Search results for "craniofacial anomalies"

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

401 hits were found for 'craniofacial anomalies'

# Family MCID Name MIFTS Score
1
CRN213 Craniosynostosis with Radiohumeral Fusions and Other Skeletal and Craniofacial Anomalies 16 4.146
2
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 36 3.590
3
CRN210 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 13 3.508
4
3MC002 3mc Syndrome 1 40 2.545
5
GRL004 Gorlin-Chaudhry-Moss Syndrome 22 2.390
6
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 16 2.356
7
MTC088 Mitochondrial Dna Depletion Syndrome 13 24 2.196
8
RMM001 Rommen Mueller Sybert Syndrome 12 2.196
9
SMS004 Simosa Craniofacial Syndrome 16 2.006
10
CRN275 Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome 6 1.597
11
TBS009 Teebi-Shaltout Syndrome 15 1.578
12
LJN002 Lujan Syndrome 22 1.553
13
c MNT241 Mental Retardation, Autosomal Dominant 32 20 1.553
14
MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 16 1.553
15
HRS002 Hersh Podruch Weisskopk Syndrome 15 1.553
16
HRR001 Harrod Doman Keele Syndrome 4 1.553
17
BKR001 Baker Vinters Syndrome 2 1.553
18
DYS018 Dysostosis 44 0.227
19
CRN051 Craniofacial Microsomia 25 0.211
20
FBR009 Fibrous Dysplasia 44 0.169
21
CLF001 Cleft Lip 49 0.166
22
P CRN037 Craniosynostosis 65 0.153
23
SYN005 Synostosis 45 0.150
24
CRZ001 Crouzon Syndrome 70 0.144
25
PTR006 Peters Anomaly 64 0.136
26
BRT030 Birth Defects 43 0.129
27
AYM001 Ayme-Gripp Syndrome 45 0.123
28
ACR041 Acromelic Frontonasal Dysostosis 46 0.121
29
P HLP001 Holoprosencephaly 62 0.116
30
P ENC008 Encephalocele 47 0.114
31
ALR002 Al-Raqad Syndrome 36 0.105
32
P INT063 Intellectual Disability 53 0.102
33
CRB009 Cerebritis 38 0.102
34
P SHR029 Short Syndrome 60 0.101
35
ECT006 Ectodermal Dysplasia 47 0.095
36
P CLD001 Cleidocranial Dysplasia 62 0.091
37
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 34 0.091
38
P PLY006 Polydactyly 55 0.091
39
P MCR010 Microcephaly 58 0.091
40
DWR001 Dwarfism 46 0.088
41
PLG004 Plagiocephaly 42 0.084
42
P CTR002 Cataract 57 0.084
43
P CRV039 Cervicitis 44 0.083
44
P PFF001 Pfeiffer Syndrome 73 0.082
45
P SLP006 Sleep Apnea 61 0.082
46
CLF004 Cleft Lip/palate 46 0.081
47
P KLP003 Klippel-Feil Syndrome 46 0.080
48
P LRS001 Larsen Syndrome 51 0.080
49
HMF006 Hemifacial Microsomia 54 0.080
50
RTN023 Retinitis 49 0.079
51
MCR103 Microtia 37 0.078
52
c BRN108 Branchiootic Syndrome 1 36 0.078
53
AMN009 Amniotic Band Syndrome 25 0.078
54
SKL014 Skeletal Dysplasia 46 0.078
55
VSC047 Vascular Malformation 45 0.076
56
SKL017 Skeletal Dysplasias 45 0.076
57
P FTL001 Fetal Alcohol Syndrome 53 0.076
58
P HYP265 Hypotonia 39 0.075
59
P BRC006 Brachydactyly 52 0.074
60
OBS061 Obstructive Sleep Apnea 66 0.072
61
TMT003 Temtamy Syndrome 26 0.072
62
BND014 Bone Development Disease 42 0.072
63
SNS001 Sensorineural Hearing Loss 57 0.071
64
KDS001 Kid Syndrome 53 0.070
65
ACR002 Acrocapitofemoral Dysplasia 36 0.070
66
ANR002 Aniridia 60 0.070
67
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.070
68
FRY002 Fryns Syndrome 36 0.069
69
P HMN010 Hemangioma 60 0.068
70
CHL071 Child Syndrome 58 0.068
71
P HRT032 Heart Disease 76 0.068
72
P CRN012 Craniometaphyseal Dysplasia 47 0.068
73
LMB014 Limb-Body Wall Complex 23 0.067
74
P TRN020 Turner Syndrome 64 0.067
75
KBG001 Kbg Syndrome 49 0.067
76
CHR103 Charge Syndrome 64 0.066
77
P EPL164 Epilepsy 66 0.066
78
CRY002 Cryptorchidism 62 0.066
79
MCR013 Microphthalmia 59 0.065
80
P VLC001 Velocardiofacial Syndrome 62 0.065
81
SMT008 Smith-Magenis Syndrome 51 0.065
82
CDS002 Codas Syndrome 40 0.064
83
CRN265 Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development 34 0.064
84
FCL064 Facial Dysmorphism with Multiple Malformations 26 0.064
85
IMG001 Image Syndrome 55 0.063
86
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.063
87
TTH002 Tooth Agenesis 55 0.063
88
BLP004 Blepharophimosis 39 0.062
89
P MYP004 Myopathy 67 0.061
90
GRW007 Growth Hormone Deficiency 48 0.060
91
P SLV001 Silver-Russell Syndrome 54 0.060
92
P TRC072 Treacher Collins Syndrome 1 52 0.060
93
PTC001 Potocki-Shaffer Syndrome 36 0.060
94
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 29 0.059
95
P TRT010 Teratoma 52 0.058
96
CPL007 Capillary Malformation-Arteriovenous Malformation 41 0.058
97
P MSC005 Muscular Dystrophy 64 0.057
98
P HYP040 Hypospadias 57 0.057
99
DWN001 Down Syndrome 65 0.057
100
SKN023 Skin Tag 46 0.057
101
P HPT021 Hepatitis 70 0.056
102
P HYD006 Hydrocephalus 67 0.056
103
OMP004 Omphalocele 50 0.056
104
P HYP086 Hypothyroidism 65 0.056
105
HYP077 Hypertrichosis 52 0.056
106
CRD002 Cri-Du-Chat Syndrome 48 0.056
107
APR006 Apert Syndrome 66 0.056
108
c TRC073 Treacher Collins Syndrome 2 23 0.056
109
DPR014 Diprosopus 17 0.056
110
NRL016 Neural Tube Defects 76 0.055
111
ANR040 Aneurysm 57 0.055
112
PHR003 Pharyngitis 58 0.055
113
ADR038 Adermatoglyphia 48 0.055
114
BWN001 Bowen-Conradi Syndrome 45 0.055
115
ACH004 Achondroplasia 66 0.055
116
c BLD124 Bleeding Disorder, Platelet-Type, 11 42 0.055
117
P RBN001 Rubinstein-Taybi Syndrome 65 0.054
118
c CNG006 Congenital Hypothyroidism 59 0.054
119
P STH001 Saethre-Chotzen Syndrome 59 0.054
120
ELL001 Ellis-Van Creveld Syndrome 57 0.054
121
P PTN002 Patent Ductus Arteriosus 52 0.054
122
CCN007 Cocoon Syndrome 35 0.052
123
CNG065 Congenital Contractures 29 0.052
124
SHR073 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 20 0.052
125
CST001 Costello Syndrome 69 0.052
126
CLF027 Cleft Palate, Isolated 56 0.052
127
CFF002 Coffin-Lowry Syndrome 55 0.052
128
P ARC016 Auriculocondylar Syndrome 1 44 0.052
129
P AML002 Amelogenesis Imperfecta 43 0.052
130
NSP002 Nasopharyngitis 41 0.052
131
VSC008 Vascular Hemostatic Disease 33 0.052
132
AND005 Androgen Insensitivity Syndrome, Mild 16 0.052
133
HTC002 Hutchinson-Gilford Progeria 62 0.051
134
TTH006 Tooth Disease 52 0.051
135
FCL012 Facial Paralysis 50 0.051
136
HDN002 Head Injury 45 0.051
137
FBR054 Fibroma 43 0.051
138
LTR012 Lateral Facial Dysplasia 11 0.051
139
P DGR001 Digeorge Syndrome 52 0.051
140
RNL078 Renal Dysplasia 45 0.051
141
SCR035 Sacral Agenesis with Vertebral Anomalies 33 0.051
142
P NRB001 Neuroblastoma 69 0.050
143
P EHL001 Ehlers-Danlos Syndrome 61 0.050
144
P STR020 Strabismus 53 0.050
145
PLC008 Placenta Disease 36 0.050
146
P SNS014 Sinusitis 60 0.049
147
INT075 Intracranial Hypertension 53 0.049
148
P WVR001 Weaver Syndrome 51 0.049
149
SMT004 Smith-Lemli-Opitz Syndrome 67 0.049
150
GNT031 Genitopatellar Syndrome 39 0.049
151
GGN002 Gigantism 27 0.049
152
P LYM118 Lymphoma 70 0.048
153
GNG013 Gingivitis 60 0.048
154
LPM004 Lipoma 58 0.048
155
AGN012 Agnathia-Otocephaly Complex 54 0.048
156
ANN002 Anencephaly 52 0.048
157
WLF002 Wolf-Hirschhorn Syndrome 45 0.048
158
PRD011 Proud Syndrome 42 0.048
159
P FRN012 Frontometaphyseal Dysplasia 38 0.048
160
ACR058 Acrofacial Dysostosis 1, Nager Type 36 0.048
161
P SCL047 Sclerocornea 26 0.048
162
P PTS002 Ptosis 56 0.046
163
CRN248 Craniofrontonasal Dysplasia 45 0.046
164
P OST005 Osteogenesis Imperfecta 67 0.046
165
OST015 Osteochondrodysplasia 53 0.046
166
ARS001 Aarskog-Scott Syndrome 52 0.046
167
SCT005 Scott Syndrome 50 0.046
168
P EHL043 Ehlers-Danlos Syndrome, Progeroid Type, 1 38 0.046
169
ANX002 Anxiety Disorder 69 0.045
170
HYP068 Hyperostosis 40 0.045
171
P RTS001 Ritscher-Schinzel Syndrome 32 0.045
172
HMF010 Hemifacial Microsomia with Radial Defects 21 0.045
173
P BRD002 Bardet-Biedl Syndrome 62 0.044
174
P BCK002 Beckwith-Wiedemann Syndrome 56 0.044
175
P LSS002 Lissencephaly 49 0.044
176
ENC010 Encephalocraniocutaneous Lipomatosis 34 0.044
177
FBR011 Fibrodysplasia Ossificans Progressiva 62 0.043
178
c CNT035 Central Nervous System Disease 59 0.043
179
WLL006 Wells Syndrome 56 0.043
180
HDC001 Headache 54 0.043
181
P HLL001 Hallermann-Streiff Syndrome 53 0.043
182
PYC001 Pycnodysostosis 49 0.043
183
ACD009 Acid-Labile Subunit, Deficiency of 48 0.043
184
ECT078 Ectodermal Dysplasia 2, Clouston Type 45 0.043
185
RNS001 Raine Syndrome 39 0.043
186
NSY001 N Syndrome 39 0.043
187
P ORF002 Orofacial Cleft 38 0.043
188
c DMN023 Diamond-Blackfan Anemia 1 38 0.043
189
BNS002 Bone Structure Disease 36 0.043
190
c DMN021 Diamond-Blackfan Anemia 6 36 0.043
191
TTR016 Tetra-Amelia Syndrome 36 0.043
192
MYH012 Myhre Syndrome 35 0.043
193
c PRX055 Peroxisome Biogenesis Disorder 11a 32 0.043
194
c DMN006 Diamond-Blackfan Anemia 3 30 0.043
195
c DMN017 Diamond-Blackfan Anemia 10 30 0.043
196
c DMN018 Diamond-Blackfan Anemia 5 29 0.043
197
c DMN024 Diamond-Blackfan Anemia 7 28 0.043
198
c PRX060 Peroxisome Biogenesis Disorder 5a 28 0.043
199
c PRX065 Peroxisome Biogenesis Disorder 3a 28 0.043
200
c DMN019 Diamond-Blackfan Anemia 4 28 0.043
201
c PRX063 Peroxisome Biogenesis Disorder 2a 27 0.043
202
c DMN028 Diamond-Blackfan Anemia 12 27 0.043
203
c DMN022 Diamond-Blackfan Anemia 9 27 0.043
204
c DMN029 Diamond-Blackfan Anemia 11 27 0.043
205
c DMN020 Diamond-Blackfan Anemia 8 27 0.043
206
c PRX057 Peroxisome Biogenesis Disorder 4a 25 0.043
207
c PRX061 Peroxisome Biogenesis Disorder 8a, 25 0.043
208
c PRX054 Peroxisome Biogenesis Disorder 12a 25 0.043
209
P PRX051 Peroxisome Biogenesis Disorder 6a 25 0.043
210
c PRX046 Peroxisome Biogenesis Disorder 7a 24 0.043
211
c PRX048 Peroxisome Biogenesis Disorder 10a 24 0.043
212
c PRX052 Peroxisome Biogenesis Disorder 13a 24 0.043
213
OCC011 Occipital Encephalocele 23 0.043
214
c ARC011 Auriculocondylar Syndrome 2 18 0.043
215
c ARC017 Auriculocondylar Syndrome 3 15 0.043
216
WLL001 Williams-Beuren Syndrome 61 0.042
217
CNN005 Connective Tissue Disease 61 0.042
218
P SCL018 Scoliosis 56 0.042
219
PRR016 Pierre Robin Syndrome 49 0.042
220
CRB045 Cerebellar Hypoplasia 48 0.042
221
SPS057 Spasticity 42 0.042
222
LRY029 Laryngomalacia 39 0.042
223
WBR001 Weber Syndrome 37 0.042
224
c OTP006 Otopalatodigital Syndrome, Type I 36 0.042
225
MLN014 Melnick-Needles Syndrome 35 0.042
226
EMN001 Emanuel Syndrome 33 0.042
227
PRB002 Proboscis Lateralis 13 0.042
228
ISL075 Isolated Pierre Robin Sequence 12 0.042
229
SKN016 Skin Disease 68 0.040
230
P CTS001 Cutis Laxa 59 0.040
231
ADN018 Adenoma 59 0.040
232
ACN002 Acanthosis Nigricans 57 0.040
233
ANK001 Ankylosis 52 0.040
234
P HYP024 Hypoparathyroidism 52 0.040
235
RNP001 Renpenning Syndrome 48 0.040
236
DBW001 Dubowitz Syndrome 46 0.040
237
P MWT001 Mowat-Wilson Syndrome 46 0.040
238
END072 Endotheliitis 42 0.040
239
SPN369 Spinal Disease 41 0.040
240
CRP010 Corpus Callosum Agenesis 40 0.040
241
c OTP007 Otopalatodigital Syndrome, Type Ii 37 0.040
242
c HLP009 Holoprosencephaly-9 24 0.040
243
SPR031 Sprengel Deformity 23 0.040
244
c KLP009 Klippel-Feil Syndrome 2 21 0.040
245
PRG122 Prognathism, Mandibular 19 0.040
246
MDL016 Midline Cervical Cleft 19 0.040
247
P FRG001 Fragile X Syndrome 68 0.039
248
P OCL013 Oculodentodigital Dysplasia 59 0.039
249
CTS003 Coats Disease 57 0.039
250
MVM001 Movement Disease 54 0.039
251
VND002 Van Der Woude Syndrome 51 0.039
252
MRS002 Marshall Syndrome 50 0.039
253
MGR028 Migraine with or Without Aura 1 50 0.039
254
P CLL015 Collagen Disease 49 0.039
255
P PRD008 Periodontitis 46 0.039
256
FSC004 Fasciitis 46 0.039
257
JHN001 Johanson-Blizzard Syndrome 46 0.039
258
ABR009 Abruzzo-Erickson Syndrome 40 0.039
259
JVN033 Juvenile Nasopharyngeal Angiofibroma 39 0.039
260
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 38 0.039
261
MN1001 Mn1 31 0.039
262
INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 29 0.039
263
c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 26 0.039
264
c FRN037 Frontal Encephalocele 20 0.039
265
ALG026 Al-Gazali Syndrome 16 0.039
266
STR067 Stroke, Ischemic 77 0.037
267
P MYL005 Myelofibrosis 67 0.037
268
P MYP006 Myopia 59 0.037
269
P ENC018 Encephalopathy 59 0.037
270
P CNG015 Congenital Diaphragmatic Hernia 58 0.037
271
KLP010 Klippel-Trenaunay-Weber Syndrome 54 0.037
272
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 47 0.037
273
MBS002 Moebius Syndrome 44 0.037
274
VHW001 Vohwinkel Syndrome 41 0.037
275
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 40 0.037
276
HMH002 Hemihypertrophy 39 0.037
277
P HMF004 Hemifacial Spasm 39 0.037
278
HMF008 Hemifacial Atrophy, Progressive 38 0.037
279
IRS003 Iris Disease 32 0.037
280
LTR009 Lateral Meningocele Syndrome 31 0.037
281
CTS011 Cutis Marmorata Telangiectatica Congenita 30 0.037
282
ANK008 Ankyloglossia 29 0.037
283
LYM035 Lymphangiectasis 28 0.037
284
c CRD167 Cardiofaciocutaneous Syndrome 4 23 0.037
285
BNR002 Bone Resorption Disease 22 0.037
286
MNN022 Meningoencephalocele 19 0.037
287
CMP005 Campomelic Dysplasia 72 0.034
288
c NRF018 Neurofibromatosis, Type 1 68 0.034
289
BSL036 Basal Cell Nevus Syndrome 65 0.034
290
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 60 0.034
291
P NRP001 Neuropathy 60 0.034
292
KRN002 Kearns-Sayre Syndrome 59 0.034
293
P MCP010 Mucopolysaccharidosis 58 0.034
294
P ART061 Arthrogryposis, Distal, Type 2a 52 0.034
295
BLL001 Baller-Gerold Syndrome 51 0.034
296
ADT003 Auditory System Disease 51 0.034
297
P WRD020 Waardenburg Syndrome, Type 4a 50 0.034
298
P FTL009 Fetal Akinesia Deformation Sequence 49 0.034
299
P CNG046 Congenital Fiber-Type Disproportion 48 0.034
300
P DYS021 Dysautonomia 47 0.034
301
c ORF037 Orofaciodigital Syndrome I 46 0.034
302
GDS001 Good Syndrome 45 0.034
303
MTR010 Mature Teratoma 42 0.034
304
CRN025 Corneal Dystrophy 41 0.034
305
ATS010 Autosomal Recessive Disease 41 0.034
306
SPC003 Specific Developmental Disorder 40 0.034
307
P PRK003 Parkes Weber Syndrome 37 0.034
308
ANG037 Angiomatosis 34 0.034
309
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 31 0.034
310
OCL034 Oculocerebrocutaneous Syndrome 28 0.034
311
EYC003 Eye Accommodation Disease 26 0.034
312
P DMN036 Diamond Blackfan Anemia 15 with Mandibulofacial Dysostosis 25 0.034
313
c HLP011 Holoprosencephaly-7 24 0.034
314
c CRD164 Cardiofaciocutaneous Syndrome 3 23 0.034
315
c DMN030 Diamond-Blackfan Anemia 13 20 0.034
316
CHR367 Chromosome 7q11.23 Duplication Syndrome 17 0.034
317
c DMN037 Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis 14 0.034
318
BNJ001 Benjamin Syndrome 12 0.034
319
DVL017 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 11 0.034
320
INS024 Insulin-Like Growth Factor I 74 0.030
321
P NRV007 Nervous System Disease 71 0.030
322
P CLC005 Celiac Disease 67 0.030
323
P MNN013 Meningitis 65 0.030
324
MTH009 Mouth Disease 63 0.030
325
P PSR002 Psoriasis 63 0.030
326
RSP006 Respiratory System Disease 62 0.030
327
DRM014 Dermatofibrosarcoma Protuberans 60 0.030
328
ASP002 Aspartylglucosaminuria 59 0.030
329
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.030
330
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 58 0.030
331
CRT002 Cartilage-Hair Hypoplasia 58 0.030
332
RHM027 Rheumatic Disease 57 0.030
333
c THR092 Thrombophilia Due to Thrombin Defect 56 0.030
334
P TMT001 Timothy Syndrome 56 0.030
335
MNK003 Muenke Syndrome 55 0.030
336
SHP002 Shprintzen-Goldberg Syndrome 54 0.030
337
P DBT005 Diabetes Insipidus 53 0.030
338
HYP609 Hypophosphatemic Rickets, X-Linked Dominant 53 0.030
339
c PSD067 Pseudohypoparathyroidism Ia 52 0.030
340
GRG001 Greig Cephalopolysyndactyly Syndrome 52 0.030
341
NRF007 Neurofibroma 52 0.030
342
CYS010 Cystinosis 51 0.030
343
P KRT007 Keratoconus 51 0.030
344
c PRX045 Peroxisome Biogenesis Disorder 1b 51 0.030
345
VNB005 Van Buchem Disease 50 0.030
346
CSY001 C Syndrome 49 0.030
347
MND007 Mandibuloacral Dysplasia 49 0.030
348
PRT030 Parathyroid Gland Disease 49 0.030
349
JCK001 Jackson-Weiss Syndrome 49 0.030
350
SCK005 Sickle Cell Disease 49 0.030
351
c RBN018 Robinow Syndrome, Autosomal Dominant 1 48 0.030
352
BNF002 Bone Fracture 47 0.030
353
OST044 Osteoglophonic Dysplasia 47 0.030
354
P CRN108 Cranioectodermal Dysplasia 1 47 0.030
355
P SYR001 Syringomyelia 47 0.030
356
P CLD010 Cold-Induced Sweating Syndrome 1 46 0.030
357
ISC002 Ischemic Optic Neuropathy 46 0.030
358
PYL017 Pyle Disease 45 0.030
359
c PLY060 Polycystic Kidney Disease 2 45 0.030
360
P MTH007 Methemoglobinemia 45 0.030
361
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 44 0.030
362
P CRN035 Cranial Nerve Palsy 43 0.030
363
DRM013 Dermoid Cyst 43 0.030
364
SPC005 Speech Disorder 43 0.030
365
ATS008 Autosomal Dominant Disease 42 0.030
366
FTL021 Fetal Macrosomia 41 0.030
367
BDY001 Body Dysmorphic Disorder 41 0.030
368
AND001 Anodontia 41 0.030
369
P CYS017 Cystic Teratoma 41 0.030
370
HMT018 Hematopoietic Stem Cell Transplantation 41 0.030
371
EMP001 Empty Sella Syndrome 40 0.030
372
MYT011 Myotonia 40 0.030
373
TTZ003 Tietz Albinism-Deafness Syndrome 38 0.030
374
c HYP058 Hypervitaminosis a 38 0.030
375
ANR009 Aneurysmal Bone Cysts 38 0.030
376
MSC004 Muscle Tissue Disease 36 0.030
377
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 36 0.030
378
P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 35 0.030
379
c RBN008 Rubinstein-Taybi Syndrome 2 35 0.030
380
P CLB027 Coloboma, Ocular 33 0.030
381
CHN065 Choanal Atresia, Posterior 33 0.030
382
GNT005 Giant Hemangioma 33 0.030
383
ENP001 Enophthalmos 29 0.030
384
PSM001 Psammomatous Meningioma 29 0.030
385
SPT016 Septopreoptic Holoprosencephaly 29 0.030
386
c KRT029 Keratoconus 1 28 0.030
387
DFN003 Deafness and Hereditary Hearing Loss 27 0.030
388
c KNB004 Knobloch Syndrome, Type 1 27 0.030
389
MRG013 Mirage Syndrome 26 0.030
390
VND005 Van Den Ende-Gupta Syndrome 26 0.030
391
YNG002 Young Syndrome 26 0.030
392
c CRN216 Craniosynostosis 5 23 0.030
393
HMM004 Hamamy Syndrome 23 0.030
394
c PFF009 Pfeiffer Syndrome Type 3 22 0.030
395
CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 19 0.030
396
NLX003 Neu-Laxova Syndrome 2 19 0.030
397
ACR095 Acrofacial Dysostosis, Cincinnati Type 18 0.030
398
OCL044 Oculo-Auriculo-Vertebral Spectrum 18 0.030
399
BSL042 Basilar Impression, Primary 17 0.030
400
MXL011 Maxillofacial Dysostosis 11 0.030
401
CRB076 Cerebro Facio Thoracic Dysplasia 8 0.030