Search results for "ptosis"

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

470 hits were found for 'ptosis'

# Family MCID Name MIFTS Score
1
c BLP002 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 45 5.052
2
c BRT040 Baraitser-Winter Syndrome 36 4.104
3
P BLP012 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 28 3.902
4
c BLP013 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 19 3.521
5
BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 17 3.490
6
DFN004 Deafness Conductive Ptosis Skeletal Anomalies 17 3.479
7
TCK005 Tucker Syndrome 13 3.454
8
P PTS008 Ptosis, Congenital 22 3.153
9
MCR042 Microbrachycephaly Ptosis Cleft Lip 16 3.119
10
PTS007 Ptosis Strabismus Ectopic Pupils 11 3.092
11
c BLP029 Blepharophimosis - Epicanthus Inversus - Ptosis Due to 3q23 Microdeletion 12 3.077
12
c HRD067 Hereditary Congenital Ptosis 7 2.230
13
BLP028 Blepharophimosis-Ptosis-Intellectual Disability Syndrome 14 2.214
14
JRG001 Jorgenson Lenz Syndrome 19 2.196
15
PTS013 Ptosis - Upper Ocular Movement Limitation - Absence of Lacrimal Punctum 11 2.196
16
ANR042 Aniridia - Ptosis - Intellectual Disability - Familial Obesity 9 2.196
17
ANR015 Aniridia Ptosis Mental Retardation Obesity Familial 3 2.196
18
OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 3 2.196
19
SPR026 Sparse Hair Ptosis Mental Retardation 3 2.196
20
CNG098 Congenital Heart Disease Ptosis Hypodontia Craniostosis 2 2.196
21
CHR152 Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 1 2.196
22
TRF002 Treft Sanborn Carey Syndrome 11 2.175
23
c BLP021 Blepharophimosis - Epicanthus Inversus - Ptosis Due to a Point Mutation 10 2.175
24
c BLP019 Blepharophimosis - Epicanthus Inversus - Ptosis Due to Polya Expansion 8 2.175
25
c PTS009 Ptosis, Hereditary Congenital, 1 6 2.175
26
c PTS010 Ptosis, Hereditary Congenital 2 6 2.175
27
VRT006 Vertebral Fusion Posterior Lumbosacral Blepharoptosis 5 2.175
28
PTS005 Ptosis Coloboma Mental Retardation 3 2.175
29
PTS014 Ptosis - Syndactyly - Learning Difficulties 3 2.175
30
ART058 Arthrogryposis Multiple Congenita, Ophthalmoplegia, Ptosis 2 2.175
31
LYM111 Lymphedema - Ptosis 2 2.175
32
PTS006 Ptosis Strabismus Diastasis 1 2.175
33
MRC002 Marcus Gunn Phenomenon 29 1.620
34
P BRT038 Baraitser-Winter Syndrome 1 40 1.587
35
CRN054 Carnevale Syndrome 13 1.587
36
WLF002 Wolf-Hirschhorn Syndrome 61 1.566
37
WND002 Wandering Spleen 28 1.538
38
3MC001 3mc Syndrome 2 22 1.538
39
ISL037 Isolated Anterior Cervical Hypertrichosis 19 1.538
40
HYP182 Hypertrichosis, Anterior Cervical 10 1.538
41
RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 9 1.538
42
JNS005 Jones Hersh Yusk Syndrome 9 1.538
43
TSK001 Tsukahara Azuno Kajii Syndrome 4 1.538
44
MHT001 Mehta Lewis Patton Syndrome 3 1.538
45
MCP019 Mcpherson Robertson Cammarano Syndrome 2 1.538
46
BLP004 Blepharophimosis 38 0.360
47
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 42 0.159
48
c OPH004 Ophthalmoplegia 53 0.155
49
MNT147 Mental Retardation 52 0.148
50
MCR010 Microcephaly 53 0.115
51
P STR020 Strabismus 52 0.115
52
CLB001 Coloboma 68 0.099
53
EYD002 Eye Disease 59 0.094
54
P SPR013 Spiradenoma 56 0.094
55
P MYS003 Myasthenia Gravis 78 0.088
56
P SHR002 Short Stature 68 0.088
57
OCL008 Oculopharyngeal Muscular Dystrophy 64 0.088
58
ANR002 Aniridia 62 0.088
59
c MSC005 Muscular Dystrophy 62 0.088
60
P CHR095 Chronic Progressive External Ophthalmoplegia 56 0.088
61
THR013 Thoracic Outlet Syndrome 52 0.088
62
c SYN001 Syndactyly 51 0.081
63
RFR003 Refractive Error 48 0.081
64
AMB002 Amblyopia 47 0.081
65
P HRN001 Horner's Syndrome 43 0.081
66
EST005 Esotropia 43 0.081
67
c MYP006 Myopia 41 0.081
68
SYN053 Syndromic Diarrhea 34 0.081
69
P PRM019 Premature Ovarian Failure 66 0.074
70
CYS005 Cysticercosis 63 0.074
71
KRN002 Kearns-Sayre Syndrome 63 0.074
72
c BRC006 Brachydactyly 57 0.074
73
P BLP003 Blepharospasm 48 0.074
74
ECT005 Ectropion 43 0.074
75
c AXN002 Axenfeld-Rieger Syndrome 67 0.066
76
ARS001 Aarskog-Scott Syndrome 64 0.066
77
LRN003 Learning Disability 63 0.066
78
P CNJ013 Conjunctivitis 62 0.066
79
P HYP080 Hypogonadism 60 0.066
80
P DWR001 Dwarfism 55 0.066
81
PTT004 Pituitary Apoplexy 54 0.066
82
MNN014 Mononeuritis 51 0.066
83
DBW001 Dubowitz Syndrome 50 0.066
84
c OPT004 Optic Atrophy 50 0.066
85
SCH016 Schimke Immunoosseous Dysplasia 47 0.066
86
LYM029 Lymphedema-Distichiasis Syndrome 44 0.066
87
NRN002 Neuronitis 44 0.066
88
TTR016 Tetra-Amelia Syndrome 42 0.066
89
FCL012 Facial Paralysis 40 0.066
90
P MYP018 Myopia 6 36 0.066
91
SMT004 Smith-Lemli-Opitz Syndrome 84 0.057
92
P STH001 Saethre-Chotzen Syndrome 76 0.057
93
P RBN001 Rubinstein-Taybi Syndrome 76 0.057
94
ACN002 Acanthosis Nigricans 63 0.057
95
P MYP004 Myopathy 62 0.057
96
c DST002 Distal Arthrogryposis 61 0.057
97
MTR046 Maternally Inherited Diabetes and Deafness 59 0.057
98
SNS001 Sensorineural Hearing Loss 57 0.057
99
c MCP009 Mucopolysaccharidosis Ii 57 0.057
100
c SYN005 Synostosis 54 0.057
101
P CLF002 Cleft Palate 52 0.057
102
GLD002 Goldberg-Shprintzen Megacolon Syndrome 49 0.057
103
P ATX010 Ataxia Neuropathy Spectrum 43 0.057
104
HYP265 Hypotonia 41 0.057
105
c CNG047 Congenital Fibrosis of the Extraocular Muscles 37 0.057
106
INF006 Infant Botulism 36 0.057
107
LGP001 Lagophthalmos 32 0.057
108
P OBS005 Obesity 91 0.047
109
P MLT019 Multiple Myeloma 88 0.047
110
AND002 Androgen Insensitivity Syndrome 80 0.047
111
P LKM002 Leukemia 77 0.047
112
LSH001 Leishmaniasis 74 0.047
113
P RTH001 Rothmund-Thomson Syndrome 70 0.047
114
c AMY001 Amyotrophic Lateral Sclerosis 67 0.047
115
c JBR001 Joubert Syndrome 66 0.047
116
P CNT004 Centronuclear Myopathy 63 0.047
117
P ACT101 Acute Lymphoblastic Leukemia 63 0.047
118
c MYL007 Myeloma 61 0.047
119
P PLY019 Polyneuropathy 61 0.047
120
P CNG046 Congenital Fiber-Type Disproportion 60 0.047
121
c AMY077 Amyotrophic Lateral Sclerosis Type 18 60 0.047
122
WGR001 Wagr Syndrome 60 0.047
123
P CFF001 Coffin-Siris Syndrome 59 0.047
124
MYC002 Mycobacterium Avium Complex Disease 59 0.047
125
c ATX004 Ataxia 59 0.047
126
HDC001 Headache 58 0.047
127
c CTR002 Cataract 57 0.047
128
c LYM026 Lymphoblastic Leukemia 57 0.047
129
P AMY074 Amyotrophic Lateral Sclerosis Type 14 56 0.047
130
CTN007 Cutaneous Leishmaniasis 56 0.047
131
PLY020 Polyradiculoneuropathy 55 0.047
132
P EXP004 Exophthalmos 55 0.047
133
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 54 0.047
134
ANH002 Anhidrosis 54 0.047
135
c LYM025 Lymphedema 53 0.047
136
DYS073 Dysphagia 52 0.047
137
P DST010 Distal Arthrogryposis Type 5 50 0.047
138
MYK002 Myokymia 46 0.047
139
APR001 Apraxia 46 0.047
140
RDL002 Radioulnar Synostosis 44 0.047
141
GNT006 Giant Papillary Conjunctivitis 41 0.047
142
LCK001 Locked-in Syndrome 41 0.047
143
EXT022 Exotropia 40 0.047
144
PPL019 Papillary Conjunctivitis 38 0.047
145
c DMN027 Dominant Optic Atrophy 38 0.047
146
TLS001 Tolosa-Hunt Syndrome 37 0.047
147
PRG031 Progressive Hemifacial Atrophy 36 0.047
148
INT042 Internuclear Ophthalmoplegia 34 0.047
149
ENT005 Entropion 33 0.047
150
BLP001 Blepharochalasis 29 0.047
151
IRS007 Iris Hypoplasia 29 0.047
152
MSM004 Mesomelia-Synostoses Syndrome 27 0.047
153
P SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 27 0.047
154
P DST041 Distal Monosomy 3p 26 0.047
155
c BNG076 Benign Exophthalmos Syndrome 22 0.047
156
AND005 Androgen Insensitivity Syndrome, Mild 21 0.047
157
c ART104 Arthrogryposis, Distal, Type 5d 20 0.047
158
BLP010 Blepharophimosis Intellectual Disability Syndromes 18 0.047
159
P INT105 Intellectual Disability Multi-Gene Panels 16 0.047
160
SHR076 Short Stature - Intellectual Disability - Eye Anomalies - Cleft Lip/palate 15 0.047
161
P ATX002 Ataxia Telangiectasia 87 0.033
162
INF030 Infectious Mononucleosis 84 0.033
163
P TYS001 Tay-Sachs Disease 83 0.033
164
c NNN003 Noonan Syndrome 80 0.033
165
P MTH008 Methylmalonic Acidemia 79 0.033
166
CRZ001 Crouzon Syndrome 78 0.033
167
P RFS001 Refsum Disease 77 0.033
168
P ALX003 Alexander Disease 76 0.033
169
KWS002 Kawasaki Disease 76 0.033
170
SKN016 Skin Disease 75 0.033
171
c DBT009 Diabetes Mellitus 74 0.033
172
P TMP003 Temporal Arteritis 72 0.033
173
P CHR071 Charcot-Marie-Tooth Disease 72 0.033
174
P PRP001 Propionic Acidemia 71 0.033
175
MLT021 Multiple System Atrophy 71 0.033
176
c HYP086 Hypothyroidism 69 0.033
177
P CNG401 Congenital Heart Disease 69 0.033
178
P NNN008 Noonan Syndrome 1 68 0.033
179
P LBR001 Leber Congenital Amaurosis 68 0.033
180
P THY023 Thymoma 68 0.033
181
P CNG030 Congenital Muscular Dystrophy 67 0.033
182
P DGR001 Digeorge Syndrome 67 0.033
183
ERD001 Erdheim-Chester Disease 67 0.033
184
P TRN020 Turner Syndrome 67 0.033
185
LGG001 Legg-Calve-Perthes Disease 66 0.033
186
P MCH002 Machado-Joseph Disease 66 0.033
187
PRP030 Purpura 66 0.033
188
c UVT001 Uveitis 66 0.033
189
ADN018 Adenoma 66 0.033
190
c SCL016 Scleroderma 65 0.033
191
LYM017 Lyme Disease 65 0.033
192
TTN003 Tetanus 65 0.033
193
MNK003 Muenke Syndrome 63 0.033
194
P KRT004 Keratitis 62 0.033
195
LDD001 Ladd Syndrome 62 0.033
196
P CRB042 Cerebellar Ataxia 62 0.033
197
NRP001 Neuropathy 62 0.033
198
THR004 Thrombocytosis 61 0.033
199
GNG013 Gingivitis 61 0.033
200
CNT009 Central Core Myopathy 61 0.033
201
P PRC019 Precocious Puberty 60 0.033
202
P FTL006 Fetal Alcohol Spectrum Disorder 60 0.033
203
JCB001 Jacobsen Syndrome 60 0.033
204
P MLS001 Melas Syndrome 60 0.033
205
CLF001 Cleft Lip 60 0.033
206
MGC001 Megacolon 60 0.033
207
P ADN016 Adenocarcinoma 59 0.033
208
AMN001 Amenorrhea 59 0.033
209
GLM004 Gliomatosis Cerebri 59 0.033
210
JCK001 Jackson-Weiss Syndrome 58 0.033
211
EPD016 Epidermolysis Bullosa 58 0.033
212
PRT039 Proteinuria 58 0.033
213
NRF007 Neurofibroma 58 0.033
214
c EPD003 Epidermolysis Bullosa Simplex 58 0.033
215
PLS011 Plasmacytoma 57 0.033
216
ALP008 Alopecia 57 0.033
217
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 57 0.033
218
P KLL001 Kallmann Syndrome 57 0.033
219
P PLY006 Polydactyly 57 0.033
220
c KBK001 Kabuki Syndrome 57 0.033
221
BRJ001 Borjeson-Forssman-Lehmann Syndrome 57 0.033
222
P OP3001 Opa3-Related 3-Methylglutaconic Aciduria 56 0.033
223
P JBR004 Joubert Syndrome 2 56 0.033
224
TTH006 Tooth Disease 56 0.033
225
c TRM003 Tremor 56 0.033
226
P HLP012 Holoprosencephaly-3 55 0.033
227
LMB002 Lambert-Eaton Myasthenic Syndrome 55 0.033
228
P FNC025 Fanconi Anemia, Complementation Group J 55 0.033
229
ART001 Arterial Tortuosity Syndrome 55 0.033
230
P HMN013 Hemangiopericytoma 55 0.033
231
PRM013 Premature Menopause 55 0.033
232
c LPR012 Leopard Syndrome 1 54 0.033
233
HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 54 0.033
234
CRN024 Corneal Disease 54 0.033
235
c ANT034 Anterior Uveitis 54 0.033
236
AND003 Andersen-Tawil Syndrome 54 0.033
237
P KRT007 Keratoconus 53 0.033
238
CCH002 Coach Syndrome 53 0.033
239
P EHL009 Ehlers-Danlos Syndrome Type Iv 53 0.033
240
BLN003 Blindness 53 0.033
241
MBS002 Moebius Syndrome 53 0.033
242
RSD004 Rosai-Dorfman Disease 53 0.033
243
c HYD002 Hydronephrosis 52 0.033
244
ALL001 Allan-Herndon-Dudley Syndrome 52 0.033
245
NRF008 Neurofibromatosis-Noonan Syndrome 52 0.033
246
c CRD167 Cardiofaciocutaneous Syndrome 4 52 0.033
247
P CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 52 0.033
248
DGS001 Degos Disease 51 0.033
249
THR009 Thrombocytopenia-Absent Radius Syndrome 51 0.033
250
c WRD009 Waardenburg Syndrome Type 3 51 0.033
251
KRT008 Keratopathy 51 0.033
252
CLS010 Cluster Headache 50 0.033
253
SST001 Sost-Related Sclerosing Bone Dysplasia 50 0.033
254
PLX002 Plexiform Neurofibroma 50 0.033
255
KNS001 Kniest Dysplasia 50 0.033
256
CTS002 Cat-Scratch Disease 50 0.033
257
ECT006 Ectodermal Dysplasia 49 0.033
258
c WRD007 Waardenburg Syndrome Type 2a 49 0.033
259
ALB002 Albinism 49 0.033
260
CNV002 Conversion Disorder 49 0.033
261
MCP016 Mecp2 Duplication Syndrome 49 0.033
262
HDN002 Head Injury 49 0.033
263
EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 49 0.033
264
DRY001 Dry Eye Syndrome 48 0.033
265
P WRD005 Waardenburg Syndrome Type I 48 0.033
266
c JBR013 Joubert Syndrome 8 48 0.033
267
CRZ003 Crouzonodermoskeletal Syndrome 48 0.033
268
P CRN139 Cornelia De Lange Syndrome 1 48 0.033
269
P OVR046 Ovarian Cyst 47 0.033
270
c DMY001 Demyelinating Polyneuropathy 47 0.033
271
EPD029 Epidermolysis Bullosa Simplex, Generalized 47 0.033
272
P ATN005 Autonomic Dysfunction 47 0.033
273
CRT063 Creatine Transporter Deficiency 46 0.033
274
BRN003 Branchiooculofacial Syndrome 46 0.033
275
ANR040 Aneurysm 46 0.033
276
DYS018 Dysostosis 46 0.033
277
GYN001 Gynecomastia 46 0.033
278
RVL002 Ruvalcaba Syndrome 46 0.033
279
PRT093 Proteus Syndrome, Somatic 45 0.033
280
JBR005 Joubert Syndrome with Ocular Anomalies 45 0.033
281
c JVN024 Juvenile Hereditary Hemochromatosis 45 0.033
282
FTL007 Fetal Hydantoin Syndrome 45 0.033
283
BRS090 Breast Reconstruction 44 0.033
284
OCL014 Oculofaciocardiodental Syndrome 44 0.033
285
MYP019 Myopathy with Postural Muscle Atrophy, X-Linked 44 0.033
286
MYT011 Myotonia 44 0.033
287
TTH002 Tooth Agenesis 43 0.033
288
HMF004 Hemifacial Spasm 43 0.033
289
XLN011 X-Linked Centronuclear Myopathy 43 0.033
290
CRN077 Cranio Osteoarthropathy 43 0.033
291
IRT001 Iritis 43 0.033
292
c HYP087 Hypotrichosis 42 0.033
293
P CNG246 Congenital Hydronephrosis 42 0.033
294
HDR001 Hidrocystoma 42 0.033
295
c PRX056 Peroxisome Biogenesis Disorder 11b 42 0.033
296
GST040 Gastric Adenocarcinoma 41 0.033
297
NGR001 Nager Acrofacial Dysostosis 41 0.033
298
P RBN011 Robinow Syndrome, Autosomal Dominant 40 0.033
299
PHL006 Phelan-Mcdermid Syndrome 40 0.033
300
PHM001 Phimosis 40 0.033
301
CRB045 Cerebellar Hypoplasia 40 0.033
302
P DNS004 Duane Syndrome Type 2 39 0.033
303
WND001 Wound Botulism 39 0.033
304
MLT054 Multiple Pterygium Syndrome Escobar Type 39 0.033
305
P ORF011 Orofaciodigital Syndrome 6 39 0.033
306
DNR002 Duane-Radial Ray Syndrome 39 0.033
307
MYH012 Myhre Syndrome 39 0.033
308
PRM018 Primary Hypertrophic Osteoarthropathy 39 0.033
309
ELP001 Elephantiasis 39 0.033
310
IRD001 Iridocyclitis 38 0.033
311
GDS001 Good Syndrome 38 0.033
312
P SCH035 Schwartz Jampel Syndrome Type 1 38 0.033
313
22Q001 22q11.2 Duplication 38 0.033
314
JBR007 Joubert Syndrome with Renal Anomalies 38 0.033
315
SPS003 Spastic Diplegia 38 0.033
316
SPS057 Spasticity 38 0.033
317
P RNG004 Ring Chromosome 1 36 0.033
318
TRS007 Trismus-Pseudocamptodactyly Syndrome 36 0.033
319
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 36 0.033
320
P KBK002 Kabuki Syndrome 1 36 0.033
321
MTC065 Mitochondrial Dna Depletion Syndrome 8a 36 0.033
322
P FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 35 0.033
323
ADS002 Adie Syndrome 35 0.033
324
P PRR021 Perrault Syndrome 4 35 0.033
325
c MRD002 Marden-Walker Syndrome 34 0.033
326
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 34 0.033
327
HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 34 0.033
328
P KLN008 Koolen De Vries Syndrome 34 0.033
329
LTR009 Lateral Meningocele Syndrome 33 0.033
330
BRK004 Barakat Syndrome 33 0.033
331
P ATS061 Autosomal Recessive Hypotrichosis 33 0.033
332
P CHN018 Chondrodysplasia Punctata 2, X-Linked 32 0.033
333
P CRN035 Cranial Nerve Palsy 32 0.033
334
c RBN009 Robinow Syndrome, Autosomal Recessive 31 0.033
335
FCS005 Faces Syndrome 31 0.033
336
PRN033 Paraneoplastic Neurologic Disorders 31 0.033
337
c TTR017 Tetrasomy 12p 31 0.033
338
LTH002 Lathosterolosis 31 0.033
339
ZNC001 Zunich Neuroectodermal Syndrome 31 0.033
340
CRD019 Cardiocranial Syndrome 31 0.033
341
DLT006 Dilated Cardiomyopathy with Hypergonadotropic Hypogonadism 31 0.033
342
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 30 0.033
343
CHR101 Char Syndrome 30 0.033
344
MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 30 0.033
345
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 30 0.033
346
HYP347 Hypotonia-Cystinuria Syndrome 29 0.033
347
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 29 0.033
348
P MNS007 Monosomy 18p 29 0.033
349
TFT003 Tufting Enteropathy 28 0.033
350
HNM002 Hinman Syndrome 28 0.033
351
SYS006 Say Syndrome 28 0.033
352
MBS001 Mobius Syndrome 28 0.033
353
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 28 0.033
354
FRN022 Frontofacionasal Dysplasia 27 0.033
355
SYN016 Syndactyly Cenani Lenz Type 26 0.033
356
JBR008 Juberg-Hayward Syndrome 26 0.033
357
c CRD132 Cardiac Conduction Defect 26 0.033
358
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 26 0.033
359
HYP048 Hypotropia 26 0.033
360
FDB001 Foodborne Botulism 26 0.033
361
HRT030 Hartsfield Syndrome 26 0.033
362
VRN001 Vernal Conjunctivitis 25 0.033
363
LNR005 Linear Scleroderma 25 0.033
364
c MSC016 Mosaic Trisomy 14 24 0.033
365
MTC059 Mitochondrial Dna Depletion Syndrome 5 24 0.033
366
P INT006 Intestinal Botulism 24 0.033
367
GGN004 Gigantomastia 23 0.033
368
BLP030 Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type 23 0.033
369
TLH001 Tel Hashomer Camptodactyly Syndrome 23 0.033
370
2P1002 2p15p16.1 Microdeletion Syndrome 23 0.033
371
ACR033 Acrofrontofacionasal Dysostosis Syndrome 23 0.033
372
ART007 Aorta Atresia 23 0.033
373
c CHR209 Chromosome 17p Duplication 22 0.033
374
GRM003 German Syndrome 22 0.033
375
SCR025 Scarf Syndrome 22 0.033
376
c 2Q3005 2q31.1 Microdeletion Syndrome 22 0.033
377
NTV001 Native American Myopathy 22 0.033
378
BRC019 Brachycephalofrontonasal Dysplasia 22 0.033
379
TRC007 Tricuspid Valve Prolapse 22 0.033
380
PSD045 Pseudoprogeria Syndrome 22 0.033
381
ASC005 Ascher's Syndrome 22 0.033
382
EXP002 Exposure Keratitis 22 0.033
383
3PD001 3p Deletion Syndrome 21 0.033
384
MCD002 Mcdonough Syndrome 21 0.033
385
WCK003 Wieacker-Wolf Syndrome 21 0.033
386
CNT070 Centronuclear Myopathy, Autosomal, Modifier of 21 0.033
387
CRN190 Craniosynostosis - Fibular Aplasia 21 0.033
388
CDS002 Codas Syndrome 20 0.033
389
CRB058 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 20 0.033
390
CNG118 Congenital Nonprogressive Myopathy with Moebius and Robin Sequences 20 0.033
391
HYP474 Hypertrichosis Cubiti - Short Stature 20 0.033
392
c 8Q2001 8q21.11 Microdeletion Syndrome 20 0.033
393
c 4Q2001 4q21 Microdeletion Syndrome 20 0.033
394
FML093 Familial Visceral Myopathy with External Ophthalmoplegia 19 0.033
395
NRF010 Neurofaciodigitorenal Syndrome 19 0.033
396
DRM023 Dermoodontodysplasia 19 0.033
397
XLN073 X-Linked Mandibulofacial Dysostosis 19 0.033
398
c CNG333 Congenital Horner Syndrome 19 0.033
399
NSD003 Nasodigitoacoustic Syndrome 19 0.033
400
MTC061 Mitochondrial Dna Depletion Syndrome 1 19 0.033
401
TBS002 Teebi Shaltout Syndrome 19 0.033
402
KPL001 Kaplan Plauchu Fitch Syndrome 19 0.033
403
BRD023 Bird Headed Dwarfism Montreal Type 18 0.033
404
c CHR252 Chromosome 5p Duplication 18 0.033
405
MNS009 Monosomy 13q14 18 0.033
406
MSC027 Muscular Dystrophy, Congenital, Infantile with Cataract and Hypogonadism 18 0.033
407
MCR047 Microcephaly Cervical Spine Fusion Anomalies 18 0.033
408
OCL003 Oculomotor Nerve Paralysis 18 0.033
409
RZN001 Rozin Hertz Goodman Syndrome 18 0.033
410
MCR170 Microcephaly - Cleft Palate 17 0.033
411
P DST036 Distal Trisomy 15q 17 0.033
412
CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 17 0.033
413
MCH010 Michels Syndrome 17 0.033
414
c DST045 Distal Trisomy 6p 17 0.033
415
SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 17 0.033
416
HPT076 Hepatic Fibrosis - Renal Cysts - Intellectual Disability 17 0.033
417
OTP003 Oto-Palatal-Digital Syndrome 17 0.033
418
ANR012 Aniridia Absent Patella 17 0.033
419
PLY046 Polysyndactyly Cardiac Malformation 17 0.033
420
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 16 0.033
421
c JVN038 Juvenile Myasthenia Gravis 16 0.033
422
NGB001 Naguib-Richieri-Costa Syndrome 16 0.033
423
c SCH065 Schwartz–jampel Syndrome 16 0.033
424
ITR001 Iatrogenic Botulism 16 0.033
425
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 16 0.033
426
PTR025 Pterygium Colli - Intellectual Disability - Digital Anomalies 16 0.033
427
SPN113 Spinocerebellar Ataxia with Dysmorphism 15 0.033
428
XLN125 X-Linked Intellectual Disability - Dysmorphism - Cerebral Atrophy 15 0.033
429
SVR009 Seaver Cassidy Syndrome 15 0.033
430
EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 15 0.033
431
BLP014 Blepharoptosis Myopia Ectopia Lentis 15 0.033
432
RNL050 Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 15 0.033
433
DLY006 Delayed Speech - Facial Asymmetry - Strabismus - Ear Lobe Creases 14 0.033
434
DYS131 Dysmorphism - Short Stature - Deafness - Disorder of Sex Development 14 0.033
435
c ADL069 Adult Intestinal Botulism 14 0.033
436
INH013 Inhalational Botulism 14 0.033
437
CRB129 Cerebro-Reno-Digital Syndrome 14 0.033
438
DFN225 Deafness - Small Bowel Diverticulosis - Neuropathy 14 0.033
439
HYP303 Hypogonadism, Hypergonadotropic 13 0.033
440
INT242 Intellectual Disability - Myopathy - Short Stature - Endocrine Defect 13 0.033
441
GRW019 Growth Deficiency - Brachydactyly - Dysmorphism 13 0.033
442
PRM135 Paramedian Nasal Cleft 13 0.033
443
FLL046 Fallot Complex - Intellectual Disability - Growth Delay 13 0.033
444
CTR089 Cataract - Aberrant Oral Frenula - Growth Delay 13 0.033
445
KZL001 Kozlowski Brown Hardwick Syndrome 13 0.033
446
PLY088 Polyvalvular Heart Disease Syndrome 13 0.033
447
P ART039 Arthrogryposis Due to Muscular Dystrophy 13 0.033
448
PRP081 Paraplegia - Intellectual Disability - Hyperkeratosis 13 0.033
449
PST075 Posterior Fusion of Lumbosacral Vertebrae - Blepharoptosis 13 0.033
450
VSC038 Visceral Neuropathy - Brain Anomalies - Facial Dysmorphism - Developmental Delay 13 0.033
451
OPH010 Ophthalmoplegia - Intellectual Disability - Lingua Scrotalis 13 0.033
452
EYB003 Eyebrow Duplication - Syndactyly 12 0.033
453
INT236 Intellectual Disability - Unusual Facies 12 0.033
454
SHR053 Short Stature - Valvular Heart Disease - Characteristic Facies 12 0.033
455
INT235 Intellectual Disability-Unusual Facies, Davis-Lafer Type 12 0.033
456
MCR174 Macrocephaly - Short Stature - Paraplegia 12 0.033
457
TRG014 Trigonocephaly - Broad Thumbs 12 0.033
458
NGH011 Night Blindness - Skeletal Anomalies - Dysmorphism 11 0.033
459
TMB001 Tome Brunet Fardeau Syndrome 11 0.033
460
NND004 Non-Distal Monosomy 10q 11 0.033
461
TXN001 Toxin-Mediated Infectious Botulism 10 0.033
462
ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 10 0.033
463
ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 10 0.033
464
TRC089 Trichodermal Syndrome - Intellectual Disability 10 0.033
465
BLP023 Blepharoptosis - Cleft Palate - Ectrodactyly - Dental Anomalies 8 0.033
466
KNG003 Konigsmark Knox Hussels Syndrome 8 0.033
467
PRP069 Purpura Simplex 8 0.033
468
MCR196 Macrostomia - Preauricular Tags - External Ophthalmoplegia 7 0.033
469
RCH004 Richieri Costa Guion Almeida Syndrome 6 0.033
470
OPH009 Ophthalmoplegia - Myalgia - Tubular Aggregates 4 0.033