Search results for craniofacial anomalies

448 hits were found for craniofacial anomalies

# Family MCID Name MIFTS Score
1
CRN213 Craniosynostosis with Radiohumeral Fusions and Other Skeletal and Craniofacial Anomalies 16 3.795
2
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 29 3.487
3
CRN210 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 15 3.463
4
GRL004 Gorlin-Chaudhry-Moss Syndrome 26 2.389
5
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19 2.326
6
3MC003 3mc Syndrome 41 2.306
7
MTC088 Mitochondrial Dna Depletion Syndrome 13 28 2.169
8
FBX003 Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome 12 2.169
9
SMS004 Simosa Craniofacial Syndrome 18 1.981
10
DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 18 1.571
11
TBS009 Teebi-Shaltout Syndrome 19 1.557
12
c MNT241 Mental Retardation, Autosomal Dominant 32 23 1.541
13
MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 20 1.534
14
HRS002 Hersh Podruch Weisskopk Syndrome 17 1.534
15
LJN002 Lujan Syndrome 16 1.534
16
RMM001 Rommen Mueller Sybert Syndrome 12 1.534
17
HRR001 Harrod Doman Keele Syndrome 6 1.534
18
BKR001 Baker Vinters Syndrome 2 1.534
19
CRN051 Craniofacial Microsomia 25 0.224
20
DYS018 Dysostosis 42 0.218
21
FBR009 Fibrous Dysplasia 44 0.168
22
CLF001 Cleft Lip 49 0.158
23
SYN005 Synostosis 45 0.149
24
P CRN037 Craniosynostosis 65 0.148
25
CRZ001 Crouzon Syndrome 70 0.134
26
BRT030 Birth Defects 44 0.132
27
P HLP001 Holoprosencephaly 65 0.111
28
P ENC008 Encephalocele 48 0.109
29
CLB001 Coloboma 54 0.101
30
P INT063 Intellectual Disability 58 0.098
31
CRB009 Cerebritis 39 0.094
32
P SHR029 Short Syndrome 61 0.093
33
P MCR010 Microcephaly 58 0.092
34
ECT006 Ectodermal Dysplasia 52 0.091
35
P CLD001 Cleidocranial Dysplasia 62 0.086
36
CRN083 Craniofacial Dyssynostosis 18 0.084
37
P PLY006 Polydactyly 54 0.084
38
PLG004 Plagiocephaly 42 0.084
39
P SLP006 Sleep Apnea 60 0.081
40
RTN023 Retinitis 49 0.080
41
DWR001 Dwarfism 45 0.080
42
P AXN002 Axenfeld-Rieger Syndrome 51 0.079
43
MCR103 Microtia 39 0.079
44
ALR002 Al-Raqad Syndrome 29 0.079
45
P LRS001 Larsen Syndrome 53 0.079
46
P CRV039 Cervicitis 45 0.077
47
P CTR002 Cataract 57 0.077
48
HMF006 Hemifacial Microsomia 54 0.077
49
P PFF001 Pfeiffer Syndrome 71 0.077
50
P FTL001 Fetal Alcohol Syndrome 53 0.076
51
CLF004 Cleft Lip/palate 45 0.075
52
TMT003 Temtamy Syndrome 29 0.075
53
P KLP003 Klippel-Feil Syndrome 44 0.074
54
AMN009 Amniotic Band Syndrome 29 0.074
55
SKL014 Skeletal Dysplasia 46 0.073
56
SKL017 Skeletal Dysplasias 44 0.073
57
P HYP265 Hypotonia 39 0.072
58
CHR103 Charge Syndrome 65 0.072
59
c BRN108 Branchiootic Syndrome 1 35 0.071
60
KDS001 Kid Syndrome 57 0.070
61
c RTS003 Ritscher-Schinzel Syndrome 1 34 0.070
62
P BRC006 Brachydactyly 55 0.069
63
OBS061 Obstructive Sleep Apnea 65 0.069
64
CHL071 Child Syndrome 59 0.068
65
PTR032 Peters-Plus Syndrome 59 0.068
66
P EPL164 Epilepsy 65 0.067
67
P ANR002 Aniridia 66 0.066
68
FCL064 Facial Dysmorphism with Multiple Malformations 27 0.066
69
ESP020 Esophageal Atresia 50 0.066
70
P CRN012 Craniometaphyseal Dysplasia 46 0.065
71
CHN069 Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome 14 0.065
72
FRY002 Fryns Syndrome 40 0.065
73
LMB014 Limb-Body Wall Complex 20 0.064
74
KBG001 Kbg Syndrome 49 0.064
75
VSC047 Vascular Malformation 43 0.064
76
P HMN010 Hemangioma 59 0.063
77
P TRN020 Turner Syndrome 65 0.062
78
P MYP004 Myopathy 68 0.062
79
SMT008 Smith-Magenis Syndrome 55 0.062
80
P VLC001 Velocardiofacial Syndrome 64 0.062
81
P HYP040 Hypospadias 58 0.062
82
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 41 0.062
83
P SLV001 Silver-Russell Syndrome 56 0.061
84
P TRC072 Treacher Collins Syndrome 1 54 0.061
85
PTC001 Potocki-Shaffer Syndrome 38 0.061
86
CRY002 Cryptorchidism 61 0.061
87
TTH002 Tooth Agenesis 52 0.061
88
AYM001 Ayme-Gripp Syndrome 32 0.060
89
P FNC043 Fanconi Anemia, Complementation Group E 51 0.059
90
P HRT032 Heart Disease 75 0.059
91
ACR008 Acrocallosal Syndrome 55 0.059
92
GRW007 Growth Hormone Deficiency 48 0.059
93
SNS001 Sensorineural Hearing Loss 54 0.058
94
HPT074 Hepatic Adenoma, Somatic 44 0.058
95
APR006 Apert Syndrome 68 0.058
96
BLP004 Blepharophimosis 36 0.057
97
DWN001 Down Syndrome 69 0.057
98
ACH004 Achondroplasia 66 0.057
99
HNM002 Hinman Syndrome 27 0.055
100
BNS002 Bone Structure Disease 36 0.055
101
SKN023 Skin Tag 46 0.053
102
ACR058 Acrofacial Dysostosis 1, Nager Type 41 0.053
103
FCL011 Facial Nerve Disease 35 0.053
104
c TRC073 Treacher Collins Syndrome 2 24 0.053
105
DPR014 Diprosopus 20 0.053
106
P TRT010 Teratoma 51 0.053
107
HYP077 Hypertrichosis 48 0.053
108
AND005 Androgen Insensitivity Syndrome, Mild 16 0.053
109
P NRV007 Nervous System Disease 70 0.052
110
ANX002 Anxiety Disorder 66 0.052
111
FCL012 Facial Paralysis 49 0.052
112
FBR054 Fibroma 41 0.052
113
P BRD002 Bardet-Biedl Syndrome 64 0.052
114
P STR020 Strabismus 52 0.052
115
CDS002 Codas Syndrome 37 0.052
116
CFF002 Coffin-Lowry Syndrome 58 0.052
117
PHR003 Pharyngitis 53 0.052
118
BND014 Bone Development Disease 39 0.052
119
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 28 0.052
120
P HPT021 Hepatitis 68 0.051
121
P HYD006 Hydrocephalus 66 0.051
122
P MSC005 Muscular Dystrophy 65 0.051
123
P EHL001 Ehlers-Danlos Syndrome 61 0.050
124
P HYP086 Hypothyroidism 60 0.050
125
P STH001 Saethre-Chotzen Syndrome 60 0.050
126
ELL001 Ellis-Van Creveld Syndrome 59 0.050
127
ADL002 Adult Syndrome 57 0.050
128
CRD002 Cri-Du-Chat Syndrome 49 0.050
129
NRL016 Neural Tube Defects 76 0.050
130
IMG001 Image Syndrome 58 0.050
131
OMP004 Omphalocele 51 0.050
132
P DNR001 Duane Retraction Syndrome 43 0.050
133
P HYP035 Hypophosphatasia 57 0.049
134
P AML002 Amelogenesis Imperfecta 44 0.049
135
NSP002 Nasopharyngitis 40 0.049
136
ANR040 Aneurysm 57 0.049
137
RNL078 Renal Dysplasia 50 0.049
138
P PTN002 Patent Ductus Arteriosus 48 0.049
139
ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 16 0.049
140
P NRB001 Neuroblastoma 71 0.049
141
c CNG006 Congenital Hypothyroidism 60 0.049
142
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 31 0.049
143
CNG065 Congenital Contractures 30 0.049
144
SHR073 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 23 0.049
145
LTR012 Lateral Facial Dysplasia 11 0.049
146
P KDN018 Kidney Disease 65 0.048
147
TRC040 Tracheoesophageal Fistula 46 0.048
148
CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 24 0.048
149
P OBS005 Obesity 91 0.047
150
WLL001 Williams-Beuren Syndrome 62 0.047
151
P DST002 Distal Arthrogryposis 57 0.047
152
P SMP003 Simpson-Golabi-Behmel Syndrome 53 0.047
153
WLF002 Wolf-Hirschhorn Syndrome 50 0.047
154
ANT003 Antley-Bixler Syndrome 50 0.047
155
CST001 Costello Syndrome 67 0.047
156
P WVR001 Weaver Syndrome 60 0.047
157
P SNS014 Sinusitis 59 0.047
158
NRM005 Neuromuscular Disease 55 0.047
159
INT075 Intracranial Hypertension 48 0.047
160
RNS001 Raine Syndrome 44 0.047
161
HYP299 Hyperostosis, Endosteal 44 0.047
162
EHL053 Ehlers-Danlos Syndrome, Progeroid Type, 2 34 0.047
163
c PRX091 Peroxisome Biogenesis Disorder 8a 26 0.047
164
P DGR001 Digeorge Syndrome 54 0.046
165
P LSS002 Lissencephaly 48 0.046
166
GNT031 Genitopatellar Syndrome 43 0.046
167
P ANT073 Anterior Segment Dysgenesis 1, Multiple Subtypes 40 0.046
168
SPL040 Split Hand 36 0.046
169
P LYM118 Lymphoma 69 0.045
170
P OST005 Osteogenesis Imperfecta 68 0.045
171
GNG013 Gingivitis 61 0.045
172
ANN002 Anencephaly 53 0.045
173
SMT004 Smith-Lemli-Opitz Syndrome 69 0.045
174
CTL005 Catel-Manzke Syndrome 33 0.045
175
c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 33 0.045
176
GGN002 Gigantism 32 0.045
177
LDD001 Ladd Syndrome 60 0.044
178
P PTS002 Ptosis 52 0.044
179
P RNL100 Renal Hypodysplasia/aplasia 1 50 0.044
180
CRN248 Craniofrontonasal Dysplasia 46 0.044
181
c HLP025 Holoprosencephaly 9 28 0.044
182
MSM004 Mesomelia-Synostoses Syndrome 25 0.044
183
WLL006 Wells Syndrome 58 0.043
184
OST044 Osteoglophonic Dysplasia 49 0.043
185
P RBN002 Robinow Syndrome 47 0.043
186
HYP068 Hyperostosis 38 0.043
187
TTR016 Tetra-Amelia Syndrome 38 0.043
188
ALG027 Al-Gazali-Bakalinova Syndrome 29 0.043
189
CRR015 Curry-Jones Syndrome, Somatic Mosaic 28 0.043
190
c CNT035 Central Nervous System Disease 60 0.043
191
ARS001 Aarskog-Scott Syndrome 54 0.043
192
OST015 Osteochondrodysplasia 52 0.043
193
CLF027 Cleft Palate, Isolated 52 0.043
194
SCT005 Scott Syndrome 51 0.043
195
URB001 Urbach-Wiethe Disease 50 0.043
196
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 49 0.043
197
P SCL018 Scoliosis 56 0.042
198
c EHL032 Ehlers-Danlos Syndrome, Type Viib 50 0.042
199
NLL002 Null Syndrome 26 0.042
200
STB002 Satb2-Associated Syndrome 22 0.042
201
PTR009 Pterygium Colli Mental Retardation Digital Anomalies 3 0.042
202
P BCK002 Beckwith-Wiedemann Syndrome 58 0.040
203
CHR619 Chromosome 2q35 Duplication Syndrome 52 0.040
204
CRB045 Cerebellar Hypoplasia 50 0.040
205
ECS001 Eec Syndrome 42 0.040
206
SPS057 Spasticity 42 0.040
207
ATS010 Autosomal Recessive Disease 39 0.040
208
c OTP006 Otopalatodigital Syndrome, Type I 38 0.040
209
P SCL047 Sclerocornea 27 0.040
210
c KLP009 Klippel-Feil Syndrome 2 23 0.040
211
P NRF018 Neurofibromatosis, Type 1 78 0.040
212
FBR011 Fibrodysplasia Ossificans Progressiva 63 0.040
213
RSP006 Respiratory System Disease 60 0.040
214
RHM027 Rheumatic Disease 57 0.040
215
SHP002 Shprintzen-Goldberg Syndrome 55 0.040
216
P HLL001 Hallermann-Streiff Syndrome 55 0.040
217
HDC001 Headache 53 0.040
218
MND007 Mandibuloacral Dysplasia 51 0.040
219
c DMN023 Diamond-Blackfan Anemia 1 50 0.040
220
PYC001 Pycnodysostosis 50 0.040
221
FSC004 Fasciitis 44 0.040
222
c SPL034 Split-Hand/foot Malformation 4 41 0.040
223
P ORF002 Orofacial Cleft 40 0.040
224
P PRT042 Parietal Foramina 38 0.040
225
MSC004 Muscle Tissue Disease 37 0.040
226
c KNB004 Knobloch Syndrome, Type 1 32 0.040
227
c DMN017 Diamond-Blackfan Anemia 10 32 0.040
228
c PRX060 Peroxisome Biogenesis Disorder 5a 31 0.040
229
c PRX063 Peroxisome Biogenesis Disorder 2a 30 0.040
230
c DMN024 Diamond-Blackfan Anemia 7 30 0.040
231
c DMN006 Diamond-Blackfan Anemia 3 30 0.040
232
c DMN018 Diamond-Blackfan Anemia 5 30 0.040
233
c PRX065 Peroxisome Biogenesis Disorder 3a 30 0.040
234
c DMN021 Diamond-Blackfan Anemia 6 30 0.040
235
c DMN019 Diamond-Blackfan Anemia 4 29 0.040
236
c DMN020 Diamond-Blackfan Anemia 8 28 0.040
237
c DMN029 Diamond-Blackfan Anemia 11 28 0.040
238
c DMN028 Diamond-Blackfan Anemia 12 28 0.040
239
c DMN022 Diamond-Blackfan Anemia 9 27 0.040
240
c PRX054 Peroxisome Biogenesis Disorder 12a 27 0.040
241
c PRX055 Peroxisome Biogenesis Disorder 11a 27 0.040
242
c EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 27 0.040
243
c PRX057 Peroxisome Biogenesis Disorder 4a 26 0.040
244
c PRX048 Peroxisome Biogenesis Disorder 10a 25 0.040
245
c PRX046 Peroxisome Biogenesis Disorder 7a 25 0.040
246
c PRX052 Peroxisome Biogenesis Disorder 13a 25 0.040
247
P PRX051 Peroxisome Biogenesis Disorder 6a 25 0.040
248
OCC011 Occipital Encephalocele 23 0.040
249
c ARC011 Auriculocondylar Syndrome 2 21 0.040
250
c ARC017 Auriculocondylar Syndrome 3 18 0.040
251
PRR016 Pierre Robin Syndrome 50 0.039
252
LRY029 Laryngomalacia 41 0.039
253
EMN001 Emanuel Syndrome 41 0.039
254
PLY024 Polymicrogyria 36 0.039
255
WBR001 Weber Syndrome 36 0.039
256
HRL006 Harel-Yoon Syndrome 25 0.039
257
CRY010 Cryptophthalmos 24 0.039
258
RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 17 0.039
259
PRB002 Proboscis Lateralis 12 0.039
260
ISL075 Isolated Pierre Robin Sequence 11 0.039
261
P FRG001 Fragile X Syndrome 67 0.037
262
c PND001 Pain Disorder 55 0.037
263
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 54 0.037
264
PRP019 Peripheral Nervous System Disease 53 0.037
265
P MSC033 Muscle Disorders 52 0.037
266
c PLY060 Polycystic Kidney Disease 2 51 0.037
267
BNF002 Bone Fracture 51 0.037
268
VND002 Van Der Woude Syndrome 50 0.037
269
P CLL015 Collagen Disease 50 0.037
270
JCK001 Jackson-Weiss Syndrome 49 0.037
271
JHN001 Johanson-Blizzard Syndrome 47 0.037
272
ECT078 Ectodermal Dysplasia 2, Clouston Type 47 0.037
273
P NML001 Nemaline Myopathy 47 0.037
274
P PRD008 Periodontitis 46 0.037
275
GDS001 Good Syndrome 46 0.037
276
P FRN012 Frontometaphyseal Dysplasia 43 0.037
277
OLF005 Olfactory Neuroblastoma 43 0.037
278
P CRN013 Craniodiaphyseal Dysplasia 42 0.037
279
JVN033 Juvenile Nasopharyngeal Angiofibroma 39 0.037
280
MLR003 Melorheostosis 37 0.037
281
P SPL061 Split Hand-Foot Malformation 35 0.037
282
MN1001 Mn1 31 0.037
283
c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29 0.037
284
DYS045 Dysosteosclerosis 26 0.037
285
ACR037 Acromegaloid Facial Appearance Syndrome 24 0.037
286
CHR266 Chromosome 8p23.1 Deletion 23 0.037
287
c FRN037 Frontal Encephalocele 21 0.037
288
OCL044 Oculo-Auriculo-Vertebral Spectrum 18 0.037
289
ALG026 Al-Gazali Syndrome 18 0.037
290
MTH009 Mouth Disease 62 0.037
291
P CNG015 Congenital Diaphragmatic Hernia 60 0.037
292
ACN002 Acanthosis Nigricans 56 0.037
293
KLP010 Klippel-Trenaunay-Weber Syndrome 55 0.037
294
P HYP024 Hypoparathyroidism 52 0.037
295
ANK001 Ankylosis 51 0.037
296
BLL001 Baller-Gerold Syndrome 51 0.037
297
MBS002 Moebius Syndrome 49 0.037
298
P MWT001 Mowat-Wilson Syndrome 48 0.037
299
DBW001 Dubowitz Syndrome 44 0.037
300
NSY001 N Syndrome 44 0.037
301
HYP017 Hypophosphatemia 42 0.037
302
END072 Endotheliitis 41 0.037
303
ISC016 Ischiocoxopodopatellar Syndrome 28 0.037
304
LYM035 Lymphangiectasis 27 0.037
305
3MC001 3mc Syndrome 2 25 0.037
306
PRG122 Prognathism, Mandibular 20 0.037
307
MDL016 Midline Cervical Cleft 19 0.037
308
P MNN013 Meningitis 65 0.035
309
CNN005 Connective Tissue Disease 61 0.035
310
P CTS001 Cutis Laxa 60 0.035
311
P MYP006 Myopia 59 0.035
312
ADN018 Adenoma 58 0.035
313
DRM014 Dermatofibrosarcoma Protuberans 57 0.035
314
P NRP001 Neuropathy 57 0.035
315
P LPR002 Leopard Syndrome 54 0.035
316
P FRS014 Fraser Syndrome 1 51 0.035
317
c ORF037 Orofaciodigital Syndrome I 48 0.035
318
WDH003 Woodhouse-Sakati Syndrome 47 0.035
319
HMH002 Hemihypertrophy 40 0.035
320
P CHR342 Chiari Malformation 38 0.035
321
P HMF004 Hemifacial Spasm 37 0.035
322
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 37 0.035
323
ANK008 Ankyloglossia 35 0.035
324
GPS001 Gapo Syndrome 34 0.035
325
CTS011 Cutis Marmorata Telangiectatica Congenita 32 0.035
326
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 32 0.035
327
c RBN021 Rubinstein-Taybi Syndrome 1 32 0.035
328
SPR031 Sprengel Deformity 25 0.035
329
c CRD167 Cardiofaciocutaneous Syndrome 4 24 0.035
330
MNN022 Meningoencephalocele 20 0.035
331
BSL036 Basal Cell Nevus Syndrome 67 0.032
332
NRF007 Neurofibroma 58 0.032
333
HYP042 Hypochondroplasia 58 0.032
334
P SCK004 Seckel Syndrome 54 0.032
335
RTN017 Retinal Detachment 54 0.032
336
THR100 Thrombocytopenic Purpura, Autoimmune 54 0.032
337
CND002 Conduct Disorder 53 0.032
338
P FTL009 Fetal Akinesia Deformation Sequence 53 0.032
339
RNP001 Renpenning Syndrome 52 0.032
340
MVM001 Movement Disease 52 0.032
341
P CFF008 Coffin-Siris Syndrome 1 51 0.032
342
P HMC002 Homocystinuria 49 0.032
343
P DYS021 Dysautonomia 45 0.032
344
CVR006 Cavernous Hemangioma 45 0.032
345
ISC002 Ischemic Optic Neuropathy 44 0.032
346
DRM013 Dermoid Cyst 44 0.032
347
VHW001 Vohwinkel Syndrome 43 0.032
348
CRN031 Cranial Nerve Disease 41 0.032
349
c CTR130 Cataract 9, Multiple Types 40 0.032
350
MYH012 Myhre Syndrome 39 0.032
351
CLP005 Ciliopathy 38 0.032
352
P PRK003 Parkes Weber Syndrome 38 0.032
353
ACR041 Acromelic Frontonasal Dysostosis 37 0.032
354
HMF008 Hemifacial Atrophy, Progressive 34 0.032
355
ANG037 Angiomatosis 32 0.032
356
c HLP027 Holoprosencephaly 7 32 0.032
357
P DMN036 Diamond Blackfan Anemia 15 with Mandibulofacial Dysostosis 29 0.032
358
EYC003 Eye Accommodation Disease 25 0.032
359
HMM004 Hamamy Syndrome 25 0.032
360
c CRD164 Cardiofaciocutaneous Syndrome 3 24 0.032
361
c DMN040 Diamond-Blackfan Anemia 16 22 0.032
362
WLL012 Williams-Beuren Region Duplication Syndrome 22 0.032
363
c DMN030 Diamond-Blackfan Anemia 13 21 0.032
364
ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 20 0.032
365
BSL042 Basilar Impression, Primary 19 0.032
366
c DMN039 Diamond-Blackfan Anemia 17 19 0.032
367
c DMN037 Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis 17 0.032
368
BNJ001 Benjamin Syndrome 11 0.032
369
c ACR046 Acropectorovertebral Dysplasia F Form 8 0.032
370
INS024 Insulin-Like Growth Factor I 75 0.028
371
SQM006 Squamous Cell Carcinoma 69 0.028
372
P CLC005 Celiac Disease 69 0.028
373
P THN009 Thanatophoric Dysplasia, Type I 64 0.028
374
MNK003 Muenke Syndrome 60 0.028
375
P TMT001 Timothy Syndrome 58 0.028
376
CMP005 Campomelic Dysplasia 58 0.028
377
KRN002 Kearns-Sayre Syndrome 57 0.028
378
P OCL013 Oculodentodigital Dysplasia 57 0.028
379
CYS010 Cystinosis 53 0.028
380
c PRX045 Peroxisome Biogenesis Disorder 1b 53 0.028
381
CSY001 C Syndrome 53 0.028
382
P PLY014 Polycystic Kidney Disease 52 0.028
383
P DBT005 Diabetes Insipidus 52 0.028
384
GRG001 Greig Cephalopolysyndactyly Syndrome 51 0.028
385
SCK005 Sickle Cell Disease 51 0.028
386
RPP001 Rapp-Hodgkin Syndrome 51 0.028
387
P CRN108 Cranioectodermal Dysplasia 1 50 0.028
388
MRS002 Marshall Syndrome 50 0.028
389
GNR004 Generalized Anxiety Disorder 49 0.028
390
PRP016 Paraplegia 48 0.028
391
PRT030 Parathyroid Gland Disease 47 0.028
392
P SYR001 Syringomyelia 47 0.028
393
UPP004 Upper Respiratory Tract Disease 46 0.028
394
HND003 Hand-Foot-Uterus Syndrome 45 0.028
395
P MTH007 Methemoglobinemia 44 0.028
396
AND001 Anodontia 42 0.028
397
SYN031 Synovial Chondromatosis 42 0.028
398
MTR010 Mature Teratoma 42 0.028
399
FTL021 Fetal Macrosomia 41 0.028
400
c CHR320 Chiari Malformation Type I 41 0.028
401
ATS008 Autosomal Dominant Disease 40 0.028
402
ANR009 Aneurysmal Bone Cysts 40 0.028
403
HRT011 Heart Septal Defect 40 0.028
404
HMT018 Hematopoietic Stem Cell Transplantation 40 0.028
405
MYT011 Myotonia 40 0.028
406
TLP001 Talipes Equinovarus 40 0.028
407
EMP001 Empty Sella Syndrome 38 0.028
408
BNR001 Bone Remodeling Disease 38 0.028
409
ADJ001 Adjustment Disorder 38 0.028
410
BDY001 Body Dysmorphic Disorder 38 0.028
411
c ART117 Arthrogryposis, Distal, Type 2b 38 0.028
412
P CYS017 Cystic Teratoma 38 0.028
413
c HYP058 Hypervitaminosis a 37 0.028
414
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 37 0.028
415
P CLB027 Coloboma, Ocular 34 0.028
416
GNT005 Giant Hemangioma 34 0.028
417
P ARC016 Auriculocondylar Syndrome 1 34 0.028
418
CHN065 Choanal Atresia, Posterior 33 0.028
419
c CRN277 Craniosynostosis 2 33 0.028
420
IRS003 Iris Disease 32 0.028
421
AML004 Ameloblastic Carcinoma 31 0.028
422
c STS007 Sotos Syndrome 2 31 0.028
423
OCL034 Oculocerebrocutaneous Syndrome 30 0.028
424
LTM002 Luteoma 29 0.028
425
YNG002 Young Syndrome 29 0.028
426
SPT016 Septopreoptic Holoprosencephaly 29 0.028
427
c RBN008 Rubinstein-Taybi Syndrome 2 28 0.028
428
ENP001 Enophthalmos 27 0.028
429
GMZ002 Gomez-Lopez-Hernandez Syndrome 27 0.028
430
VND005 Van Den Ende-Gupta Syndrome 27 0.028
431
HMR015 Humeroradial Synostosis 26 0.028
432
c PFF009 Pfeiffer Syndrome Type 3 26 0.028
433
RNL105 Renal Agenesis, Unilateral 25 0.028
434
P RTS001 Ritscher-Schinzel Syndrome 25 0.028
435
CRB147 Cerebellofaciodental Syndrome 25 0.028
436
NLX003 Neu-Laxova Syndrome 2 24 0.028
437
c CFF009 Coffin-Siris Syndrome 4 24 0.028
438
c CRN216 Craniosynostosis 5 24 0.028
439
ANG062 Angioosteohypertrophic Syndrome 23 0.028
440
ACR095 Acrofacial Dysostosis, Cincinnati Type 22 0.028
441
c RTS002 Ritscher-Schinzel Syndrome 2 22 0.028
442
CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 21 0.028
443
MXL011 Maxillofacial Dysostosis 15 0.028
444
STN014 Stankiewicz-Isidor Syndrome 12 0.028
445
CRB076 Cerebro Facio Thoracic Dysplasia 8 0.028
446
MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 8 0.028
447
HYP229 Hypospadias Mental Retardation Goldblatt Type 6 0.028
448
KSZ002 Kosztolanyi Syndrome 5 0.028
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