Search results for macrocephaly

589 hits were found for macrocephaly

# Family MCID Name MIFTS Score
1
MCR096 Macrocephaly/autism Syndrome 32 5.059
2
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 44 4.540
3
MCR221 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 21 4.216
4
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 31 4.198
5
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 57 3.604
6
ALG027 Al-Gazali-Bakalinova Syndrome 29 3.595
7
SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 23 3.587
8
MMS001 Momo Syndrome 24 3.229
9
FRY007 Fryns Macrocephaly 15 3.220
10
PRT093 Proteus Syndrome, Somatic 55 3.210
11
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 21 2.848
12
MNT139 Mental Retardation, X-Linked Syndromic, Turner Type 24 2.794
13
MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 18 2.794
14
MCR031 Macrocephaly, Benign Familial 10 2.771
15
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 24 2.758
16
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 3 2.758
17
PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 17 2.312
18
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 16 2.312
19
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3 2.289
20
SMT020 Smith-Kingsmore Syndrome 25 2.277
21
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 30 2.263
22
c MNT296 Mental Retardation, X-Linked, Syndromic 34 22 2.263
23
BGT001 Bagatelle Cassidy Syndrome 4 2.227
24
TNR001 Tenorio Syndrome 26 1.649
25
c MNT216 Mental Retardation, Autosomal Recessive 41 21 1.649
26
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 16 1.649
27
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 14 1.649
28
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 23 1.635
29
CMM024 Commad Syndrome 17 1.635
30
MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 6 1.635
31
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4 1.635
32
MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 2 1.635
33
c MNT239 Mental Retardation, Autosomal Dominant 35 20 1.619
34
KNS006 Kniest-Like Dysplasia, Lethal 18 1.619
35
OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 12 1.619
36
CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 5 1.619
37
XLN213 X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome 3 1.619
38
CLR029 Clark-Baraitser Syndrome 15 1.600
39
ZRS001 Zori Stalker Williams Syndrome 4 1.600
40
c FCS008 Fucosidosis Type 1 9 1.575
41
CTS011 Cutis Marmorata Telangiectatica Congenita 32 0.155
42
P INT063 Intellectual Disability 58 0.120
43
P OBS005 Obesity 91 0.085
44
MGL013 Megalencephaly 53 0.085
45
P THN009 Thanatophoric Dysplasia, Type I 64 0.079
46
MTC007 Mitochondrial Complex I Deficiency 62 0.079
47
ACR008 Acrocallosal Syndrome 55 0.079
48
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 53 0.079
49
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 51 0.079
50
c CWD006 Cowden Syndrome 1 51 0.079
51
GRG001 Greig Cephalopolysyndactyly Syndrome 51 0.079
52
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 41 0.079
53
OPS002 Opsismodysplasia 35 0.079
54
P ATS007 Autism Spectrum Disorder 65 0.073
55
CMP005 Campomelic Dysplasia 58 0.073
56
P STS008 Sotos Syndrome 1 54 0.073
57
OST022 Osteopathia Striata with Cranial Sclerosis 47 0.073
58
P HYP265 Hypotonia 39 0.073
59
HYP622 Hypertrichotic Osteochondrodysplasia 38 0.073
60
PRM056 Primrose Syndrome 36 0.073
61
CST001 Costello Syndrome 67 0.067
62
P HYD006 Hydrocephalus 66 0.067
63
P CRD013 Cardiofaciocutaneous Syndrome 65 0.067
64
ALX003 Alexander Disease 65 0.067
65
P WVR001 Weaver Syndrome 60 0.067
66
MNK003 Muenke Syndrome 60 0.067
67
LGS001 Legius Syndrome 51 0.067
68
HYP691 Hypomelanosis of Ito 44 0.067
69
P NNN014 Noonan-Like Syndrome with Loose Anagen Hair 34 0.067
70
WTS001 Watson Syndrome 30 0.067
71
CHR225 Chromosome 1q21.1 Duplication Syndrome 25 0.067
72
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 25 0.067
73
SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 22 0.067
74
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 22 0.067
75
EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 20 0.067
76
ATK002 Atkin-Flaitz Syndrome 17 0.067
77
P FRG001 Fragile X Syndrome 67 0.060
78
P CWD001 Cowden Disease 65 0.060
79
P EPL164 Epilepsy 65 0.060
80
c MCP009 Mucopolysaccharidosis Ii 62 0.060
81
P SHR029 Short Syndrome 61 0.060
82
HYP042 Hypochondroplasia 58 0.060
83
c MNN025 Mannosidosis, Alpha-, Types I and Ii 54 0.060
84
P MLT007 Multiple Epiphyseal Dysplasia 52 0.060
85
c THN010 Thanatophoric Dysplasia, Type Ii 51 0.060
86
PHL006 Phelan-Mcdermid Syndrome 51 0.060
87
JCB001 Jacobsen Syndrome 50 0.060
88
P GLT023 Glutaric Acidemia Iic 49 0.060
89
c L2H001 L-2-Hydroxyglutaric Aciduria 44 0.060
90
PLS030 Plasminogen Deficiency, Type I 43 0.060
91
c RBN009 Robinow Syndrome, Autosomal Recessive 41 0.060
92
GLT021 Glutaricaciduria, Type I 39 0.060
93
CRB009 Cerebritis 39 0.060
94
DNN002 Donnai-Barrow Syndrome 38 0.060
95
c OST126 Osteopetrosis, Autosomal Recessive 1 36 0.060
96
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 36 0.060
97
OPT054 Opitz-Kaveggia Syndrome 35 0.060
98
DSM002 Desmosterolosis 33 0.060
99
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 33 0.060
100
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 32 0.060
101
CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 31 0.060
102
WSM002 Waisman Syndrome 31 0.060
103
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 29 0.060
104
c CNG187 Congenital Disorder of Glycosylation, Type Iid 27 0.060
105
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 26 0.060
106
c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 25 0.060
107
c OST106 Osteopetrosis, Autosomal Recessive 8 24 0.060
108
c CWD009 Cowden Syndrome 7 19 0.060
109
FBR087 Fibromatosis, Gingival, with Distinctive Facies 19 0.060
110
RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 17 0.060
111
AND005 Androgen Insensitivity Syndrome, Mild 16 0.060
112
SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 16 0.060
113
P NRF018 Neurofibromatosis, Type 1 78 0.052
114
P HLP001 Holoprosencephaly 65 0.052
115
P MCR010 Microcephaly 58 0.052
116
LKN001 Leukoencephalopathy with Vanishing White Matter 57 0.052
117
P SCL018 Scoliosis 56 0.052
118
P CNV004 Canavan Disease 55 0.052
119
P PLY006 Polydactyly 54 0.052
120
CLB001 Coloboma 54 0.052
121
MSS001 Masa Syndrome 53 0.052
122
PRP016 Paraplegia 48 0.052
123
P D2H001 D-2-Hydroxyglutaric Aciduria 46 0.052
124
PGT008 Paget Disease of Bone 5, Juvenile-Onset 43 0.052
125
P CRN013 Craniodiaphyseal Dysplasia 42 0.052
126
TRP014 Triploidy 41 0.052
127
PTN006 Pten Hamartoma Tumor Syndrome 41 0.052
128
HMH002 Hemihypertrophy 40 0.052
129
c MNT109 Mental Retardation, X-Linked, Syndromic 15 36 0.052
130
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 35 0.052
131
c RBN017 Robinow Syndrome, Autosomal Dominant 2 35 0.052
132
SCH030 Schneckenbecken Dysplasia 32 0.052
133
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 30 0.052
134
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 29 0.052
135
c KNN007 Kenny-Caffey Syndrome, Type 2 29 0.052
136
c NNN021 Noonan Syndrome 8 29 0.052
137
ACR002 Acrocapitofemoral Dysplasia 26 0.052
138
SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 24 0.052
139
MGL033 Megalocornea-Mental Retardation Syndrome 24 0.052
140
MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 22 0.052
141
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 22 0.052
142
LSC003 Luscan-Lumish Syndrome 21 0.052
143
c LTH031 Lethal Congenital Contracture Syndrome 6 20 0.052
144
CLC055 Cole-Carpenter Syndrome 2 20 0.052
145
CRN272 Craniometadiaphyseal Dysplasia 19 0.052
146
CHR582 Chromosome 3q29 Duplication Syndrome 18 0.052
147
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 18 0.052
148
SHR023 Short Stature Syndrome, Brussels Type 17 0.052
149
20P001 20p12.3 Microdeletion Syndrome 15 0.052
150
P TYS001 Tay-Sachs Disease 70 0.042
151
TTR001 Tetralogy of Fallot 69 0.042
152
P OST005 Osteogenesis Imperfecta 68 0.042
153
BSL036 Basal Cell Nevus Syndrome 67 0.042
154
ACH004 Achondroplasia 66 0.042
155
P PRD006 Prader-Willi Syndrome 65 0.042
156
c MCP037 Mucopolysaccharidosis is 65 0.042
157
c MCP003 Mucopolysaccharidosis Vii 63 0.042
158
P OST001 Osteopetrosis 63 0.042
159
MCK007 Muckle-Wells Syndrome 63 0.042
160
P CLD001 Cleidocranial Dysplasia 62 0.042
161
c MCP024 Mucopolysaccharidosis Type Vi 61 0.042
162
c JBR020 Joubert Syndrome 1 61 0.042
163
CNC002 Cinca Syndrome 61 0.042
164
P CTS001 Cutis Laxa 60 0.042
165
c MCP004 Mucopolysaccharidosis Iv 60 0.042
166
P MYP006 Myopia 59 0.042
167
PTR032 Peters-Plus Syndrome 59 0.042
168
IMG001 Image Syndrome 58 0.042
169
DBF001 D-Bifunctional Protein Deficiency 57 0.042
170
CCH002 Coach Syndrome 56 0.042
171
KLP010 Klippel-Trenaunay-Weber Syndrome 55 0.042
172
c BRD010 Bardet-Biedl Syndrome 1 55 0.042
173
MLT135 Multiple Sulfatase Deficiency 54 0.042
174
ALP008 Alopecia 54 0.042
175
BRJ001 Borjeson-Forssman-Lehmann Syndrome 54 0.042
176
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 54 0.042
177
P TRM003 Tremor 53 0.042
178
DST005 Diastrophic Dysplasia 53 0.042
179
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 52 0.042
180
P ENC018 Encephalopathy 52 0.042
181
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 49 0.042
182
MLB001 Mulibrey Nanism 49 0.042
183
NNT017 Neonatal Adrenoleukodystrophy 49 0.042
184
P PRN026 Porencephaly 48 0.042
185
NRF008 Neurofibromatosis-Noonan Syndrome 47 0.042
186
P PLG001 Pelger-Huet Anomaly 46 0.042
187
LRN003 Learning Disability 46 0.042
188
P CRN012 Craniometaphyseal Dysplasia 46 0.042
189
HMM003 Hemimegalencephaly 44 0.042
190
DND001 Dandy-Walker Syndrome 44 0.042
191
c ACH033 Achondrogenesis, Type Ia 44 0.042
192
P MCP012 Mucopolysaccharidosis Ih 44 0.042
193
c ACH035 Achondrogenesis Ib 43 0.042
194
c SPL024 Split-Hand/foot Malformation 3 43 0.042
195
TMP012 Temple Syndrome 43 0.042
196
c OST131 Osteopetrosis, Autosomal Dominant 2 42 0.042
197
c BRC082 Brachydactyly, Type E 42 0.042
198
SPS057 Spasticity 42 0.042
199
c MNT230 Mental Retardation, X-Linked Syndromic 5 42 0.042
200
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 41 0.042
201
ARC002 Arachnoiditis 41 0.042
202
IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 41 0.042
203
FMR004 Fumarase Deficiency 40 0.042
204
P ACH011 Achondrogenesis 40 0.042
205
c SPN330 Spondylocostal Dysostosis 5 40 0.042
206
c LRS002 Larsen-Like Syndrome 39 0.042
207
ARC007 Arachnoid Cysts 38 0.042
208
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 38 0.042
209
BDY001 Body Dysmorphic Disorder 38 0.042
210
c ATS282 Autosomal Recessive Malignant Osteopetrosis 38 0.042
211
P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 37 0.042
212
GRN039 Greenberg Skeletal Dysplasia 36 0.042
213
PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 36 0.042
214
c RBN018 Robinow Syndrome, Autosomal Dominant 1 36 0.042
215
c PRX059 Peroxisome Biogenesis Disorder 1a 36 0.042
216
c JBR004 Joubert Syndrome 2 35 0.042
217
c RTS003 Ritscher-Schinzel Syndrome 1 34 0.042
218
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 34 0.042
219
c CNG191 Congenital Disorder of Glycosylation, Type Iia 34 0.042
220
LJN003 Lujan-Fryns Syndrome 34 0.042
221
47X001 47,xyy Syndrome 34 0.042
222
P ARC016 Auriculocondylar Syndrome 1 34 0.042
223
MPP001 Mpph Syndrome 34 0.042
224
TRS007 Trismus-Pseudocamptodactyly Syndrome 34 0.042
225
VSL002 Visual Epilepsy 33 0.042
226
CHR355 Chromosome 15q13.3 Microdeletion Syndrome 33 0.042
227
c NNN011 Noonan Syndrome 4 33 0.042
228
PSD008 Pseudopapilledema 33 0.042
229
PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 33 0.042
230
CSN001 Cousin Syndrome 33 0.042
231
MLY006 Molybdenum Cofactor Deficiency a 33 0.042
232
c OST127 Osteogenesis Imperfecta, Type X 32 0.042
233
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 32 0.042
234
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 32 0.042
235
AYM001 Ayme-Gripp Syndrome 32 0.042
236
c HLP027 Holoprosencephaly 7 32 0.042
237
GGN002 Gigantism 32 0.042
238
c STS007 Sotos Syndrome 2 31 0.042
239
SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 31 0.042
240
c CRN221 Craniosynostosis 4 31 0.042
241
c NNN013 Noonan Syndrome 6 31 0.042
242
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 30 0.042
243
FNT003 Fountain Syndrome 30 0.042
244
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 30 0.042
245
FLS001 Fils Syndrome 30 0.042
246
ALR002 Al-Raqad Syndrome 29 0.042
247
SYN057 Syndromic Intellectual Disability 29 0.042
248
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 29 0.042
249
TMT003 Temtamy Syndrome 29 0.042
250
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28 0.042
251
TTR012 Tetrasomy 9p 28 0.042
252
CHR594 Chromosome 3q29 Deletion Syndrome 28 0.042
253
7Q1002 7q11.23 Duplication Syndrome 28 0.042
254
c CWD008 Cowden Syndrome 6 28 0.042
255
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 28 0.042
256
CRT037 Cortical Dysplasia-Focal Epilepsy Syndrome 28 0.042
257
CHR590 Chromosome 15q11-Q13 Duplication Syndrome 27 0.042
258
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 27 0.042
259
c BRT028 Brittle Cornea Syndrome 1 27 0.042
260
HYP277 Hypothalamic Hamartomas, Somatic 27 0.042
261
MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 27 0.042
262
FGS002 Fg Syndrome 2 27 0.042
263
DRR004 Diarrhea 3, Secretory Sodium, Congenital, Syndromic 26 0.042
264
RHM015 Rhombencephalosynapsis 26 0.042
265
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 26 0.042
266
ISL062 Isolated Plagiocephaly 26 0.042
267
CHR366 Chromosome 5p13 Duplication Syndrome 26 0.042
268
PRG123 Progeroid Syndrome, Neonatal 26 0.042
269
DYS045 Dysosteosclerosis 26 0.042
270
c CWD004 Cowden Syndrome 5 26 0.042
271
OCL039 Oculoectodermal Syndrome 25 0.042
272
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 25 0.042
273
P TRS029 Trisomy 1q 25 0.042
274
HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 25 0.042
275
c DSB005 Desbuquois Dysplasia 2 25 0.042
276
LBN004 Liebenberg Syndrome 25 0.042
277
c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 25 0.042
278
c CRN110 Cranioectodermal Dysplasia 3 24 0.042
279
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 24 0.042
280
SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 24 0.042
281
c RBN020 Robinow Syndrome, Autosomal Dominant 3 24 0.042
282
c ADM007 Adams-Oliver Syndrome 2 24 0.042
283
c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 24 0.042
284
BRN127 Brain Malformations and Urinary Tract Defects 24 0.042
285
MLY005 Molybdenum Cofactor Deficiency B 24 0.042
286
c ATS173 Autism 18 24 0.042
287
EHL070 Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies 24 0.042
288
CRN049 Craniolenticulosutural Dysplasia 24 0.042
289
c LSS025 Lissencephaly 5 24 0.042
290
ANG062 Angioosteohypertrophic Syndrome 23 0.042
291
WLL012 Williams-Beuren Region Duplication Syndrome 22 0.042
292
SPN113 Spinocerebellar Ataxia with Dysmorphism 22 0.042
293
HYP312 Hypophosphatemic Rickets and Hyperparathyroidism 22 0.042
294
SDH011 Sedoheptulokinase Deficiency 21 0.042
295
c FRN037 Frontal Encephalocele 21 0.042
296
SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 21 0.042
297
TTR019 Tetrasomy 5p 21 0.042
298
AMN014 Aminopterin Syndrome Sine Aminopterin 21 0.042
299
CHR483 Chromosome 3q13.31 Deletion Syndrome 21 0.042
300
ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 21 0.042
301
c ARC011 Auriculocondylar Syndrome 2 21 0.042
302
RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 20 0.042
303
CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 20 0.042
304
c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 20 0.042
305
ARM006 Armfield X-Linked Mental Retardation Syndrome 19 0.042
306
6QT002 6q Terminal Deletion Syndrome 19 0.042
307
NSD003 Nasodigitoacoustic Syndrome 19 0.042
308
CHR252 Chromosome 5p Duplication 18 0.042
309
P MNS011 Monosomy 9q22.3 18 0.042
310
ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 17 0.042
311
MST021 Meester-Loeys Syndrome 17 0.042
312
SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 17 0.042
313
MSC026 Muscular Dystrophy White Matter Spongiosis 17 0.042
314
c SVR048 Severe Canavan Disease 17 0.042
315
RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 17 0.042
316
CRN224 Craniofaciofrontodigital Syndrome 17 0.042
317
MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 17 0.042
318
6Q1001 6q16 Deletion Syndrome 17 0.042
319
7P2001 7p22.1 Microduplication Syndrome 16 0.042
320
c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 16 0.042
321
CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 16 0.042
322
LTH005 Lethal Chondrodysplasia Moerman Type 16 0.042
323
SFR001 Sifrim-Hitz-Weiss Syndrome 16 0.042
324
DST055 Distal 22q11.2 Microduplication Syndrome 16 0.042
325
CRB164 Cerebrooculonasal Syndrome 15 0.042
326
LNR012 Linear Verrucous Nevus Syndrome 15 0.042
327
ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 15 0.042
328
1P2001 1p21.3 Microdeletion Syndrome 15 0.042
329
CRB071 Cerebral Gigantism Jaw Cysts 15 0.042
330
SHS001 Shashi-Pena Syndrome 14 0.042
331
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 14 0.042
332
GRW027 Growth Restriction, Severe, with Distinctive Facies 14 0.042
333
TRP011 Triopia 13 0.042
334
c RBN010 Robinow-Like Syndrome 13 0.042
335
OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 13 0.042
336
EPM003 Epimetaphyseal Skeletal Dysplasia 12 0.042
337
ISL030 Isolated Cerebellar Hypoplasia/agenesis 12 0.042
338
THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 12 0.042
339
CHR360 Chromosome 4q32.1-Q32.2 Triplication Syndrome 11 0.042
340
MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 11 0.042
341
P RTN024 Retinoblastoma 75 0.030
342
HDG012 Hodgkin Lymphoma 73 0.030
343
P NRB001 Neuroblastoma 71 0.030
344
MLT021 Multiple System Atrophy 70 0.030
345
P DMN001 Diamond-Blackfan Anemia 70 0.030
346
P NJM001 Nijmegen Breakage Syndrome 68 0.030
347
OTT002 Otitis Media 65 0.030
348
c BSL007 Basal Cell Carcinoma 64 0.030
349
P BRD002 Bardet-Biedl Syndrome 64 0.030
350
P OST002 Osteoporosis 63 0.030
351
LYM115 Lymphoma, Non-Hodgkin 63 0.030
352
MNK001 Menkes Disease 63 0.030
353
P ANG001 Angelman Syndrome 62 0.030
354
CRT072 Creutzfeldt-Jakob Disease 62 0.030
355
SHW002 Shwachman-Diamond Syndrome 61 0.030
356
P DYS154 Dystonia 61 0.030
357
HYP056 Hypoglycemia 60 0.030
358
P LYM025 Lymphedema 60 0.030
359
PRT036 Peritonitis 60 0.030
360
P FCL005 Focal Segmental Glomerulosclerosis 60 0.030
361
c CNT035 Central Nervous System Disease 60 0.030
362
MCR013 Microphthalmia 59 0.030
363
P GLM045 Glioma 59 0.030
364
c OST122 Osteogenesis Imperfecta, Type Iii 59 0.030
365
P HMN010 Hemangioma 59 0.030
366
NRF007 Neurofibroma 58 0.030
367
P HYP040 Hypospadias 58 0.030
368
CRT002 Cartilage-Hair Hypoplasia 58 0.030
369
ZLL001 Zellweger Syndrome 58 0.030
370
P HYP060 Hyperinsulinism 57 0.030
371
ANR040 Aneurysm 57 0.030
372
CHR029 Choroid Plexus Papilloma 56 0.030
373
P LKD001 Leukodystrophy 56 0.030
374
P ANP001 Anaplastic Large Cell Lymphoma 56 0.030
375
P CHN012 Chondrosarcoma 55 0.030
376
ALS001 Alstrom Syndrome 55 0.030
377
MCK005 Mckusick-Kaufman Syndrome 55 0.030
378
SNS001 Sensorineural Hearing Loss 54 0.030
379
c HYP615 Hyperparathyroidism, Familial Primary 53 0.030
380
ERY003 Erythema Multiforme 53 0.030
381
ATY005 Atypical Teratoid Rhabdoid Tumor 53 0.030
382
P HYD011 Hydrolethalus Syndrome 53 0.030
383
P SMP003 Simpson-Golabi-Behmel Syndrome 53 0.030
384
P SCH018 Schizencephaly 52 0.030
385
P ATX004 Ataxia 52 0.030
386
P ACT135 Acute Graft Versus Host Disease 52 0.030
387
c CNG021 Congenital Toxoplasmosis 52 0.030
388
c PSD066 Pseudohypoparathyroidism, Type Ib 52 0.030
389
P HYP024 Hypoparathyroidism 52 0.030
390
HYP080 Hypogonadism 52 0.030
391
OLG003 Oligohydramnios 52 0.030
392
P LFT003 Left Ventricular Noncompaction 52 0.030
393
ACR011 Acromesomelic Dysplasia, Maroteaux Type 51 0.030
394
P TRT010 Teratoma 51 0.030
395
c LPM012 Lipomatosis, Multiple 50 0.030
396
c BRD014 Bardet-Biedl Syndrome 2 50 0.030
397
PRL032 Perlman Syndrome 50 0.030
398
PGM001 Pigmented Villonodular Synovitis 49 0.030
399
PNN001 Panniculitis 49 0.030
400
c BRT034 Bartter Syndrome, Type 2 49 0.030
401
RTN023 Retinitis 49 0.030
402
INT075 Intracranial Hypertension 48 0.030
403
BRN032 Brain Glioma 48 0.030
404
INC021 Incontinentia Pigmenti 48 0.030
405
c BRD011 Bardet-Biedl Syndrome 10 48 0.030
406
P GLM040 Glioma Susceptibility 1 48 0.030
407
c BRD012 Bardet-Biedl Syndrome 11 48 0.030
408
MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 47 0.030
409
c HYP726 Hypercalcemia, Infantile, 1 47 0.030
410
c BRD013 Bardet-Biedl Syndrome 12 47 0.030
411
P OST028 Osteochondroma 47 0.030
412
SKL014 Skeletal Dysplasia 46 0.030
413
HYP542 Hypersensitivity Syndrome, Carbamazepine-Induced 46 0.030
414
PLY012 Polyhydramnios 46 0.030
415
TRC040 Tracheoesophageal Fistula 46 0.030
416
PRN023 Prion Disease 46 0.030
417
MLT145 Multiple Enchondromatosis, Maffucci Type 46 0.030
418
NTR003 Natural Killer Cell Leukemia 46 0.030
419
P HRD001 Hereditary Multiple Exostoses 46 0.030
420
LYM051 Lymphomatoid Granulomatosis 46 0.030
421
PYL017 Pyle Disease 46 0.030
422
P PSD015 Pseudohypoparathyroidism 46 0.030
423
c BRD044 Bardet-Biedl Syndrome 17 45 0.030
424
OLG020 Oligoarticular Juvenile Idiopathic Arthritis 45 0.030
425
SYN005 Synostosis 45 0.030
426
CNT007 Central Nervous System Tuberculosis 45 0.030
427
ALB002 Albinism 45 0.030
428
ENC044 Enchondromatosis, Multiple, Ollier Type 45 0.030
429
END020 Endocardial Fibroelastosis 45 0.030
430
MLT092 Multicentric Carpotarsal Osteolysis Syndrome 45 0.030
431
MCR037 Macroglossia 45 0.030
432
RTC005 Reticulosarcoma 44 0.030
433
c ACT076 Acute Myocarditis 44 0.030
434
SKL017 Skeletal Dysplasias 44 0.030
435
P SLL003 Salla Disease 44 0.030
436
BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 44 0.030
437
c BRD016 Bardet-Biedl Syndrome 4 44 0.030
438
HPT074 Hepatic Adenoma, Somatic 44 0.030
439
GRS011 Gerstmann-Straussler Disease 44 0.030
440
c BRD015 Bardet-Biedl Syndrome 3 44 0.030
441
AST006 Astigmatism 43 0.030
442
c FNC032 Fanconi Anemia, Complementation Group B 43 0.030
443
VSC047 Vascular Malformation 43 0.030
444
TCL002 T-Cell Large Granular Lymphocyte Leukemia 43 0.030
445
c HRD104 Hereditary Multiple Osteochondromas 43 0.030
446
CRB002 Cerebral Primitive Neuroectodermal Tumor 43 0.030
447
THR024 Thrombosis 43 0.030
448
CHN054 Chondrodysplasia, Blomstrand Type 42 0.030
449
c BRD033 Bardet-Biedl Syndrome 13 42 0.030
450
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 42 0.030
451
c BRD020 Bardet-Biedl Syndrome 8 42 0.030
452
PRP036 Peripheral T-Cell Lymphoma 42 0.030
453
VLL003 Villonodular Synovitis 41 0.030
454
c BRD048 Bardet-Biedl Syndrome 18 41 0.030
455
FBR008 Fibrillary Astrocytoma 41 0.030
456
ANP009 Anaplastic Oligodendroglioma 41 0.030
457
c BRD018 Bardet-Biedl Syndrome 6 41 0.030
458
EXS001 Exostosis 41 0.030
459
CLD014 Cole Disease 40 0.030
460
ATS008 Autosomal Dominant Disease 40 0.030
461
LYM052 Lymphomatoid Papulosis 40 0.030
462
VCT001 Vacterl Association 40 0.030
463
c BRD032 Bardet-Biedl Syndrome 14 40 0.030
464
GRD001 Giardiasis 40 0.030
465
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 40 0.030
466
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 39 0.030
467
HPT070 Hepatosplenic T-Cell Lymphoma 39 0.030
468
c BRD035 Bardet-Biedl Syndrome 15 39 0.030
469
VTR016 Vater/vacterl Association 39 0.030
470
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 39 0.030
471
PLX002 Plexiform Neurofibroma 39 0.030
472
P CRB088 Cerebral Atrophy 39 0.030
473
RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 38 0.030
474
PLL008 Pallister-Killian Syndrome 38 0.030
475
TTH008 Tooth Resorption 38 0.030
476
TTR016 Tetra-Amelia Syndrome 38 0.030
477
c NNN010 Noonan Syndrome 3 38 0.030
478
BRS015 Breast Medullary Carcinoma 38 0.030
479
LGN005 Ligneous Conjunctivitis 38 0.030
480
P PNT019 Pontocerebellar Hypoplasia 38 0.030
481
CMP001 Composite Lymphoma 37 0.030
482
TTH001 Tooth Ankylosis 37 0.030
483
CRP010 Corpus Callosum Agenesis 37 0.030
484
ADL053 Adult Astrocytic Tumour 37 0.030
485
c NNN012 Noonan Syndrome 5 37 0.030
486
PLY024 Polymicrogyria 36 0.030
487
PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 36 0.030
488
MYT022 Myotubular Myopathy, X-Linked 36 0.030
489
P BND018 Band Heterotopia 36 0.030
490
PRP024 Peripheral Osteosarcoma 36 0.030
491
SCR011 Scrapie 36 0.030
492
ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 36 0.030
493
c OST129 Osteopetrosis, Autosomal Recessive 2 36 0.030
494
c SCL042 Sclerosteosis 2 35 0.030
495
INS025 Insomnia, Fatal Familial 35 0.030
496
HYD001 Hydranencephaly 35 0.030
497
c ADL008 Adult Oligodendroglioma 34 0.030
498
RVL002 Ruvalcaba Syndrome 34 0.030
499
c PNT010 Pontocerebellar Hypoplasia Type 1 33 0.030
500
CYT019 Cytogenetically Normal Acute Myeloid Leukemia 33 0.030
501
NCR003 Necrotizing Sialometaplasia 33 0.030
502
DYS048 Dysplasia Epiphysealis Hemimelica 33 0.030
503
SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 33 0.030
504
c TYP024 Type Ii Mixed Cryoglobulinemia 33 0.030
505
SGT001 Sagittal Sinus Thrombosis 33 0.030
506
c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 33 0.030
507
INT016 Intraductal Papilloma 32 0.030
508
LYM023 Lymphatic System Cancer 32 0.030
509
ANG037 Angiomatosis 32 0.030
510
CHN003 Chondroblastic Osteosarcoma 32 0.030
511
OST069 Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 32 0.030
512
c BRT038 Baraitser-Winter Syndrome 1 32 0.030
513
PRS016 Periosteal Chondrosarcoma 31 0.030
514
HYP021 Hypercementosis 31 0.030
515
CHR076 Choriocarcinoma of the Testis 31 0.030
516
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 31 0.030
517
LYM015 Lymphocytic Gastritis 31 0.030
518
c RTN146 Retinitis Pigmentosa 62 30 0.030
519
ACR016 Acromesomelic Dysplasia 30 0.030
520
CLR005 Clear Cell Chondrosarcoma 30 0.030
521
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 30 0.030
522
CHR543 Chromosome 2q37 Deletion Syndrome 30 0.030
523
P 2HY001 2-Hydroxyglutaric Aciduria 29 0.030
524
RHB022 Rhabdoid Tumors, Somatic 29 0.030
525
c OST134 Osteopetrosis, Autosomal Recessive 6 28 0.030
526
CRY032 Carey-Fineman-Ziter Syndrome 28 0.030
527
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 28 0.030
528
CLB026 Colobomatous Microphthalmia 28 0.030
529
SPN012 Spindle Cell Hemangioma 28 0.030
530
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 28 0.030
531
ENC014 Enchondroma 28 0.030
532
c NNS043 Nonsyndromic Retinitis Pigmentosa 27 0.030
533
SHR098 Short-Rib Thoracic Dysplasia 12 27 0.030
534
JXT001 Juxtacortical Chondroma 27 0.030
535
12Q002 12q14 Microdeletion Syndrome 27 0.030
536
c JBR016 Joubert Syndrome 10 27 0.030
537
ISL010 Isolated 17-Linked Lissencephaly 27 0.030
538
MNT231 Mental Retardation, X-Linked Syndromic, Nascimento-Type 27 0.030
539
HYP695 Hypertrichotic Osteochondrodysplasia Cantu Type 27 0.030
540
P PRT063 Proteus-Like Syndrome 27 0.030
541
PRT043 Parietal Foramina with Cleidocranial Dysplasia 27 0.030
542
FGS004 Fg Syndrome 4 27 0.030
543
HNM002 Hinman Syndrome 27 0.030
544
OPT032 Optic Pathway Glioma 26 0.030
545
c OST136 Osteopetrosis, Autosomal Recessive 7 26 0.030
546
INF005 Infiltrating Lipoma 26 0.030
547
MGL003 Megalocornea 26 0.030
548
ATX038 Ataxia and Polyneuropathy, Adult-Onset 25 0.030
549
HRL006 Harel-Yoon Syndrome 25 0.030
550
TTT001 Tatton-Brown-Rahman Syndrome 25 0.030
551
c OST120 Osteopetrosis, Autosomal Recessive 5 25 0.030
552
c CWD003 Cowden Syndrome 2 25 0.030
553
c OPT064 Optic Atrophy 11 25 0.030
554
c OST137 Osteopetrosis, Autosomal Recessive 4 24 0.030
555
c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 24 0.030
556
ORB009 Orbit Lymphoma 24 0.030
557
ATR055 Atrial Septal Aneurysm 24 0.030
558
c VRL006 Viral Esophagitis 23 0.030
559
c CWD007 Cowden Syndrome 3 23 0.030
560
c CWD005 Cowden Syndrome 4 23 0.030
561
LVY002 Levy-Shanske Syndrome 22 0.030
562
c RTS002 Ritscher-Schinzel Syndrome 2 22 0.030
563
VCT007 Vacterl Association, X-Linked 22 0.030
564
INT033 Intracranial Chondrosarcoma 22 0.030
565
P OTP001 Otopalatodigital Syndrome 22 0.030
566
SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 21 0.030
567
ACR044 Acroosteolysis Dominant Type 21 0.030
568
DND013 Dandy-Walker Malformation with Postaxial Polydactyly 21 0.030
569
MGL027 Megalocornea-Intellectual Disability Syndrome 21 0.030
570
INT012 Interval Angle-Closure Glaucoma 20 0.030
571
2Q3002 2q37 Microdeletion Syndrome 20 0.030
572
CHR190 Chromosome 12p Duplication 20 0.030
573
SHK001 Shaken Baby Syndrome 19 0.030
574
CRN083 Craniofacial Dyssynostosis 18 0.030
575
c STS009 Sotos Syndrome 3 18 0.030
576
NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 17 0.030
577
HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 17 0.030
578
CRN266 Craniofacial Dyssynostosis with Short Stature 17 0.030
579
LJN002 Lujan Syndrome 16 0.030
580
c ANX008 Anauxetic Dysplasia 2 15 0.030
581
CLP002 Colpocephaly 15 0.030
582
THV001 Thauvin-Robinet-Faivre Syndrome 14 0.030
583
BBB001 Bobble-Head Doll Syndrome 14 0.030
584
c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 13 0.030
585
CHN070 Cohen-Gibson Syndrome 12 0.030
586
1Q2002 1q21.1 Deletion 11 0.030
587
P VCT008 Vacterl with Hydrocephalus 10 0.030
588
P 17Q010 17q12 Deletion Syndrome 10 0.030
589
c PPP001 Ppp2r5d-Related Intellectual Disability 7 0.030
Content
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