 19 0.033
387
c CNG333 Congenital Horner Syndrome 19 0.033
388
DRM023 Dermoodontodysplasia 19 0.033
389
XLN073 X-Linked Mandibulofacial Dysostosis 19 0.033
390
NSD003 Nasodigitoacoustic Syndrome 19 0.033
391
OCL003 Oculomotor Nerve Paralysis 19 0.033
392
TBS002 Teebi Shaltout Syndrome 19 0.033
393
KPL001 Kaplan Plauchu Fitch Syndrome 18 0.033
394
BRD023 Bird Headed Dwarfism Montreal Type 18 0.033
395
c CHR252 Chromosome 5p Duplication 18 0.033
396
MNS009 Monosomy 13q14 18 0.033
397
MSC027 Muscular Dystrophy, Congenital, Infantile with Cataract and Hypogonadism 18 0.033
398
MCR047 Microcephaly Cervical Spine Fusion Anomalies 18 0.033
399
RZN001 Rozin Hertz Goodman Syndrome 17 0.033
400
MCR170 Microcephaly - Cleft Palate 17 0.033
401
P DST036 Distal Trisomy 15q 17 0.033
402
CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 17 0.033
403
c DST045 Distal Trisomy 6p 17 0.033
404
SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 17 0.033
405
ANR012 Aniridia Absent Patella 17 0.033
406
MCH010 Michels Syndrome 16 0.033
407
PLY046 Polysyndactyly Cardiac Malformation 16 0.033
408
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 16 0.033
409
NGB001 Naguib-Richieri-Costa Syndrome 16 0.033
410
MTC065 Mitochondrial Dna Depletion Syndrome 8a 16 0.033
411
ITR001 Iatrogenic Botulism 16 0.033
412
OTP003 Oto-Palatal-Digital Syndrome 16 0.033
413
SPN113 Spinocerebellar Ataxia with Dysmorphism 15 0.033
414
SVR009 Seaver Cassidy Syndrome 15 0.033
415
c SCH065 Schwartz–jampel Syndrome 15 0.033
416
EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 15 0.033
417
BLP014 Blepharoptosis Myopia Ectopia Lentis 15 0.033
418
HPT076 Hepatic Fibrosis - Renal Cysts - Intellectual Disability 15 0.033
419
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 15 0.033
420
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 14 0.033
421
DLY006 Delayed Speech - Facial Asymmetry - Strabismus - Ear Lobe Creases 14 0.033
422
INH013 Inhalational Botulism 14 0.033
423
CRB131 Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss 14 0.033
424
PRM135 Paramedian Nasal Cleft 14 0.033
425
RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 14 0.033
426
DYS131 Dysmorphism - Short Stature - Deafness - Disorder of Sex Development 14 0.033
427
c ADL069 Adult Intestinal Botulism 14 0.033
428
CRB129 Cerebro-Reno-Digital Syndrome 14 0.033
429
PTR025 Pterygium Colli - Intellectual Disability - Digital Anomalies 14 0.033
430
DFN225 Deafness - Small Bowel Diverticulosis - Neuropathy 14 0.033
431
c PPL028 Popliteal Pterygium Syndrome Lethal Type 13 0.033
432
INT242 Intellectual Disability - Myopathy - Short Stature - Endocrine Defect 13 0.033
433
XLN125 X-Linked Intellectual Disability - Dysmorphism - Cerebral Atrophy 13 0.033
434
FLL046 Fallot Complex - Intellectual Disability - Growth Delay 13 0.033
435
CTR089 Cataract - Aberrant Oral Frenula - Growth Delay 13 0.033
436
KZL001 Kozlowski Brown Hardwick Syndrome 13 0.033
437
PLY088 Polyvalvular Heart Disease Syndrome 13 0.033
438
P ART039 Arthrogryposis Due to Muscular Dystrophy 13 0.033
439
PRP081 Paraplegia - Intellectual Disability - Hyperkeratosis 13 0.033
440
PST075 Posterior Fusion of Lumbosacral Vertebrae - Blepharoptosis 13 0.033
441
VSC038 Visceral Neuropathy - Brain Anomalies - Facial Dysmorphism - Developmental Delay 13 0.033
442
OPH010 Ophthalmoplegia - Intellectual Disability - Lingua Scrotalis 12 0.033
443
EYB003 Eyebrow Duplication - Syndactyly 12 0.033
444
HYP303 Hypogonadism, Hypergonadotropic 12 0.033
445
SHR053 Short Stature - Valvular Heart Disease - Characteristic Facies 12 0.033
446
MCR174 Macrocephaly - Short Stature - Paraplegia 12 0.033
447
TRG014 Trigonocephaly - Broad Thumbs 12 0.033
448
NGH011 Night Blindness - Skeletal Anomalies - Dysmorphism 11 0.033
449
TMB001 Tome Brunet Fardeau Syndrome 11 0.033
450
PRP070 Peripheral Precocious Puberty 11 0.033
451
INT236 Intellectual Disability - Unusual Facies 11 0.033
452
INT235 Intellectual Disability-Unusual Facies, Davis-Lafer Type 11 0.033
453
NND004 Non-Distal Monosomy 10q 11 0.033
454
ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 9 0.033
455
ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 9 0.033
456
TRC089 Trichodermal Syndrome - Intellectual Disability 8 0.033
457
BLP023 Blepharoptosis - Cleft Palate - Ectrodactyly - Dental Anomalies 8 0.033
458
KNG003 Konigsmark Knox Hussels Syndrome 8 0.033
459
PRP069 Purpura Simplex 8 0.033
460
MCR196 Macrostomia - Preauricular Tags - External Ophthalmoplegia 7 0.033
461
RCH004 Richieri Costa Guion Almeida Syndrome 5 0.033
462
OPH009 Ophthalmoplegia - Myalgia - Tubular Aggregates 4 0.033