Search results for "macrocephaly"

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

444 hits were found for 'macrocephaly'

# Family MCID Name MIFTS Score
1
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 25 3.939
2
MCR096 Macrocephaly/autism Syndrome 20 3.939
3
MCR168 Macrocephaly - Spastic Paraplegia - Dysmorphism 15 3.624
4
MMS001 Momo Syndrome 27 3.314
5
MCR031 Macrocephaly, Benign Familial 11 3.222
6
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 4 3.206
7
MCR033 Macrocephaly-Capillary Malformation 16 2.954
8
MGL021 Megalencephaly-Capillary Malformation Syndrome 17 2.825
9
ZRS001 Zori Stalker Williams Syndrome 15 2.825
10
FCL035 Facial Dysmorphism - Macrocephaly - Myopia - Dandy-Walker Malformation 15 2.825
11
DND011 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia and Brachytelephalangy 4 2.810
12
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 4 2.810
13
MCR221 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 14 2.794
14
INT251 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome 5 2.776
15
BGT001 Bagatelle Cassidy Syndrome 4 2.776
16
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 63 2.362
17
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 31 2.350
18
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 28 2.350
19
MCR174 Macrocephaly - Short Stature - Paraplegia 13 2.322
20
P PRT008 Proteus Syndrome 60 2.306
21
XLN139 X-Linked Intellectual Disability - Macrocephaly - Macroorchidism 16 2.306
22
DND008 Dandy-Walker Malformation Associated with Macrocephaly, Facial Anomalies, Developmental Delay, and Brain Stem Dysgenesis 4 2.306
23
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 5 2.288
24
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 4 2.288
25
MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 3 2.288
26
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 29 2.267
27
OST102 Osteoporosis - Macrocephaly - Blindness - Joint Hyperlaxity 11 2.267
28
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 4 2.267
29
MCR198 Macrocephaly - Immune Deficiency - Anemia 4 2.267
30
XLN153 X-Linked Recessive Intellectual Disability - Macrocephaly - Ciliary Dysfunction 3 2.267
31
PRT093 Proteus Syndrome, Somatic 46 1.670
32
KNS002 Kniest Like Dysplasia Lethal 19 1.670
33
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 18 1.652
34
MLT096 Multiple Epiphyseal Dysplasia, Al-Gazali Type 16 1.652
35
c MNT216 Mental Retardation, Autosomal Recessive 41 17 1.631
36
CLR029 Clark-Baraitser Syndrome 12 1.631
37
MCD001 Mac Dermot Winter Syndrome 20 1.603
38
c FCS008 Fucosidosis Type 1 8 1.603
39
CTS011 Cutis Marmorata Telangiectatica Congenita 45 0.179
40
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 43 0.158
41
c MNT147 Mental Retardation 56 0.135
42
NRN002 Neuronitis 43 0.107
43
P OBS005 Obesity 89 0.101
44
LRN003 Learning Disability 62 0.096
45
P HYD006 Hydrocephalus 69 0.089
46
P CWD006 Cowden Syndrome 1 59 0.089
47
SYN053 Syndromic Diarrhea 34 0.089
48
P MLT007 Multiple Epiphyseal Dysplasia 74 0.076
49
P SHR002 Short Stature 68 0.076
50
P THN004 Thanatophoric Dysplasia Type 1 60 0.076
51
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 53 0.076
52
SCH016 Schimke Immunoosseous Dysplasia 48 0.076
53
MGL013 Megalencephaly 45 0.076
54
TTR016 Tetra-Amelia Syndrome 43 0.076
55
OPS002 Opsismodysplasia 39 0.076
56
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 0.068
57
KLP002 Klippel-Trenaunay Syndrome 69 0.068
58
CST001 Costello Syndrome 66 0.068
59
MNK003 Muenke Syndrome 64 0.068
60
MTC007 Mitochondrial Complex I Deficiency 63 0.068
61
P ATS007 Autism Spectrum Disorder 58 0.068
62
INC001 Incontinentia Pigmenti Achromians 56 0.068
63
GRG001 Greig Cephalopolysyndactyly Syndrome 56 0.068
64
c MCR010 Microcephaly 56 0.068
65
c SYN001 Syndactyly 50 0.068
66
P CNT056 Cantu Syndrome 49 0.068
67
P ACH008 Achondrogenesis Type Ia 49 0.068
68
HYP265 Hypotonia 40 0.068
69
SPS057 Spasticity 37 0.068
70
LJN002 Lujan Syndrome 37 0.068
71
OST098 Osteopathia Striata Cranial Sclerosis 34 0.068
72
DSM002 Desmosterolosis 33 0.068
73
WTS001 Watson Syndrome 27 0.068
74
c CHR225 Chromosome 1q21.1 Duplication Syndrome 21 0.068
75
P INT105 Intellectual Disability Multi-Gene Panels 16 0.068
76
P NRF002 Neurofibromatosis 94 0.058
77
P FRG001 Fragile X Syndrome 77 0.058
78
TTR001 Tetralogy of Fallot 74 0.058
79
P ANG001 Angelman Syndrome 71 0.058
80
HYP042 Hypochondroplasia 69 0.058
81
P CNV004 Canavan Disease 67 0.058
82
HMH002 Hemihypertrophy 64 0.058
83
ARC007 Arachnoid Cysts 62 0.058
84
ACR008 Acrocallosal Syndrome 61 0.058
85
JCB001 Jacobsen Syndrome 60 0.058
86
c MCP009 Mucopolysaccharidosis Ii 58 0.058
87
P WVR001 Weaver Syndrome 57 0.058
88
P DND001 Dandy-Walker Syndrome 57 0.058
89
P OP3001 Opa3-Related 3-Methylglutaconic Aciduria 57 0.058
90
P PLY006 Polydactyly 56 0.058
91
P HLP012 Holoprosencephaly-3 56 0.058
92
HMM003 Hemimegalencephaly 54 0.058
93
c STS001 Sotos Syndrome 53 0.058
94
TRP014 Triploidy 53 0.058
95
THR013 Thoracic Outlet Syndrome 52 0.058
96
P L2H001 L-2-Hydroxyglutaric Aciduria 51 0.058
97
P SZR006 Seizure Disorder 50 0.058
98
PGT004 Paget Disease, Juvenile 50 0.058
99
P GLT012 Glutaric Acidemia Type I 49 0.058
100
c OPT004 Optic Atrophy 49 0.058
101
PRP016 Paraplegia 47 0.058
102
P SMP004 Simpson-Golabi-Behmel Syndrome Type 1 44 0.058
103
P RBN011 Robinow Syndrome, Autosomal Dominant 42 0.058
104
PHL006 Phelan-Mcdermid Syndrome 42 0.058
105
DNN002 Donnai-Barrow Syndrome 40 0.058
106
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 40 0.058
107
CRB009 Cerebritis 38 0.058
108
P STS008 Sotos Syndrome 1 37 0.058
109
NNT023 Neonatal Progeroid Syndrome 35 0.058
110
HYP264 Hypertonia 35 0.058
111
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 34 0.058
112
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 34 0.058
113
SCH030 Schneckenbecken Dysplasia 33 0.058
114
c RBN009 Robinow Syndrome, Autosomal Recessive 33 0.058
115
c MNN025 Mannosidosis, Alpha-, Types I and Ii 32 0.058
116
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 31 0.058
117
LNZ002 Lenz Majewski Hyperostotic Dwarfism 31 0.058
118
c CNG085 Congenital Disorder of Glycosylation Type 2d 31 0.058
119
XLN064 X-Linked Syndromic Mental Retardation, Claes-Jensen Type 27 0.058
120
AGN008 Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia 24 0.058
121
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 24 0.058
122
P CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 23 0.058
123
OCL039 Oculoectodermal Syndrome 23 0.058
124
ACR002 Acrocapitofemoral Dysplasia 22 0.058
125
P MNT109 Mental Retardation, X-Linked, Syndromic 15 21 0.058
126
CHR246 Chromosome 3q29 Microduplication Syndrome 21 0.058
127
MGL027 Megalocornea-Intellectual Disability Syndrome 20 0.058
128
EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 19 0.058
129
ATK001 Atkin Syndrome 18 0.058
130
RDL024 Radio-Ulnar Synostosis - Intellectual Disability - Hypotonia 18 0.058
131
SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 14 0.058
132
GNG024 Gingival Fibromatosis - Facial Dysmorphism 12 0.058
133
P TYS001 Tay-Sachs Disease 83 0.048
134
CLD001 Cleidocranial Dysplasia 79 0.048
135
ACH004 Achondroplasia 79 0.048
136
P MCP002 Mucopolysaccharidosis I 78 0.048
137
ANK002 Ankylosing Spondylitis 76 0.048
138
P JVN014 Juvenile Polyposis Syndrome 75 0.048
139
MCC001 Mccune Albright Syndrome 75 0.048
140
c OST001 Osteopetrosis 75 0.048
141
c HLP001 Holoprosencephaly 68 0.048
142
MCK007 Muckle-Wells Syndrome 67 0.048
143
c AMY001 Amyotrophic Lateral Sclerosis 66 0.048
144
c MCP004 Mucopolysaccharidosis Iv 66 0.048
145
CMP005 Campomelic Dysplasia 65 0.048
146
STT001 Status Epilepticus 65 0.048
147
ART019 Aortic Valve Stenosis 63 0.048
148
c AMY077 Amyotrophic Lateral Sclerosis Type 18 63 0.048
149
DFC004 Deficiency Anemia 62 0.048
150
c OST110 Osteogenesis Imperfecta, Type Xv 62 0.048
151
c BRC006 Brachydactyly 60 0.048
152
DST005 Diastrophic Dysplasia 60 0.048
153
P AMY074 Amyotrophic Lateral Sclerosis Type 14 59 0.048
154
HWK001 Hawkinsinuria 59 0.048
155
ALP008 Alopecia 59 0.048
156
BRJ001 Borjeson-Forssman-Lehmann Syndrome 57 0.048
157
P CRN012 Craniometaphyseal Dysplasia 57 0.048
158
MCS001 Mucosulfatidosis 57 0.048
159
MLB001 Mulibrey Nanism 57 0.048
160
c CTS001 Cutis Laxa 57 0.048
161
ART001 Arterial Tortuosity Syndrome 55 0.048
162
c TRM003 Tremor 55 0.048
163
CCH002 Coach Syndrome 54 0.048
164
PLY012 Polyhydramnios 54 0.048
165
HMP005 Hemiplegia 52 0.048
166
c CRD167 Cardiofaciocutaneous Syndrome 4 52 0.048
167
CRN014 Cronkhite-Canada Syndrome 52 0.048
168
HJD001 Hajdu-Cheney Syndrome 51 0.048
169
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 51 0.048
170
LGS001 Legius Syndrome 50 0.048
171
JVN016 Juvenile Hyaline Fibromatosis 49 0.048
172
SGT001 Sagittal Sinus Thrombosis 49 0.048
173
c GGN002 Gigantism 47 0.048
174
c BRC013 Brachydactyly Type E 46 0.048
175
EPL002 Epilepsy Syndrome 45 0.048
176
ARC002 Arachnoiditis 44 0.048
177
CHR282 Chronic Infantile Neurological Cutaneous Articular Syndrome 43 0.048
178
P OST052 Osteopetrosis Autosomal Recessive 2 42 0.048
179
c PRX056 Peroxisome Biogenesis Disorder 11b 42 0.048
180
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 42 0.048
181
c SPN121 Spondylocostal Dysostosis 1 41 0.048
182
c MYP006 Myopia 41 0.048
183
RHB022 Rhabdoid Tumors, Somatic 41 0.048
184
c THN002 Thanatophoric Dysplasia Type 2 39 0.048
185
FGS001 Fg Syndrome 38 0.048
186
c ACH009 Achondrogenesis Type Ib 36 0.048
187
IMM088 Immunodeficiency 36 36 0.048
188
ENC010 Encephalocraniocutaneous Lipomatosis 36 0.048
189
P 2Q3002 2q37 Microdeletion Syndrome 36 0.048
190
P MYP018 Myopia 6 36 0.048
191
ENP001 Enophthalmos 35 0.048
192
15Q001 15q13.3 Microdeletion 34 0.048
193
DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 34 0.048
194
PLY024 Polymicrogyria 33 0.048
195
c OST050 Osteopetrosis Autosomal Dominant Type 2 31 0.048
196
c SPN274 Spondylocostal Dysostosis 5, Autosomal Dominant 31 0.048
197
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 30 0.048
198
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 30 0.048
199
c OST051 Osteopetrosis Autosomal Recessive 1 29 0.048
200
DND007 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 29 0.048
201
DYS045 Dysosteosclerosis 28 0.048
202
TMT003 Temtamy Syndrome 28 0.048
203
PRM056 Primrose Syndrome 28 0.048
204
3Q2001 3q29 Deletion Syndrome 27 0.048
205
c CRN217 Craniosynostosis 3 27 0.048
206
P SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 26 0.048
207
LBN004 Liebenberg Syndrome 25 0.048
208
LMB011 Limb Deficiencies Distal with Micrognathia 24 0.048
209
c FRN037 Frontal Encephalocele 23 0.048
210
FNT003 Fountain Syndrome 23 0.048
211
CRN083 Craniofacial Dyssynostosis 23 0.048
212
SYN057 Syndromic Intellectual Disability 23 0.048
213
c 3Q1001 3q13 Microdeletion Syndrome 22 0.048
214
c CHR224 Chromosome 1q Duplication 22 0.048
215
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 22 0.048
216
SMM003 Summitt Syndrome 21 0.048
217
ARM005 Armfield Syndrome 21 0.048
218
PSD008 Pseudopapilledema 21 0.048
219
NSD003 Nasodigitoacoustic Syndrome 20 0.048
220
HYD023 Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 20 0.048
221
PYK001 Pyknoachondrogenesis 20 0.048
222
CRN087 Craniomicromelic Syndrome 20 0.048
223
SGM007 Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus 19 0.048
224
c CHR252 Chromosome 5p Duplication 19 0.048
225
c MNS011 Monosomy 9q22.3 19 0.048
226
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 19 0.048
227
15Q004 15q11q13 Microduplication Syndrome 18 0.048
228
OST047 Osteopenia and Sparse Hair 18 0.048
229
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 17 0.048
230
MSC026 Muscular Dystrophy White Matter Spongiosis 17 0.048
231
SPN113 Spinocerebellar Ataxia with Dysmorphism 17 0.048
232
6Q1001 6q16 Deletion Syndrome 16 0.048
233
LTH005 Lethal Chondrodysplasia Moerman Type 16 0.048
234
c SVR048 Severe Canavan Disease 16 0.048
235
PRX069 Proximal 16p11.2 Microdeletion Syndrome 16 0.048
236
DST055 Distal 22q11.2 Microduplication Syndrome 16 0.048
237
ECT071 Ectodermal Dysplasia - Intellectual Disability - Central Nervous System Malformation 16 0.048
238
20P001 20p12.3 Microdeletion Syndrome 16 0.048
239
10Q001 10q22.3q23.3 Microdeletion Syndrome 15 0.048
240
MTP024 Metaphyseal Dysostosis - Intellectual Disability - Conductive Deafness 15 0.048
241
ERL022 Early-Onset Parkinsonism - Intellectual Disability 15 0.048
242
LNR012 Linear Verrucous Nevus Syndrome 14 0.048
243
CRB071 Cerebral Gigantism Jaw Cysts 14 0.048
244
CRN203 Craniometadiaphyseal Dysplasia, Wormian Bone Type 14 0.048
245
THN008 Thin Ribs - Tubular Bones - Dysmorphism 13 0.048
246
OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 13 0.048
247
ISL030 Isolated Cerebellar Hypoplasia/agenesis 13 0.048
248
c RBN010 Robinow-Like Syndrome 12 0.048
249
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 11 0.048
250
TRP011 Triopia 11 0.048
251
EPM003 Epimetaphyseal Skeletal Dysplasia 11 0.048
252
P LVR011 Liver Cancer 90 0.034
253
P HYP075 Hypertension 85 0.034
254
P RTN024 Retinoblastoma 83 0.034
255
P OST002 Osteoporosis 76 0.034
256
P ALX003 Alexander Disease 76 0.034
257
SKN016 Skin Disease 74 0.034
258
MNK001 Menkes Disease 74 0.034
259
P PRD006 Prader-Willi Syndrome 73 0.034
260
c PRM002 Primary Hyperoxaluria 73 0.034
261
P FCL005 Focal Segmental Glomerulosclerosis 72 0.034
262
c CWD001 Cowden Disease 71 0.034
263
PRT036 Peritonitis 71 0.034
264
CHR029 Choroid Plexus Papilloma 71 0.034
265
P NJM001 Nijmegen Breakage Syndrome 70 0.034
266
ATS001 Autistic Disorder 70 0.034
267
c MCP005 Mucopolysaccharidosis Vi 70 0.034
268
P HMN010 Hemangioma 70 0.034
269
P NRB001 Neuroblastoma 70 0.034
270
c JBR001 Joubert Syndrome 69 0.034
271
PTR006 Peters Plus Syndrome 68 0.034
272
ANT006 Antiphospholipid Syndrome 68 0.034
273
CLB001 Coloboma 68 0.034
274
P RCK004 Rickets 67 0.034
275
SPN038 Spina Bifida 66 0.034
276
P CRD013 Cardiofaciocutaneous Syndrome 66 0.034
277
LGG001 Legg-Calve-Perthes Disease 66 0.034
278
P HYP056 Hypoglycemia 66 0.034
279
P BSL007 Basal Cell Carcinoma 66 0.034
280
P FNC001 Fanconi's Anemia 65 0.034
281
SND001 Sandhoff Disease 64 0.034
282
FMR011 Fumarate Hydratase Deficiency 63 0.034
283
P ESP024 Esophagitis 63 0.034
284
VCT001 Vacterl Association 62 0.034
285
SLY001 Sly Syndrome 62 0.034
286
VGN023 Vaginitis 62 0.034
287
P SCH018 Schizencephaly 61 0.034
288
DBF001 D-Bifunctional Protein Deficiency 61 0.034
289
c DYS154 Dystonia 60 0.034
290
OLG003 Oligohydramnios 59 0.034
291
c DMN001 Diamond-Blackfan Anemia 59 0.034
292
P CFF001 Coffin-Siris Syndrome 59 0.034
293
CRB021 Cerebral Malaria 59 0.034
294
P HYP080 Hypogonadism 59 0.034
295
NRC020 Neuroectodermal Tumor 59 0.034
296
c TRT010 Teratoma 58 0.034
297
CTN014 Cutaneous Mastocytosis 58 0.034
298
MYC002 Mycobacterium Avium Complex Disease 58 0.034
299
SMT015 Smith Magenis Syndrome 58 0.034
300
P JBR004 Joubert Syndrome 2 57 0.034
301
ESP020 Esophageal Atresia 57 0.034
302
SCN006 Secondary Syphilis 56 0.034
303
ANK001 Ankylosis 56 0.034
304
MCR103 Microtia 56 0.034
305
c HYP060 Hyperinsulinism 56 0.034
306
P FNC025 Fanconi Anemia, Complementation Group J 55 0.034
307
P HYP040 Hypospadias 54 0.034
308
P DWR001 Dwarfism 54 0.034
309
c ACR001 Aicardi-Goutieres Syndrome 54 0.034
310
c SYN005 Synostosis 54 0.034
311
NRF008 Neurofibromatosis-Noonan Syndrome 53 0.034
312
MCR013 Microphthalmia 53 0.034
313
END020 Endocardial Fibroelastosis 53 0.034
314
INT075 Intracranial Hypertension 52 0.034
315
BLN003 Blindness 52 0.034
316
c LKD001 Leukodystrophy 52 0.034
317
c LYM025 Lymphedema 52 0.034
318
P CHL106 Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 52 0.034
319
P CNG001 Congenital Myasthenic Syndrome 52 0.034
320
OST011 Osteomalacia 52 0.034
321
IMP002 Imperforate Anus 51 0.034
322
P PLG001 Pelger-Huet Anomaly 50 0.034
323
c CNT035 Central Nervous System Disease 48 0.034
324
TRC040 Tracheoesophageal Fistula 48 0.034
325
DYS157 Dysplasminogenemia 47 0.034
326
P MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 47 0.034
327
P ATR066 Atrial Septal Defect 2 47 0.034
328
AMB002 Amblyopia 46 0.034
329
P D2H001 D-2-Hydroxyglutaric Aciduria 46 0.034
330
RVL002 Ruvalcaba Syndrome 46 0.034
331
P CRB088 Cerebral Atrophy 46 0.034
332
PLT012 Platyspondylic Lethal Skeletal Dysplasia Torrance Type 45 0.034
333
ANR040 Aneurysm 45 0.034
334
XLN011 X-Linked Centronuclear Myopathy 44 0.034
335
P BRT034 Bartter Syndrome, Type 2 43 0.034
336
TTH002 Tooth Agenesis 42 0.034
337
MNT189 Mental Retardation, X-Linked 29 and Others 42 0.034
338
CRB002 Cerebral Primitive Neuroectodermal Tumor 42 0.034
339
PTN006 Pten Hamartoma Tumor Syndrome 41 0.034
340
P BRD031 Bardet-Biedl Syndrome 1, Modifier of 41 0.034
341
c PNT019 Pontocerebellar Hypoplasia 41 0.034
342
P EHL043 Ehlers-Danlos Syndrome, Progeroid Type, 1 41 0.034
343
TTH016 Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 40 0.034
344
AND001 Anodontia 39 0.034
345
CRB045 Cerebellar Hypoplasia 39 0.034
346
HYD028 Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia 39 0.034
347
TTH001 Tooth Ankylosis 39 0.034
348
P SPS020 Spastic Paraplegia 1 38 0.034
349
HYD001 Hydranencephaly 38 0.034
350
MLY006 Molybdenum Cofactor Deficiency a 38 0.034
351
ANG037 Angiomatosis 38 0.034
352
P MCR210 Microphthalmia, Isolated, with Coloboma 7 37 0.034
353
c NNN011 Noonan Syndrome 4 37 0.034
354
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 37 0.034
355
TRS007 Trismus-Pseudocamptodactyly Syndrome 37 0.034
356
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 37 0.034
357
ANN001 Anonychia Congenita 37 0.034
358
c MCP012 Mucopolysaccharidosis Ih 36 0.034
359
IPX001 Ipex Syndrome 36 0.034
360
SKL017 Skeletal Dysplasias 35 0.034
361
c GLT023 Glutaric Acidemia Iic 35 0.034
362
BMR002 Beemer-Langer Syndrome 33 0.034
363
BDY001 Body Dysmorphic Disorder 33 0.034
364
c CNG082 Congenital Disorder of Glycosylation Type 2a 33 0.034
365
c TTR017 Tetrasomy 12p 33 0.034
366
c CRN013 Craniodiaphyseal Dysplasia 32 0.034
367
P ANP018 Anophthalmia Plus Syndrome 32 0.034
368
NNN014 Noonan-Like Syndrome with Loose Anagen Hair 31 0.034
369
P ATR010 Atrial Heart Septal Defect 31 0.034
370
P KNN005 Kenny-Caffey Syndrome Type 2 30 0.034
371
DHW001 De Hauwere Syndrome 30 0.034
372
P ARC016 Auriculocondylar Syndrome 1 30 0.034
373
c PNT010 Pontocerebellar Hypoplasia Type 1 30 0.034
374
12Q002 12q14 Microdeletion Syndrome 29 0.034
375
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 29 0.034
376
MNT036 Mental Retardation X-Linked with Cerebellar Hypoplasia and Distinctive Facial Appearance 28 0.034
377
HRT011 Heart Septal Defect 27 0.034
378
ANT054 Anotia 26 0.034
379
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 25 0.034
380
MCR105 Macrostomia 25 0.034
381
c CRN221 Craniosynostosis 4 25 0.034
382
MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 25 0.034
383
c NNN013 Noonan Syndrome 6 25 0.034
384
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 24 0.034
385
CMP011 Campomelic Dysplasia with Autosomal Sex Reversal 23 0.034
386
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 23 0.034
387
ART007 Aorta Atresia 22 0.034
388
ATR055 Atrial Septal Aneurysm 22 0.034
389
INT147 Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 22 0.034
390
c BNG076 Benign Exophthalmos Syndrome 22 0.034
391
MCR163 Microphthalmia with Linear Skin Defects Syndrome 22 0.034
392
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 21 0.034
393
HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 21 0.034
394
PSD027 Pseudoaminopterin Syndrome 21 0.034
395
c LSS025 Lissencephaly 5 21 0.034
396
CRN049 Craniolenticulosutural Dysplasia 21 0.034
397
ANR019 Anorectal Atresia 20 0.034
398
c MLG049 Malignant Syringoma 20 0.034
399
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 20 0.034
400
17Q003 17q11.2 Microduplication Syndrome 20 0.034
401
c BRC033 Brachydactyly Type A3 19 0.034
402
c OST065 Osteogenesis Imperfecta Type X 19 0.034
403
P MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 19 0.034
404
CRB135 Cerebro-Oculo-Nasal Syndrome 19 0.034
405
FGS002 Fg Syndrome 2 19 0.034
406
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 19 0.034
407
DND013 Dandy-Walker Malformation with Postaxial Polydactyly 19 0.034
408
CMM015 Commissural Facial Cleft 19 0.034
409
MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 19 0.034
410
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 18 0.034
411
c CRN110 Cranioectodermal Dysplasia 3 18 0.034
412
c ADM007 Adams-Oliver Syndrome 2 18 0.034
413
MLY005 Molybdenum Cofactor Deficiency B 18 0.034
414
c PRX059 Peroxisome Biogenesis Disorder 1a 18 0.034
415
CLP002 Colpocephaly 18 0.034
416
BBB001 Bobble-Head Doll Syndrome 18 0.034
417
MNT069 Mental Retardation with Language Impairment and Autistic Features 17 0.034
418
P 5P1001 5p13 Microduplication Syndrome 17 0.034
419
FLS001 Fils Syndrome 17 0.034
420
c NNN021 Noonan Syndrome 8 17 0.034
421
HYP277 Hypothalamic Hamartomas, Somatic 17 0.034
422
c HLP011 Holoprosencephaly-7 17 0.034
423
SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 17 0.034
424
SHR023 Short Stature Syndrome, Brussels Type 16 0.034
425
c DSB005 Desbuquois Dysplasia 2 16 0.034
426
c ARC011 Auriculocondylar Syndrome 2 16 0.034
427
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 15 0.034
428
ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 15 0.034
429
INT250 Intellectual Disability-Obesity-Prognathism-Eye and Skin Anomalies Syndrome 15 0.034
430
1P3002 1p31p32 Microdeletion Syndrome 15 0.034
431
c OST106 Osteopetrosis, Autosomal Recessive 8 14 0.034
432
SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 14 0.034
433
ECT022 Ectodermal Dysplasia with Natal Teeth Turnpenny Type 14 0.034
434
LRS006 Larsen-Like Osseous Dysplasia - Short Stature 14 0.034
435
c BRT028 Brittle Cornea Syndrome 1 14 0.034
436
XLN108 X-Linked Intellectual Disability Due to Gria3 Anomalies 13 0.034
437
XLN115 X-Linked Intellectual Disability, Kroes Type 13 0.034
438
1Q2002 1q21.1 Deletion 12 0.034
439
HYP312 Hypophosphatemic Rickets and Hyperparathyroidism 12 0.034
440
c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 12 0.034
441
P SCL042 Sclerosteosis 2 12 0.034
442
c STS007 Sotos Syndrome 2 12 0.034
443
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 12 0.034
444
PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 11 0.034