Search results for craniofacial anomalies

444 hits were found for craniofacial anomalies

# Family MCID Name MIFTS Score
1
CRN213 Craniosynostosis with Radiohumeral Fusions and Other Skeletal and Craniofacial Anomalies 16 4.119
2
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 35 3.568
3
CRN210 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 13 3.485
4
GRL004 Gorlin-Chaudhry-Moss Syndrome 23 2.384
5
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 16 2.340
6
3MC003 3mc Syndrome 41 2.314
7
MTC088 Mitochondrial Dna Depletion Syndrome 13 24 2.183
8
RMM001 Rommen Mueller Sybert Syndrome 12 2.183
9
SMS004 Simosa Craniofacial Syndrome 16 1.993
10
CRN275 Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome 6 1.585
11
TBS009 Teebi-Shaltout Syndrome 12 1.567
12
LJN002 Lujan Syndrome 21 1.543
13
c MNT241 Mental Retardation, Autosomal Dominant 32 20 1.543
14
MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 16 1.543
15
HRS002 Hersh Podruch Weisskopk Syndrome 15 1.543
16
HRR001 Harrod Doman Keele Syndrome 4 1.543
17
BKR001 Baker Vinters Syndrome 2 1.543
18
DYS018 Dysostosis 44 0.217
19
CRN051 Craniofacial Microsomia 27 0.209
20
FBR009 Fibrous Dysplasia 45 0.163
21
CLF001 Cleft Lip 50 0.159
22
P CRN037 Craniosynostosis 66 0.148
23
SYN005 Synostosis 46 0.145
24
CRZ001 Crouzon Syndrome 70 0.139
25
PTR006 Peters Anomaly 65 0.131
26
BRT030 Birth Defects 43 0.122
27
ACR041 Acromelic Frontonasal Dysostosis 45 0.115
28
P HLP001 Holoprosencephaly 63 0.111
29
AYM001 Ayme-Gripp Syndrome 41 0.110
30
P ENC008 Encephalocele 48 0.109
31
ALR002 Al-Raqad Syndrome 36 0.103
32
P INT063 Intellectual Disability 49 0.097
33
CRB009 Cerebritis 39 0.096
34
P SHR029 Short Syndrome 58 0.094
35
P MCR010 Microcephaly 58 0.091
36
ECT006 Ectodermal Dysplasia 52 0.091
37
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.087
38
P PLY006 Polydactyly 56 0.087
39
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 32 0.087
40
P CLD001 Cleidocranial Dysplasia 62 0.087
41
P FNC043 Fanconi Anemia, Complementation Group E 55 0.086
42
DWR001 Dwarfism 47 0.083
43
PLG004 Plagiocephaly 43 0.081
44
P CTR002 Cataract 58 0.079
45
MCR103 Microtia 37 0.079
46
P CRV039 Cervicitis 45 0.078
47
P SLP006 Sleep Apnea 61 0.078
48
P KLP003 Klippel-Feil Syndrome 46 0.077
49
P PFF001 Pfeiffer Syndrome 73 0.077
50
RTN023 Retinitis 50 0.076
51
HMF006 Hemifacial Microsomia 55 0.076
52
P LRS001 Larsen Syndrome 51 0.076
53
CLF004 Cleft Lip/palate 46 0.076
54
c BRN108 Branchiootic Syndrome 1 34 0.075
55
SKL014 Skeletal Dysplasia 46 0.075
56
AMN009 Amniotic Band Syndrome 26 0.074
57
VSC047 Vascular Malformation 45 0.074
58
SKL017 Skeletal Dysplasias 45 0.074
59
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 43 0.074
60
P HYP265 Hypotonia 38 0.072
61
BND014 Bone Development Disease 40 0.070
62
ACR002 Acrocapitofemoral Dysplasia 33 0.070
63
P FTL001 Fetal Alcohol Syndrome 53 0.070
64
P BRC006 Brachydactyly 54 0.070
65
TMT003 Temtamy Syndrome 25 0.069
66
OBS061 Obstructive Sleep Apnea 66 0.069
67
P MYP004 Myopathy 67 0.068
68
SNS001 Sensorineural Hearing Loss 57 0.068
69
P ANR002 Aniridia 64 0.066
70
P CRN012 Craniometaphyseal Dysplasia 46 0.065
71
FRY002 Fryns Syndrome 37 0.065
72
P HRT032 Heart Disease 75 0.065
73
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.064
74
LMB014 Limb-Body Wall Complex 20 0.064
75
FCL064 Facial Dysmorphism with Multiple Malformations 23 0.064
76
P TRN020 Turner Syndrome 65 0.064
77
KBG001 Kbg Syndrome 48 0.064
78
CRY002 Cryptorchidism 60 0.062
79
P HMN010 Hemangioma 59 0.062
80
CHR103 Charge Syndrome 62 0.062
81
SMT008 Smith-Magenis Syndrome 52 0.061
82
CRN265 Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development 33 0.061
83
P EPL164 Epilepsy 66 0.061
84
P VLC001 Velocardiofacial Syndrome 62 0.061
85
CHL071 Child Syndrome 58 0.061
86
TTH002 Tooth Agenesis 54 0.061
87
KDS001 Kid Syndrome 53 0.061
88
CDS002 Codas Syndrome 37 0.061
89
IMG001 Image Syndrome 50 0.060
90
P SLV001 Silver-Russell Syndrome 54 0.060
91
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.060
92
HYP077 Hypertrichosis 44 0.059
93
MCR013 Microphthalmia 60 0.059
94
BLP004 Blepharophimosis 38 0.059
95
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 57 0.058
96
GRW007 Growth Hormone Deficiency 50 0.057
97
P TRC072 Treacher Collins Syndrome 1 52 0.057
98
PTC001 Potocki-Shaffer Syndrome 36 0.057
99
CPL007 Capillary Malformation-Arteriovenous Malformation 40 0.056
100
P HYP040 Hypospadias 57 0.055
101
P BLD124 Bleeding Disorder, Platelet-Type, 11 40 0.055
102
P TRT010 Teratoma 52 0.055
103
P NRF002 Neurofibromatosis 71 0.054
104
DWN001 Down Syndrome 66 0.054
105
APR006 Apert Syndrome 67 0.053
106
FCL011 Facial Nerve Disease 36 0.053
107
GNC005 Geniculate Ganglionitis 27 0.053
108
c TRC073 Treacher Collins Syndrome 2 23 0.053
109
DPR014 Diprosopus 18 0.053
110
CRD002 Cri-Du-Chat Syndrome 48 0.053
111
NRL016 Neural Tube Defects 76 0.053
112
P HPT021 Hepatitis 69 0.053
113
P HYD006 Hydrocephalus 66 0.053
114
P SYN001 Syndactyly 53 0.053
115
ACH004 Achondroplasia 66 0.052
116
NRM005 Neuromuscular Disease 56 0.052
117
FCL012 Facial Paralysis 50 0.052
118
PHR003 Pharyngitis 56 0.052
119
BWN001 Bowen-Conradi Syndrome 44 0.052
120
P ARC016 Auriculocondylar Syndrome 1 40 0.052
121
VSC008 Vascular Hemostatic Disease 30 0.052
122
P MSC005 Muscular Dystrophy 65 0.052
123
OMP004 Omphalocele 50 0.052
124
P RBN001 Rubinstein-Taybi Syndrome 64 0.051
125
P HYP086 Hypothyroidism 64 0.051
126
P STH001 Saethre-Chotzen Syndrome 60 0.051
127
ELL001 Ellis-Van Creveld Syndrome 58 0.051
128
P STR020 Strabismus 51 0.051
129
ANR040 Aneurysm 57 0.050
130
P PTN002 Patent Ductus Arteriosus 52 0.050
131
P SNS014 Sinusitis 60 0.050
132
WLL006 Wells Syndrome 59 0.050
133
P HYP035 Hypophosphatasia 57 0.050
134
CFF002 Coffin-Lowry Syndrome 55 0.050
135
CLF027 Cleft Palate, Isolated 55 0.050
136
P AML002 Amelogenesis Imperfecta 45 0.050
137
NSP002 Nasopharyngitis 40 0.050
138
P NRB001 Neuroblastoma 70 0.050
139
c CNG006 Congenital Hypothyroidism 60 0.050
140
AGN012 Agnathia-Otocephaly Complex 53 0.050
141
CCN007 Cocoon Syndrome 45 0.050
142
CNG065 Congenital Contractures 29 0.050
143
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 28 0.050
144
SHR073 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 20 0.050
145
P DGR001 Digeorge Syndrome 53 0.049
146
P DNR001 Duane Retraction Syndrome 41 0.049
147
SCR035 Sacral Agenesis with Vertebral Anomalies 30 0.049
148
AND005 Androgen Insensitivity Syndrome, Mild 16 0.049
149
TTH006 Tooth Disease 52 0.049
150
HDN002 Head Injury 45 0.049
151
LTR012 Lateral Facial Dysplasia 11 0.049
152
P EHL001 Ehlers-Danlos Syndrome 63 0.048
153
GNG013 Gingivitis 61 0.048
154
ANN002 Anencephaly 54 0.048
155
P SMP003 Simpson-Golabi-Behmel Syndrome 51 0.048
156
ANT003 Antley-Bixler Syndrome 48 0.048
157
PRD011 Proud Syndrome 42 0.048
158
PLC008 Placenta Disease 33 0.048
159
RNL078 Renal Dysplasia 45 0.048
160
GNT031 Genitopatellar Syndrome 39 0.048
161
CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 19 0.048
162
CST001 Costello Syndrome 68 0.047
163
P WVR001 Weaver Syndrome 56 0.047
164
INT075 Intracranial Hypertension 50 0.047
165
P RTS001 Ritscher-Schinzel Syndrome 42 0.047
166
SMT004 Smith-Lemli-Opitz Syndrome 66 0.046
167
GGN002 Gigantism 32 0.046
168
P LYM118 Lymphoma 69 0.046
169
LPM004 Lipoma 60 0.046
170
P DST002 Distal Arthrogryposis 56 0.046
171
WLF002 Wolf-Hirschhorn Syndrome 49 0.046
172
ADR038 Adermatoglyphia 46 0.046
173
ACR058 Acrofacial Dysostosis 1, Nager Type 38 0.046
174
BNS002 Bone Structure Disease 37 0.046
175
P KDN018 Kidney Disease 66 0.045
176
THR013 Thoracic Outlet Syndrome 50 0.045
177
P SCL047 Sclerocornea 27 0.045
178
P OST005 Osteogenesis Imperfecta 69 0.043
179
OST015 Osteochondrodysplasia 52 0.043
180
ARS001 Aarskog-Scott Syndrome 52 0.043
181
P FRN012 Frontometaphyseal Dysplasia 46 0.043
182
ACD009 Acid-Labile Subunit, Deficiency of 45 0.043
183
MSC004 Muscle Tissue Disease 34 0.043
184
c PRX055 Peroxisome Biogenesis Disorder 11a 31 0.043
185
ANX002 Anxiety Disorder 67 0.043
186
P RBN002 Robinow Syndrome 49 0.043
187
HYP068 Hyperostosis 40 0.043
188
HMF010 Hemifacial Microsomia with Radial Defects 21 0.043
189
P PTS002 Ptosis 51 0.043
190
CRN248 Craniofrontonasal Dysplasia 45 0.043
191
STB002 Satb2-Associated Syndrome 20 0.043
192
P BRD002 Bardet-Biedl Syndrome 63 0.041
193
CNN005 Connective Tissue Disease 62 0.041
194
P BCK002 Beckwith-Wiedemann Syndrome 56 0.041
195
P SCL018 Scoliosis 55 0.041
196
BLD053 Blood Platelet Disease 46 0.041
197
SPN369 Spinal Disease 39 0.041
198
c HLP009 Holoprosencephaly-9 25 0.041
199
P PRD008 Periodontitis 63 0.041
200
FBR011 Fibrodysplasia Ossificans Progressiva 62 0.041
201
c CNT035 Central Nervous System Disease 60 0.041
202
HDC001 Headache 54 0.041
203
SCT005 Scott Syndrome 53 0.041
204
P HLL001 Hallermann-Streiff Syndrome 53 0.041
205
PYC001 Pycnodysostosis 48 0.041
206
FSC004 Fasciitis 48 0.041
207
P CRN035 Cranial Nerve Palsy 46 0.041
208
GDS001 Good Syndrome 44 0.041
209
RNS001 Raine Syndrome 40 0.041
210
c DMN023 Diamond-Blackfan Anemia 1 38 0.041
211
P ORF002 Orofacial Cleft 38 0.041
212
ABR009 Abruzzo-Erickson Syndrome 38 0.041
213
NSY001 N Syndrome 36 0.041
214
TTR016 Tetra-Amelia Syndrome 36 0.041
215
c DMN021 Diamond-Blackfan Anemia 6 35 0.041
216
c DMN017 Diamond-Blackfan Anemia 10 29 0.041
217
c DMN006 Diamond-Blackfan Anemia 3 29 0.041
218
c DMN018 Diamond-Blackfan Anemia 5 29 0.041
219
c PRX060 Peroxisome Biogenesis Disorder 5a 29 0.041
220
c DMN024 Diamond-Blackfan Anemia 7 28 0.041
221
c PRX063 Peroxisome Biogenesis Disorder 2a 28 0.041
222
c PRX065 Peroxisome Biogenesis Disorder 3a 28 0.041
223
c DMN019 Diamond-Blackfan Anemia 4 27 0.041
224
c DMN029 Diamond-Blackfan Anemia 11 27 0.041
225
c DMN028 Diamond-Blackfan Anemia 12 27 0.041
226
c DMN022 Diamond-Blackfan Anemia 9 26 0.041
227
c DMN020 Diamond-Blackfan Anemia 8 26 0.041
228
c PRX054 Peroxisome Biogenesis Disorder 12a 25 0.041
229
c PRX057 Peroxisome Biogenesis Disorder 4a 25 0.041
230
c PRX061 Peroxisome Biogenesis Disorder 8a, 25 0.041
231
P PRX051 Peroxisome Biogenesis Disorder 6a 25 0.041
232
c PRX052 Peroxisome Biogenesis Disorder 13a 24 0.041
233
c PRX046 Peroxisome Biogenesis Disorder 7a 24 0.041
234
c PRX048 Peroxisome Biogenesis Disorder 10a 24 0.041
235
OCC011 Occipital Encephalocele 24 0.041
236
c ARC011 Auriculocondylar Syndrome 2 18 0.041
237
c ARC017 Auriculocondylar Syndrome 3 16 0.041
238
WLL001 Williams-Beuren Syndrome 60 0.040
239
PRR016 Pierre Robin Syndrome 50 0.040
240
P LSS002 Lissencephaly 49 0.040
241
CRB045 Cerebellar Hypoplasia 48 0.040
242
SKN023 Skin Tag 44 0.040
243
SPS057 Spasticity 42 0.040
244
WBR001 Weber Syndrome 41 0.040
245
LRY029 Laryngomalacia 40 0.040
246
EMN001 Emanuel Syndrome 36 0.040
247
PRB002 Proboscis Lateralis 13 0.040
248
ISL075 Isolated Pierre Robin Sequence 12 0.040
249
P MYL005 Myelofibrosis 67 0.038
250
P CTS001 Cutis Laxa 58 0.038
251
ACN002 Acanthosis Nigricans 57 0.038
252
KLP010 Klippel-Trenaunay-Weber Syndrome 54 0.038
253
P HYP024 Hypoparathyroidism 53 0.038
254
ANK001 Ankylosis 51 0.038
255
MBS002 Moebius Syndrome 47 0.038
256
P MWT001 Mowat-Wilson Syndrome 46 0.038
257
END072 Endotheliitis 42 0.038
258
DBW001 Dubowitz Syndrome 41 0.038
259
ATS010 Autosomal Recessive Disease 41 0.038
260
CRP010 Corpus Callosum Agenesis 38 0.038
261
c KLP009 Klippel-Feil Syndrome 2 21 0.038
262
MDL016 Midline Cervical Cleft 18 0.038
263
PRG122 Prognathism, Mandibular 18 0.038
264
P FRG001 Fragile X Syndrome 69 0.037
265
CTS003 Coats Disease 57 0.037
266
PRP019 Peripheral Nervous System Disease 55 0.037
267
P MSC033 Muscle Disorders 52 0.037
268
VND002 Van Der Woude Syndrome 50 0.037
269
MGR028 Migraine with or Without Aura 1 47 0.037
270
P NML001 Nemaline Myopathy 47 0.037
271
SPH001 Sapho Syndrome 46 0.037
272
JHN001 Johanson-Blizzard Syndrome 46 0.037
273
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 41 0.037
274
CRN031 Cranial Nerve Disease 40 0.037
275
c PRX059 Peroxisome Biogenesis Disorder 1a 39 0.037
276
MN1001 Mn1 30 0.037
277
c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 26 0.037
278
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 26 0.037
279
c FRN037 Frontal Encephalocele 20 0.037
280
ALG026 Al-Gazali Syndrome 16 0.037
281
P RTN008 Retinitis Pigmentosa 80 0.035
282
STR067 Stroke, Ischemic 75 0.035
283
P NRV007 Nervous System Disease 71 0.035
284
P MNN013 Meningitis 67 0.035
285
SKN016 Skin Disease 66 0.035
286
BSL036 Basal Cell Nevus Syndrome 65 0.035
287
MTH009 Mouth Disease 61 0.035
288
KRN002 Kearns-Sayre Syndrome 61 0.035
289
P CNG015 Congenital Diaphragmatic Hernia 60 0.035
290
P ENC018 Encephalopathy 59 0.035
291
P NRP001 Neuropathy 59 0.035
292
RSP006 Respiratory System Disease 58 0.035
293
ADN018 Adenoma 58 0.035
294
P MYP006 Myopia 56 0.035
295
P LPR002 Leopard Syndrome 55 0.035
296
URB001 Urbach-Wiethe Disease 49 0.035
297
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 47 0.035
298
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 42 0.035
299
HMH002 Hemihypertrophy 41 0.035
300
P HMF004 Hemifacial Spasm 39 0.035
301
SPC003 Specific Developmental Disorder 38 0.035
302
c HLP011 Holoprosencephaly-7 31 0.035
303
CTS011 Cutis Marmorata Telangiectatica Congenita 30 0.035
304
ANK008 Ankyloglossia 29 0.035
305
c EHL043 Ehlers-Danlos Syndrome, Progeroid Type, 1 27 0.035
306
SPR031 Sprengel Deformity 23 0.035
307
c CRD167 Cardiofaciocutaneous Syndrome 4 23 0.035
308
3MC001 3mc Syndrome 2 22 0.035
309
BNR002 Bone Resorption Disease 21 0.035
310
MNN022 Meningoencephalocele 20 0.035
311
INS024 Insulin-Like Growth Factor I 75 0.032
312
PCK002 Pick Disease 68 0.032
313
c NRF018 Neurofibromatosis, Type 1 67 0.032
314
P PSR002 Psoriasis 61 0.032
315
P MCP010 Mucopolysaccharidosis 60 0.032
316
RHM027 Rheumatic Disease 58 0.032
317
P SCK004 Seckel Syndrome 54 0.032
318
c PRX045 Peroxisome Biogenesis Disorder 1b 52 0.032
319
BLL001 Baller-Gerold Syndrome 51 0.032
320
P FTL009 Fetal Akinesia Deformation Sequence 50 0.032
321
RNP001 Renpenning Syndrome 47 0.032
322
UPP004 Upper Respiratory Tract Disease 46 0.032
323
c ORF037 Orofaciodigital Syndrome I 46 0.032
324
P DYS021 Dysautonomia 44 0.032
325
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 42 0.032
326
DST004 Distal Muscular Dystrophy 40 0.032
327
MYH012 Myhre Syndrome 38 0.032
328
ANG037 Angiomatosis 37 0.032
329
P PRK003 Parkes Weber Syndrome 37 0.032
330
HMF008 Hemifacial Atrophy, Progressive 36 0.032
331
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 31 0.032
332
IRS003 Iris Disease 31 0.032
333
SPT016 Septopreoptic Holoprosencephaly 29 0.032
334
LYM035 Lymphangiectasis 28 0.032
335
OCL034 Oculocerebrocutaneous Syndrome 27 0.032
336
P DMN036 Diamond Blackfan Anemia 15 with Mandibulofacial Dysostosis 26 0.032
337
CHR367 Chromosome 7q11.23 Duplication Syndrome 24 0.032
338
EYC003 Eye Accommodation Disease 24 0.032
339
c CRD164 Cardiofaciocutaneous Syndrome 3 23 0.032
340
c DMN030 Diamond-Blackfan Anemia 13 20 0.032
341
c DMN037 Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis 15 0.032
342
DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 10 0.032
343
BNJ001 Benjamin Syndrome 9 0.032
344
P OST012 Osteoarthritis 83 0.029
345
SQM006 Squamous Cell Carcinoma 70 0.029
346
P CLC005 Celiac Disease 68 0.029
347
c BSL007 Basal Cell Carcinoma 65 0.029
348
P LNG028 Long Qt Syndrome 64 0.029
349
P LBR001 Leber Congenital Amaurosis 61 0.029
350
MNK003 Muenke Syndrome 60 0.029
351
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.029
352
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 58 0.029
353
P MYS005 Myositis 57 0.029
354
CMP005 Campomelic Dysplasia 55 0.029
355
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 55 0.029
356
P TMT001 Timothy Syndrome 55 0.029
357
c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 54 0.029
358
THR100 Thrombocytopenic Purpura, Autoimmune 54 0.029
359
SHP002 Shprintzen-Goldberg Syndrome 53 0.029
360
P PLY014 Polycystic Kidney Disease 53 0.029
361
P DBT005 Diabetes Insipidus 53 0.029
362
NRF007 Neurofibroma 53 0.029
363
CYS010 Cystinosis 53 0.029
364
GRG001 Greig Cephalopolysyndactyly Syndrome 51 0.029
365
P LMB006 Limb-Girdle Muscular Dystrophy 51 0.029
366
c PLY060 Polycystic Kidney Disease 2 51 0.029
367
SCK005 Sickle Cell Disease 51 0.029
368
BNF002 Bone Fracture 50 0.029
369
P HMC002 Homocystinuria 50 0.029
370
CSY001 C Syndrome 50 0.029
371
MVM001 Movement Disease 49 0.029
372
MND007 Mandibuloacral Dysplasia 49 0.029
373
MRS002 Marshall Syndrome 49 0.029
374
JCK001 Jackson-Weiss Syndrome 49 0.029
375
P KRT007 Keratoconus 48 0.029
376
P CRN108 Cranioectodermal Dysplasia 1 48 0.029
377
c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 47 0.029
378
PRT030 Parathyroid Gland Disease 47 0.029
379
OST044 Osteoglophonic Dysplasia 47 0.029
380
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 47 0.029
381
P SYR001 Syringomyelia 47 0.029
382
ADR008 Adrenal Adenoma 47 0.029
383
P BTH005 Bethlem Myopathy 1 46 0.029
384
P MTH007 Methemoglobinemia 45 0.029
385
DRM013 Dermoid Cyst 44 0.029
386
BNN003 Bone Inflammation Disease 44 0.029
387
c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 44 0.029
388
MLB001 Mulibrey Nanism 43 0.029
389
c MSC114 Muscular Dystrophy, Limb-Girdle, Type 2e 43 0.029
390
AND001 Anodontia 43 0.029
391
SKN027 Skin Conditions 43 0.029
392
c RTN087 Retinal Degeneration, Late-Onset, Autosomal Dominant 43 0.029
393
c MSC123 Muscular Dystrophy, Limb-Girdle, Type 2d 43 0.029
394
MTR010 Mature Teratoma 42 0.029
395
c CLD010 Cold-Induced Sweating Syndrome 1 42 0.029
396
P MYS033 Miyoshi Muscular Dystrophy 1 42 0.029
397
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 42 0.029
398
VHW001 Vohwinkel Syndrome 41 0.029
399
c MSC119 Muscular Dystrophy, Limb-Girdle, Type 2h 41 0.029
400
HMT018 Hematopoietic Stem Cell Transplantation 41 0.029
401
ANR009 Aneurysmal Bone Cysts 41 0.029
402
SPC005 Speech Disorder 41 0.029
403
FTL021 Fetal Macrosomia 41 0.029
404
P CYS017 Cystic Teratoma 40 0.029
405
ADT003 Auditory System Disease 40 0.029
406
EMP001 Empty Sella Syndrome 40 0.029
407
ATS008 Autosomal Dominant Disease 39 0.029
408
c HYP058 Hypervitaminosis a 39 0.029
409
BDY001 Body Dysmorphic Disorder 39 0.029
410
TMP012 Temple Syndrome 38 0.029
411
CLP001 Calpainopathy 36 0.029
412
c MSC122 Muscular Dystrophy, Limb-Girdle, Type 2g 36 0.029
413
NRL018 Neural Tube Defects, Folate-Sensitive 36 0.029
414
MYT011 Myotonia 36 0.029
415
CHN065 Choanal Atresia, Posterior 35 0.029
416
GNT005 Giant Hemangioma 35 0.029
417
ALB014 Alobar Holoprosencephaly 35 0.029
418
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 35 0.029
419
P CLB027 Coloboma, Ocular 35 0.029
420
c RBN008 Rubinstein-Taybi Syndrome 2 34 0.029
421
DYS030 Dysferlinopathy 33 0.029
422
c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 31 0.029
423
c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 30 0.029
424
MRG013 Mirage Syndrome 29 0.029
425
ENP001 Enophthalmos 28 0.029
426
c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 27 0.029
427
DFN003 Deafness and Hereditary Hearing Loss 26 0.029
428
CRT065 Cortisone Reductase Deficiency 1 26 0.029
429
HRN022 Hearing Loss/deafness 26 0.029
430
YNG002 Young Syndrome 26 0.029
431
c KRT029 Keratoconus 1 26 0.029
432
VND005 Van Den Ende-Gupta Syndrome 24 0.029
433
c SPS031 Spastic Paraplegia 23 24 0.029
434
HMM004 Hamamy Syndrome 22 0.029
435
NLX003 Neu-Laxova Syndrome 2 22 0.029
436
c CRN216 Craniosynostosis 5 22 0.029
437
c PFF009 Pfeiffer Syndrome Type 3 22 0.029
438
ACR095 Acrofacial Dysostosis, Cincinnati Type 20 0.029
439
CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 19 0.029
440
OCL044 Oculo-Auriculo-Vertebral Spectrum 18 0.029
441
BSL042 Basilar Impression, Primary 17 0.029
442
XLN215 X-Linked Congenital Generalized Hypertrichosis 16 0.029
443
MXL011 Maxillofacial Dysostosis 12 0.029
444
CRB076 Cerebro Facio Thoracic Dysplasia 8 0.029
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