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

477 hits were found for 'ptosis'

# Family MCID Name MIFTS Score
1
c BLP002 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 40 4.906
2
P BLP012 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 32 4.019
3
c BLP013 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 18 3.533
4
BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 16 3.460
5
DFN004 Deafness Conductive Ptosis Skeletal Anomalies 16 3.449
6
PTS008 Ptosis, Congenital 21 3.226
7
c BRT040 Baraitser-Winter Syndrome 26 3.092
8
MCR042 Microbrachycephaly Ptosis Cleft Lip 16 3.092
9
TCK005 Tucker Syndrome 13 3.065
10
PTS007 Ptosis Strabismus Ectopic Pupils 11 3.065
11
c BLP029 Blepharophimosis - Epicanthus Inversus - Ptosis Due to 3q23 Microdeletion 11 3.050
12
TRG009 Trigonocephaly Ptosis Mental Retardation 3 2.674
13
c HRD067 Hereditary Congenital Ptosis 2 2.210
14
JRG001 Jorgenson Lenz Syndrome 18 2.177
15
BLP028 Blepharophimosis-Ptosis-Intellectual Disability Syndrome 15 2.177
16
PTS013 Ptosis - Upper Ocular Movement Limitation - Absence of Lacrimal Punctum 10 2.177
17
ANR036 Aniridia - Ptosis - Intellectual Deficit - Familial Obesity 10 2.177
18
ANR015 Aniridia Ptosis Mental Retardation Obesity Familial 3 2.177
19
OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 2 2.177
20
CNG098 Congenital Heart Disease Ptosis Hypodontia Craniostosis 1 2.177
21
SPR026 Sparse Hair Ptosis Mental Retardation 1 2.177
22
CHR152 Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 0 2.177
23
c BLP021 Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation 9 2.157
24
c BLP019 Blepharophimosis - Epicanthus Inversus - Ptosis Due to Polya Expansion 7 2.157
25
ART058 Arthrogryposis Multiple Congenita, Ophthalmoplegia, Ptosis 4 2.157
26
VRT006 Vertebral Fusion Posterior Lumbosacral Blepharoptosis 4 2.157
27
c PTS009 Ptosis, Hereditary Congenital, 1 3 2.157
28
P PTS010 Ptosis, Hereditary Congenital 2 3 2.157
29
PTS014 Ptosis - Syndactyly - Learning Difficulties 3 2.157
30
PTS005 Ptosis Coloboma Mental Retardation 1 2.157
31
PTS006 Ptosis Strabismus Diastasis 0 2.157
32
BLM001 Bloom Syndrome 82 1.590
33
P BRT038 Baraitser-Winter Syndrome 1 40 1.573
34
WLF002 Wolf-Hirschhorn Syndrome 60 1.552
35
MRC002 Marcus Gunn Phenomenon 22 1.552
36
CRN054 Carnevale Syndrome 10 1.552
37
ISL037 Isolated Anterior Cervical Hypertrichosis 20 1.525
38
SYN049 Synostosis - Microcephaly - Scoliosis 18 1.525
39
WND002 Wandering Spleen 15 1.525
40
HYP182 Hypertrichosis, Anterior Cervical 10 1.525
41
JNS005 Jones Hersh Yusk Syndrome 8 1.525
42
RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 8 1.525
43
TRF002 Treft Sanborn Carey Syndrome 6 1.525
44
TSK001 Tsukahara Azuno Kajii Syndrome 5 1.525
45
MHT001 Mehta Lewis Patton Syndrome 2 1.525
46
MCP019 Mcpherson Robertson Cammarano Syndrome 1 1.525
47
BLP004 Blepharophimosis 41 0.348
48
c XP2001 Xp22.3 Microdeletion Syndrome 21 0.249
49
P MYP018 Myopia 6 29 0.227
50
SHR054 Short Stature - Intellectual Deficit - Eye Anomalies - Cleft Lip/palate 15 0.160
51
c OPH004 Ophthalmoplegia 52 0.150
52
c PPL025 Popliteal Pterygium Syndrome 24 0.146
53
ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 9 0.143
54
THR013 Thoracic Outlet Syndrome 54 0.139
55
P PRM019 Premature Ovarian Failure 65 0.135
56
CLB001 Coloboma 63 0.113
57
P STR020 Strabismus 56 0.113
58
MNN014 Mononeuritis 48 0.113
59
MCR010 Microcephaly 53 0.109
60
PRM135 Paramedian Nasal Cleft 14 0.109
61
c SYN001 Syndactyly 52 0.104
62
P CRD132 Cardiac Conduction Defect 27 0.104
63
ART087 Arthrogryposis with Oculomotor Limitation and Electroretinal Anomalies 24 0.104
64
P DST010 Distal Arthrogryposis Type 5 42 0.098
65
CLB009 Coloboma of Iris 17 0.098
66
P ATX002 Ataxia Telangiectasia 93 0.093
67
ACN002 Acanthosis Nigricans 73 0.093
68
ANR002 Aniridia 71 0.093
69
PSY004 Psychotic Disorder 69 0.093
70
SCN006 Secondary Syphilis 55 0.093
71
c MSC005 Muscular Dystrophy 62 0.087
72
OCL008 Oculopharyngeal Muscular Dystrophy 61 0.087
73
RFR003 Refractive Error 53 0.087
74
ALB002 Albinism 50 0.087
75
P CHR095 Chronic Progressive External Ophthalmoplegia 50 0.087
76
P PPL047 Popliteal Pterygium Syndrome 2, Lethal Type 26 0.087
77
HYP303 Hypogonadism, Hypergonadotropic 12 0.087
78
AMB002 Amblyopia 46 0.080
79
c MYP006 Myopia 41 0.080
80
P HRN001 Horner's Syndrome 40 0.080
81
EST005 Esotropia 36 0.080
82
MNT147 Mental Retardation 35 0.080
83
ORB013 Orbital Disease 32 0.080
84
P SPC023 Specific Language Impairment 5 14 0.080
85
RCH004 Richieri Costa Guion Almeida Syndrome 3 0.080
86
ANK002 Ankylosing Spondylitis 75 0.073
87
CYS005 Cysticercosis 64 0.073
88
WST001 West Syndrome 64 0.073
89
P OVR049 Ovarian Disease 63 0.073
90
P HYP080 Hypogonadism 60 0.073
91
P DWR001 Dwarfism 58 0.073
92
c BRC006 Brachydactyly 48 0.073
93
c OPT004 Optic Atrophy 46 0.073
94
ECT005 Ectropion 45 0.073
95
P BLP003 Blepharospasm 45 0.073
96
SYN053 Syndromic Diarrhea 42 0.073
97
TFT003 Tufting Enteropathy 21 0.073
98
P MYS003 Myasthenia Gravis 79 0.065
99
NRN002 Neuronitis 64 0.065
100
P CNJ013 Conjunctivitis 61 0.065
101
LRN003 Learning Disability 58 0.065
102
MYC002 Mycobacterium Avium Complex Disease 57 0.065
103
P THR090 Thrombocythemia 1 54 0.065
104
PTT004 Pituitary Apoplexy 51 0.065
105
SCH016 Schimke Immunoosseous Dysplasia 49 0.065
106
FCL012 Facial Paralysis 49 0.065
107
LYM029 Lymphedema-Distichiasis Syndrome 44 0.065
108
P ATX010 Ataxia Neuropathy Spectrum 44 0.065
109
TTR016 Tetra-Amelia Syndrome 43 0.065
110
HNM002 Hinman Syndrome 24 0.065
111
c AXN002 Axenfeld-Rieger Syndrome 60 0.057
112
P CLF002 Cleft Palate 59 0.057
113
P MYP004 Myopathy 58 0.057
114
SNS001 Sensorineural Hearing Loss 56 0.057
115
P DND001 Dandy-Walker Syndrome 56 0.057
116
c CTR002 Cataract 53 0.057
117
P INT063 Intellectual Disability 51 0.057
118
c SYN005 Synostosis 51 0.057
119
GLD002 Goldberg-Shprintzen Megacolon Syndrome 42 0.057
120
MLT054 Multiple Pterygium Syndrome Escobar Type 38 0.057
121
INF006 Infant Botulism 38 0.057
122
SPS003 Spastic Diplegia 36 0.057
123
P JVN024 Juvenile Hereditary Hemochromatosis 35 0.057
124
ENT005 Entropion 34 0.057
125
LGP001 Lagophthalmos 31 0.057
126
PRN033 Paraneoplastic Neurologic Disorders 23 0.057
127
c MNS010 Monosomy Xp21 20 0.057
128
c PPL028 Popliteal Pterygium Syndrome Lethal Type 14 0.057
129
P AMY001 Amyotrophic Lateral Sclerosis 100 0.046
130
P OBS005 Obesity 93 0.046
131
AND002 Androgen Insensitivity Syndrome 88 0.046
132
P LKM002 Leukemia 79 0.046
133
LSH001 Leishmaniasis 74 0.046
134
P PRP001 Propionic Acidemia 69 0.046
135
c ACT073 Acute Leukemia 62 0.046
136
ART001 Arterial Tortuosity Syndrome 62 0.046
137
LGG001 Legg-Calve-Perthes Disease 61 0.046
138
P CNG046 Congenital Fiber-Type Disproportion 61 0.046
139
P HLP001 Holoprosencephaly 61 0.046
140
KRN002 Kearns-Sayre Syndrome 59 0.046
141
CTN007 Cutaneous Leishmaniasis 58 0.046
142
P SHR002 Short Stature 57 0.046
143
P LYM026 Lymphoblastic Leukemia 56 0.046
144
c DST002 Distal Arthrogryposis 55 0.046
145
LPC002 Lip Cancer 55 0.046
146
APR001 Apraxia 53 0.046
147
KRT008 Keratopathy 52 0.046
148
ANH002 Anhidrosis 52 0.046
149
P EXP004 Exophthalmos 51 0.046
150
c JBR001 Joubert Syndrome 51 0.046
151
DBW001 Dubowitz Syndrome 51 0.046
152
P PRC019 Precocious Puberty 50 0.046
153
P OVR046 Ovarian Cyst 50 0.046
154
P OP3001 Opa3-Related 3-Methylglutaconic Aciduria 47 0.046
155
AND003 Andersen-Tawil Syndrome 43 0.046
156
RDL002 Radioulnar Synostosis 41 0.046
157
EXT022 Exotropia 40 0.046
158
LCK001 Locked-in Syndrome 39 0.046
159
GNT006 Giant Papillary Conjunctivitis 37 0.046
160
PPL019 Papillary Conjunctivitis 35 0.046
161
TLS001 Tolosa-Hunt Syndrome 35 0.046
162
MSM004 Mesomelia-Synostoses Syndrome 32 0.046
163
P DST041 Distal Monosomy 3p 31 0.046
164
MBS001 Mobius Syndrome 30 0.046
165
P SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 29 0.046
166
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 28 0.046
167
c CNG047 Congenital Fibrosis of the Extraocular Muscles 27 0.046
168
BLP001 Blepharochalasis 26 0.046
169
TRC007 Tricuspid Valve Prolapse 25 0.046
170
c BNG076 Benign Exophthalmos Syndrome 21 0.046
171
c ART104 Arthrogryposis, Distal, Type 5d 20 0.046
172
AND005 Androgen Insensitivity Syndrome, Mild 18 0.046
173
P MLT019 Multiple Myeloma 89 0.033
174
P SMT004 Smith-Lemli-Opitz Syndrome 84 0.033
175
P RFS001 Refsum Disease 83 0.033
176
P LBR001 Leber Congenital Amaurosis 83 0.033
177
P TYS001 Tay-Sachs Disease 82 0.033
178
c DBT009 Diabetes Mellitus 80 0.033
179
P MTH008 Methylmalonic Acidemia 79 0.033
180
CRZ001 Crouzon Syndrome 79 0.033
181
P RBN001 Rubinstein-Taybi Syndrome 78 0.033
182
INF030 Infectious Mononucleosis 78 0.033
183
c NNN003 Noonan Syndrome 77 0.033
184
P TRN020 Turner Syndrome 77 0.033
185
P STH001 Saethre-Chotzen Syndrome 75 0.033
186
P CRD013 Cardiofaciocutaneous Syndrome 74 0.033
187
KWS002 Kawasaki Disease 74 0.033
188
P ALX003 Alexander Disease 74 0.033
189
P CNG026 Congenital Heart Defect 73 0.033
190
P CNG030 Congenital Muscular Dystrophy 72 0.033
191
CNT009 Central Core Myopathy 70 0.033
192
P ANG001 Angelman Syndrome 70 0.033
193
P TMP003 Temporal Arteritis 69 0.033
194
c CHR071 Charcot-Marie-Tooth Disease 69 0.033
195
P NNN008 Noonan Syndrome 1 69 0.033
196
c MCP009 Mucopolysaccharidosis Ii 68 0.033
197
ART019 Aortic Valve Stenosis 68 0.033
198
c HYP086 Hypothyroidism 68 0.033
199
P RTH001 Rothmund-Thomson Syndrome 67 0.033
200
LYM017 Lyme Disease 67 0.033
201
P UVT001 Uveitis 67 0.033
202
PRP030 Purpura 67 0.033
203
ADN018 Adenoma 67 0.033
204
P DGR001 Digeorge Syndrome 67 0.033
205
GNG013 Gingivitis 67 0.033
206
P THY023 Thymoma 66 0.033
207
CRB042 Cerebellar Ataxia 66 0.033
208
KRT004 Keratitis 66 0.033
209
LDD001 Ladd Syndrome 66 0.033
210
ARS001 Aarskog-Scott Syndrome 65 0.033
211
ERD001 Erdheim-Chester Disease 64 0.033
212
P PLY019 Polyneuropathy 64 0.033
213
PTT006 Pituitary Adenoma 64 0.033
214
TTN003 Tetanus 63 0.033
215
PLS011 Plasmacytoma 63 0.033
216
c EPD003 Epidermolysis Bullosa Simplex 63 0.033
217
AMN001 Amenorrhea 63 0.033
218
P CTS001 Cutis Laxa 63 0.033
219
THR004 Thrombocytosis 63 0.033
220
SMT015 Smith Magenis Syndrome 62 0.033
221
DWN001 Down Syndrome 62 0.033
222
P MLS001 Melas Syndrome 61 0.033
223
P KLL001 Kallmann Syndrome 61 0.033
224
NRP001 Neuropathy 61 0.033
225
MNK003 Muenke Syndrome 61 0.033
226
c CCK001 Cockayne Syndrome 61 0.033
227
NRF007 Neurofibroma 60 0.033
228
ALP008 Alopecia 60 0.033
229
P ADN016 Adenocarcinoma 60 0.033
230
BRJ001 Borjeson-Forssman-Lehmann Syndrome 59 0.033
231
EPD016 Epidermolysis Bullosa 59 0.033
232
c MYL007 Myeloma 59 0.033
233
CLF001 Cleft Lip 59 0.033
234
c SCL016 Scleroderma 59 0.033
235
NTR001 Neutral Lipid Storage Disease 59 0.033
236
P FTL006 Fetal Alcohol Spectrum Disorder 58 0.033
237
P HMN013 Hemangiopericytoma 58 0.033
238
JCK001 Jackson-Weiss Syndrome 58 0.033
239
P GLC007 Glaucoma 58 0.033
240
SNG010 Single Median Maxillary Central Incisor 57 0.033
241
SST001 Sost-Related Sclerosing Bone Dysplasia 57 0.033
242
PRT039 Proteinuria 57 0.033
243
GYN001 Gynecomastia 57 0.033
244
MGC001 Megacolon 56 0.033
245
P LYM025 Lymphedema 56 0.033
246
ALL001 Allan-Herndon-Dudley Syndrome 56 0.033
247
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 56 0.033
248
GLM004 Gliomatosis Cerebri 56 0.033
249
WGR001 Wagr Syndrome 56 0.033
250
TTH006 Tooth Disease 55 0.033
251
P PLY006 Polydactyly 54 0.033
252
P CFF001 Coffin-Siris Syndrome 54 0.033
253
LMB002 Lambert-Eaton Myasthenic Syndrome 54 0.033
254
KNS001 Kniest Dysplasia 53 0.033
255
ADL002 Adult Syndrome 52 0.033
256
HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 52 0.033
257
P FNC044 Fanconi Anemia, Complementation Group C 52 0.033
258
EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 52 0.033
259
PLY020 Polyradiculoneuropathy 52 0.033
260
CRN024 Corneal Disease 52 0.033
261
P LPR012 Leopard Syndrome 1 52 0.033
262
THY089 Thymic Epithelial Neoplasm 52 0.033
263
P JBR004 Joubert Syndrome 2 52 0.033
264
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 51 0.033
265
CTS002 Cat-Scratch Disease 51 0.033
266
PRM013 Premature Menopause 51 0.033
267
P EHL009 Ehlers-Danlos Syndrome Type Iv 51 0.033
268
c KRT007 Keratoconus 50 0.033
269
BRN003 Branchiooculofacial Syndrome 50 0.033
270
CNV002 Conversion Disorder 50 0.033
271
DRY001 Dry Eye Syndrome 49 0.033
272
DYS018 Dysostosis 49 0.033
273
CRT063 Creatine Transporter Deficiency 48 0.033
274
JCB001 Jacobsen Syndrome 48 0.033
275
CCH002 Coach Syndrome 48 0.033
276
c WRD007 Waardenburg Syndrome Type 2a 48 0.033
277
c KBK001 Kabuki Syndrome 48 0.033
278
GST040 Gastric Adenocarcinoma 48 0.033
279
P CRN139 Cornelia De Lange Syndrome 1 47 0.033
280
EPD029 Epidermolysis Bullosa Simplex, Generalized 47 0.033
281
CRZ003 Crouzonodermoskeletal Syndrome 46 0.033
282
DNR002 Duane-Radial Ray Syndrome 46 0.033
283
P EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 46 0.033
284
PLX002 Plexiform Neurofibroma 46 0.033
285
MCP016 Mecp2 Duplication Syndrome 45 0.033
286
P PRX064 Peroxisome Biogenesis Disorder 2b 45 0.033
287
MTR046 Maternally Inherited Diabetes and Deafness 45 0.033
288
PRT093 Proteus Syndrome, Somatic 44 0.033
289
c JBR026 Joubert Syndrome 15 43 0.033
290
GDS001 Good Syndrome 43 0.033
291
c HYP087 Hypotrichosis 43 0.033
292
P WRD005 Waardenburg Syndrome Type I 43 0.033
293
DBT007 Diabetic Cataract 42 0.033
294
P MBS002 Moebius Syndrome 42 0.033
295
PHL006 Phelan-Mcdermid Syndrome 42 0.033
296
BRS090 Breast Reconstruction 42 0.033
297
FRM007 Freeman Sheldon Syndrome 42 0.033
298
P ACR054 Aicardi-Goutieres Syndrome Type 5 41 0.033
299
22Q001 22q11.2 Duplication 41 0.033
300
c CRN035 Cranial Nerve Palsy 41 0.033
301
P DNS004 Duane Syndrome Type 2 41 0.033
302
RVL002 Ruvalcaba Syndrome 41 0.033
303
IRT001 Iritis 41 0.033
304
WND001 Wound Botulism 40 0.033
305
P RBN011 Robinow Syndrome, Autosomal Dominant 40 0.033
306
c PTR004 Pterygium 40 0.033
307
OCL014 Oculofaciocardiodental Syndrome 40 0.033
308
JBR007 Joubert Syndrome with Renal Anomalies 40 0.033
309
CRN077 Cranio Osteoarthropathy 39 0.033
310
DGS001 Degos Disease 39 0.033
311
XLN011 X-Linked Centronuclear Myopathy 39 0.033
312
IRD001 Iridocyclitis 39 0.033
313
HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 38 0.033
314
c WRD009 Waardenburg Syndrome Type 3 38 0.033
315
SCH035 Schwartz Jampel Syndrome Type 1 38 0.033
316
SPC005 Speech Disorder 38 0.033
317
HDR001 Hidrocystoma 37 0.033
318
P KBK002 Kabuki Syndrome 1 37 0.033
319
c JBR024 Joubert Syndrome 14 37 0.033
320
PHM001 Phimosis 36 0.033
321
P PRR020 Perrault Syndrome 1 36 0.033
322
ELP001 Elephantiasis 36 0.033
323
FTL007 Fetal Hydantoin Syndrome 36 0.033
324
c JBR016 Joubert Syndrome 10 36 0.033
325
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 36 0.033
326
MTC061 Mitochondrial Dna Depletion Syndrome 1 35 0.033
327
P CHN018 Chondrodysplasia Punctata 2, X-Linked 34 0.033
328
c RBN009 Robinow Syndrome, Autosomal Recessive 34 0.033
329
IMG001 Image Syndrome 34 0.033
330
NGR001 Nager Acrofacial Dysostosis 34 0.033
331
CHR101 Char Syndrome 34 0.033
332
MYH012 Myhre Syndrome 33 0.033
333
ADS002 Adie Syndrome 33 0.033
334
TRS007 Trismus-Pseudocamptodactyly Syndrome 32 0.033
335
ZNC001 Zunich Neuroectodermal Syndrome 32 0.033
336
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 31 0.033
337
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 31 0.033
338
HYP265 Hypotonia 30 0.033
339
BRK004 Barakat Syndrome 30 0.033
340
DLT006 Dilated Cardiomyopathy with Hypergonadotropic Hypogonadism 30 0.033
341
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 30 0.033
342
P RNG004 Ring Chromosome 1 29 0.033
343
INT042 Internuclear Ophthalmoplegia 29 0.033
344
P KLN006 Koolen-De Vries Syndrome 29 0.033
345
SPS057 Spasticity 29 0.033
346
FCS005 Faces Syndrome 29 0.033
347
LTR009 Lateral Meningocele Syndrome 29 0.033
348
DYS036 Dysequilibrium Syndrome 28 0.033
349
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 28 0.033
350
P INT006 Intestinal Botulism 28 0.033
351
LTH002 Lathosterolosis 28 0.033
352
PRG031 Progressive Hemifacial Atrophy 27 0.033
353
CRD019 Cardiocranial Syndrome 27 0.033
354
ART007 Aorta Atresia 27 0.033
355
SYN016 Syndactyly Cenani Lenz Type 27 0.033
356
P ATS061 Autosomal Recessive Hypotrichosis 26 0.033
357
WTS001 Watson Syndrome 26 0.033
358
MNS009 Monosomy 13q14 26 0.033
359
c 2Q3005 2q31.1 Microdeletion Syndrome 26 0.033
360
FRN022 Frontofacionasal Dysplasia 26 0.033
361
HYP048 Hypotropia 25 0.033
362
HYP347 Hypotonia-Cystinuria Syndrome 25 0.033
363
c MRD002 Marden-Walker Syndrome 25 0.033
364
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 24 0.033
365
c CHR209 Chromosome 17p Duplication 24 0.033
366
EXP002 Exposure Keratitis 24 0.033
367
FDB001 Foodborne Botulism 24 0.033
368
VRN001 Vernal Conjunctivitis 24 0.033
369
c 4Q2001 4q21 Microdeletion Syndrome 23 0.033
370
HYP264 Hypertonia 23 0.033
371
PSD045 Pseudoprogeria Syndrome 23 0.033
372
WCK003 Wieacker-Wolf Syndrome 22 0.033
373
BLP018 Blepharophimosis-Intellectual Deficit Syndrome, Ohdo Type 22 0.033
374
GRM003 German Syndrome 22 0.033
375
BRC019 Brachycephalofrontonasal Dysplasia 22 0.033
376
MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 21 0.033
377
MTC059 Mitochondrial Dna Depletion Syndrome 5 21 0.033
378
ACR033 Acrofrontofacionasal Dysostosis Syndrome 21 0.033
379
P MNS007 Monosomy 18p 21 0.033
380
IRS007 Iris Hypoplasia 21 0.033
381
CRN190 Craniosynostosis - Fibular Aplasia 21 0.033
382
P TTR017 Tetrasomy 12p 21 0.033
383
2P1002 2p15p16.1 Microdeletion Syndrome 21 0.033
384
JBR008 Juberg-Hayward Syndrome 21 0.033
385
FNT003 Fountain Syndrome 20 0.033
386
SYS006 Say Syndrome 20 0.033
387
HRT030 Hartsfield Syndrome 20 0.033
388
XLN073 X-Linked Mandibulofacial Dysostosis 19 0.033
389
JWW001 Jaw-Winking Syndrome 19 0.033
390
SCR025 Scarf Syndrome 19 0.033
391
NRF010 Neurofaciodigitorenal Syndrome 19 0.033
392
PCH008 Pachygyria - Epilepsy - Intellectual Deficit - Dysmorphism 19 0.033
393
ANR012 Aniridia Absent Patella 19 0.033
394
MTC065 Mitochondrial Dna Depletion Syndrome 8a 19 0.033
395
c 8Q2001 8q21.11 Microdeletion Syndrome 19 0.033
396
FML093 Familial Visceral Myopathy with External Ophthalmoplegia 18 0.033
397
MCD002 Mcdonough Syndrome 18 0.033
398
P DST036 Distal Trisomy 15q 18 0.033
399
BRD023 Bird Headed Dwarfism Montreal Type 18 0.033
400
HYP474 Hypertrichosis Cubiti - Short Stature 18 0.033
401
NTV001 Native American Myopathy 18 0.033
402
OCL003 Oculomotor Nerve Paralysis 18 0.033
403
CNG118 Congenital Nonprogressive Myopathy with Moebius and Robin Sequences 18 0.033
404
MCR047 Microcephaly Cervical Spine Fusion Anomalies 18 0.033
405
CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 17 0.033
406
TLH001 Tel Hashomer Camptodactyly Syndrome 17 0.033
407
c MSC016 Mosaic Trisomy 14 17 0.033
408
INT177 Intellectual Deficit, X-Linked - Dysmorphism - Cerebral Atrophy 17 0.033
409
NGB001 Naguib-Richieri-Costa Syndrome 17 0.033
410
PLY046 Polysyndactyly Cardiac Malformation 17 0.033
411
KPL001 Kaplan Plauchu Fitch Syndrome 16 0.033
412
NSD003 Nasodigitoacoustic Syndrome 16 0.033
413
ASC005 Ascher's Syndrome 16 0.033
414
SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 16 0.033
415
c CHR250 Chromosome 4q Duplication 16 0.033
416
TBS002 Teebi Shaltout Syndrome 16 0.033
417
MSC027 Muscular Dystrophy, Congenital, Infantile with Cataract and Hypogonadism 16 0.033
418
PLY088 Polyvalvular Heart Disease Syndrome 16 0.033
419
CDS002 Codas Syndrome 16 0.033
420
RZN001 Rozin Hertz Goodman Syndrome 16 0.033
421
c CHR252 Chromosome 5p Duplication 16 0.033
422
PTR017 Pterygium Colli - Intellectual Deficit - Digital Anomalies 16 0.033
423
GRW019 Growth Deficiency - Brachydactyly - Dysmorphism 16 0.033
424
HPT065 Hepatic Fibrosis - Renal Cysts - Intellectual Deficit 16 0.033
425
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 15 0.033
426
SVR009 Seaver Cassidy Syndrome 15 0.033
427
DRM023 Dermoodontodysplasia 15 0.033
428
EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 15 0.033
429
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 15 0.033
430
BLP014 Blepharoptosis Myopia Ectopia Lentis 15 0.033
431
DLY006 Delayed Speech - Facial Asymmetry - Strabismus - Ear Lobe Creases 15 0.033
432
RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 15 0.033
433
c DST045 Distal Trisomy 6p 15 0.033
434
SPN113 Spinocerebellar Ataxia with Dysmorphism 14 0.033
435
DYS131 Dysmorphism - Short Stature - Deafness - Disorder of Sex Development 14 0.033
436
P ISC010 Isochromosome Yp 14 0.033
437
DFN225 Deafness - Small Bowel Diverticulosis - Neuropathy 14 0.033
438
MRL004 Morillo-Cucci-Passarge Syndrome 14 0.033
439
c ADL069 Adult Intestinal Botulism 14 0.033
440
c CNG333 Congenital Horner Syndrome 14 0.033
441
FLL044 Fallot Complex - Intellectual Deficit - Growth Delay 13 0.033
442
CTR089 Cataract - Aberrant Oral Frenula - Growth Delay 13 0.033
443
CNT070 Centronuclear Myopathy, Autosomal, Modifier of 13 0.033
444
OTP003 Oto-Palatal-Digital Syndrome 13 0.033
445
INT174 Intellectual Deficit - Myopathy - Short Stature - Endocrine Defect 13 0.033
446
INH013 Inhalational Botulism 13 0.033
447
VSC038 Visceral Neuropathy - Brain Anomalies - Facial Dysmorphism - Developmental Delay 13 0.033
448
CRB129 Cerebro-Reno-Digital Syndrome 13 0.033
449
P ART039 Arthrogryposis Due to Muscular Dystrophy 13 0.033
450
EYB003 Eyebrow Duplication - Syndactyly 13 0.033
451
MCH010 Michels Syndrome 13 0.033
452
OPH008 Ophthalmoplegia - Intellectual Deficit - Lingua Scrotalis 13 0.033
453
NND004 Non-Distal Monosomy 10q 12 0.033
454
PRP071 Paraplegia - Intellectual Deficit - Hyperkeratosis 12 0.033
455
PST075 Posterior Fusion of Lumbosacral Vertebrae - Blepharoptosis 12 0.033
456
UVL005 Uveal Coloboma - Cleft Lip and Palate - Intellectual Deficit 12 0.033
457
MCR174 Macrocephaly - Short Stature - Paraplegia 12 0.033
458
SHR053 Short Stature - Valvular Heart Disease - Characteristic Facies 12 0.033
459
TRG014 Trigonocephaly - Broad Thumbs 12 0.033
460
KZL001 Kozlowski Brown Hardwick Syndrome 12 0.033
461
ART040 Arthrogryposis Epileptic Seizures Migrational Brain Disorder 12 0.033
462
NGH011 Night Blindness - Skeletal Anomalies - Dysmorphism 12 0.033
463
TMB001 Tome Brunet Fardeau Syndrome 11 0.033
464
ALT003 Alternating Exotropia 11 0.033
465
3PD001 3p Deletion Syndrome 11 0.033
466
INT168 Intellectual Deficit-Unusual Facies, Davis-Lafer Type 11 0.033
467
ITR001 Iatrogenic Botulism 11 0.033
468
BLP010 Blepharophimosis Intellectual Disability Syndromes 10 0.033
469
TRC082 Trichodermal Syndrome - Intellectual Deficit 9 0.033
470
ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 9 0.033
471
BLP023 Blepharoptosis - Cleft Palate - Ectrodactyly - Dental Anomalies 8 0.033
472
KNG003 Konigsmark Knox Hussels Syndrome 8 0.033
473
MCH001 Mechanical Ectropion 8 0.033
474
MCR196 Macrostomia - Preauricular Tags - External Ophthalmoplegia 7 0.033
475
PRP070 Peripheral Precocious Puberty 7 0.033
476
MCH005 Mechanical Lagophthalmos 4 0.033
477
OPH009 Ophthalmoplegia - Myalgia - Tubular Aggregates 4 0.033