Search results for "macrocephaly"

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

555 hits were found for 'macrocephaly'

# Family MCID Name MIFTS Score
1
MCR096 Macrocephaly/autism Syndrome 23 4.531
2
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 34 4.523
3
MCR221 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 20 4.228
4
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 28 4.210
5
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 56 3.606
6
MMS001 Momo Syndrome 23 3.239
7
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 33 3.239
8
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 15 3.239
9
PRT093 Proteus Syndrome, Somatic 54 3.219
10
FRY007 Fryns Macrocephaly 13 3.219
11
SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 12 3.209
12
MCR031 Macrocephaly, Benign Familial 10 2.779
13
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 22 2.766
14
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 4 2.766
15
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 20 2.358
16
PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 15 2.308
17
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3 2.297
18
MNT139 Mental Retardation, X-Linked Syndromic, Turner Type 22 2.284
19
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 23 2.253
20
BGT001 Bagatelle Cassidy Syndrome 4 2.233
21
MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 10 1.668
22
DND008 Dandy-Walker Malformation Associated with Macrocephaly, Facial Anomalies, Developmental Delay, and Brain Stem Dysgenesis 4 1.655
23
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4 1.655
24
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 14 1.655
25
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 22 1.640
26
TNR001 Tenorio Syndrome 21 1.640
27
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 12 1.640
28
MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 2 1.640
29
c MNT216 Mental Retardation, Autosomal Recessive 41 20 1.624
30
KNS006 Kniest-Like Dysplasia, Lethal 15 1.624
31
ZRS001 Zori Stalker Williams Syndrome 5 1.624
32
CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 5 1.624
33
OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 9 1.624
34
MCR313 Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome 5 1.624
35
XLN213 X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome 3 1.624
36
SMT020 Smith-Kingsmore Syndrome 18 1.605
37
c MNT239 Mental Retardation, Autosomal Dominant 35 17 1.605
38
CLR029 Clark-Baraitser Syndrome 11 1.605
39
c FCS008 Fucosidosis Type 1 9 1.579
40
CTS011 Cutis Marmorata Telangiectatica Congenita 31 0.158
41
P INT063 Intellectual Disability 46 0.140
42
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 32 0.114
43
P OBS005 Obesity 91 0.091
44
MGL013 Megalencephaly 50 0.091
45
P SHR029 Short Syndrome 60 0.086
46
P ATS007 Autism Spectrum Disorder 64 0.081
47
P HYP265 Hypotonia 39 0.081
48
P THN009 Thanatophoric Dysplasia, Type I 62 0.075
49
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 50 0.075
50
GRG001 Greig Cephalopolysyndactyly Syndrome 53 0.075
51
P HYD006 Hydrocephalus 68 0.075
52
c CWD006 Cowden Syndrome 1 43 0.075
53
P MLT007 Multiple Epiphyseal Dysplasia 50 0.075
54
OPS002 Opsismodysplasia 32 0.075
55
PRP016 Paraplegia 49 0.075
56
MTC007 Mitochondrial Complex I Deficiency 61 0.068
57
OST022 Osteopathia Striata with Cranial Sclerosis 34 0.068
58
HYP622 Hypertrichotic Osteochondrodysplasia 38 0.068
59
P SCL018 Scoliosis 56 0.068
60
CRB009 Cerebritis 36 0.068
61
GLT021 Glutaricaciduria, Type I 47 0.061
62
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 58 0.061
63
MVD001 Moved to 60 0.061
64
P WVR001 Weaver Syndrome 54 0.061
65
P STS008 Sotos Syndrome 1 49 0.061
66
P CRD013 Cardiofaciocutaneous Syndrome 65 0.061
67
ACR008 Acrocallosal Syndrome 51 0.061
68
MNK003 Muenke Syndrome 55 0.061
69
DND001 Dandy-Walker Syndrome 42 0.061
70
c L2H001 L-2-Hydroxyglutaric Aciduria 42 0.061
71
HYP691 Hypomelanosis of Ito 44 0.061
72
P MYP006 Myopia 58 0.061
73
EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 19 0.061
74
CHR225 Chromosome 1q21.1 Duplication Syndrome 21 0.061
75
PRM056 Primrose Syndrome 32 0.061
76
P ANT006 Antiphospholipid Syndrome 60 0.061
77
WTS001 Watson Syndrome 29 0.061
78
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 38 0.061
79
P SYN001 Syndactyly 49 0.061
80
AYM001 Ayme-Gripp Syndrome 40 0.061
81
P EPL164 Epilepsy 60 0.061
82
BDY001 Body Dysmorphic Disorder 41 0.061
83
SPS057 Spasticity 41 0.061
84
HMH002 Hemihypertrophy 37 0.061
85
VSL002 Visual Epilepsy 30 0.061
86
P FRG001 Fragile X Syndrome 68 0.053
87
c MCP009 Mucopolysaccharidosis Ii 62 0.053
88
CMP005 Campomelic Dysplasia 60 0.053
89
P CNV004 Canavan Disease 55 0.053
90
CST001 Costello Syndrome 68 0.053
91
P CWD001 Cowden Disease 63 0.053
92
P ALX003 Alexander Disease 64 0.053
93
BSL036 Basal Cell Nevus Syndrome 65 0.053
94
JCB001 Jacobsen Syndrome 49 0.053
95
PHL006 Phelan-Mcdermid Syndrome 47 0.053
96
PGT008 Paget Disease of Bone 5, Juvenile-Onset 42 0.053
97
c MNN025 Mannosidosis, Alpha-, Types I and Ii 54 0.053
98
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 39 0.053
99
c OST126 Osteopetrosis, Autosomal Recessive 1 34 0.053
100
LGS001 Legius Syndrome 50 0.053
101
WSM002 Waisman Syndrome 33 0.053
102
WLK001 Walker-Warburg Syndrome 55 0.053
103
DNN002 Donnai-Barrow Syndrome 36 0.053
104
HYP042 Hypochondroplasia 55 0.053
105
c MNT109 Mental Retardation, X-Linked, Syndromic 15 30 0.053
106
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 39 0.053
107
P D2H001 D-2-Hydroxyglutaric Aciduria 45 0.053
108
c RBN009 Robinow Syndrome, Autosomal Recessive 31 0.053
109
NNN014 Noonan-Like Syndrome with Loose Anagen Hair 32 0.053
110
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 26 0.053
111
OPT054 Opitz-Kaveggia Syndrome 29 0.053
112
P MCR010 Microcephaly 60 0.053
113
DSM002 Desmosterolosis 31 0.053
114
SCH030 Schneckenbecken Dysplasia 33 0.053
115
c CNG187 Congenital Disorder of Glycosylation, Type Iid 32 0.053
116
P HLP001 Holoprosencephaly 62 0.053
117
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 24 0.053
118
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 23 0.053
119
ALP008 Alopecia 56 0.053
120
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 32 0.053
121
P CTS001 Cutis Laxa 57 0.053
122
ACR002 Acrocapitofemoral Dysplasia 35 0.053
123
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 24 0.053
124
TMP012 Temple Syndrome 39 0.053
125
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 20 0.053
126
CRP010 Corpus Callosum Agenesis 38 0.053
127
TRP014 Triploidy 39 0.053
128
PTN006 Pten Hamartoma Tumor Syndrome 35 0.053
129
ATK002 Atkin-Flaitz Syndrome 15 0.053
130
FBR087 Fibromatosis, Gingival, with Distinctive Facies 16 0.053
131
MGL033 Megalocornea-Mental Retardation Syndrome 22 0.053
132
P MGL022 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 35 0.053
133
ANR040 Aneurysm 56 0.053
134
RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 16 0.053
135
P CRN013 Craniodiaphyseal Dysplasia 42 0.053
136
CHR582 Chromosome 3q29 Duplication Syndrome 14 0.053
137
GGN002 Gigantism 29 0.053
138
SKL017 Skeletal Dysplasias 41 0.053
139
STR067 Stroke, Ischemic 74 0.043
140
P TYS001 Tay-Sachs Disease 72 0.043
141
c MCP037 Mucopolysaccharidosis is 65 0.043
142
P OST002 Osteoporosis 63 0.043
143
P OST005 Osteogenesis Imperfecta 68 0.043
144
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 49 0.043
145
c MCP004 Mucopolysaccharidosis Iv 60 0.043
146
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 58 0.043
147
P CMR001 Camurati-Engelmann Disease 63 0.043
148
WLL001 Williams-Beuren Syndrome 61 0.043
149
P CLD001 Cleidocranial Dysplasia 62 0.043
150
P HRD008 Hereditary Hemorrhagic Telangiectasia 72 0.043
151
MLT135 Multiple Sulfatase Deficiency 52 0.043
152
P PLM037 Pulmonary Hypertension 78 0.043
153
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 51 0.043
154
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 45 0.043
155
CCH002 Coach Syndrome 53 0.043
156
c THR092 Thrombophilia Due to Thrombin Defect 56 0.043
157
ACH004 Achondroplasia 64 0.043
158
PLM033 Pulmonary Embolism 59 0.043
159
MRF001 Marfan Syndrome 73 0.043
160
TTR001 Tetralogy of Fallot 69 0.043
161
c MSC124 Muscular Dystrophy, Congenital 57 0.043
162
BRJ001 Borjeson-Forssman-Lehmann Syndrome 52 0.043
163
MCK007 Muckle-Wells Syndrome 62 0.043
164
c THN010 Thanatophoric Dysplasia, Type Ii 50 0.043
165
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 45 0.043
166
c ACH035 Achondrogenesis Ib 46 0.043
167
c ACH033 Achondrogenesis, Type Ia 45 0.043
168
P SLV001 Silver-Russell Syndrome 54 0.043
169
c OST131 Osteopetrosis, Autosomal Dominant 2 40 0.043
170
DST005 Diastrophic Dysplasia 57 0.043
171
P SLL003 Salla Disease 44 0.043
172
MLB001 Mulibrey Nanism 46 0.043
173
PRL032 Perlman Syndrome 55 0.043
174
ENC044 Enchondromatosis, Multiple, Ollier Type 44 0.043
175
P GLM040 Glioma Susceptibility 1 46 0.043
176
MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 46 0.043
177
c PSD066 Pseudohypoparathyroidism, Type Ib 49 0.043
178
c THR082 Thrombophilia Due to Activated Protein C Resistance 57 0.043
179
c MNT230 Mental Retardation, X-Linked Syndromic 5 29 0.043
180
VNW007 Von Willebrand Disease 57 0.043
181
KLP010 Klippel-Trenaunay-Weber Syndrome 53 0.043
182
RHB022 Rhabdoid Tumors, Somatic 30 0.043
183
CHN054 Chondrodysplasia, Blomstrand Type 42 0.043
184
PLS030 Plasminogen Deficiency, Type I 35 0.043
185
P MYP004 Myopathy 67 0.043
186
VCT001 Vacterl Association 47 0.043
187
c NML014 Nemaline Myopathy 1, Autosomal Dominant or Recessive 34 0.043
188
P NML001 Nemaline Myopathy 47 0.043
189
P NPH005 Nephronophthisis 55 0.043
190
P CNG046 Congenital Fiber-Type Disproportion 49 0.043
191
TMT003 Temtamy Syndrome 27 0.043
192
CLD014 Cole Disease 38 0.043
193
PYL017 Pyle Disease 45 0.043
194
PRP027 Peripheral Vascular Disease 69 0.043
195
P MSC005 Muscular Dystrophy 64 0.043
196
P RTS001 Ritscher-Schinzel Syndrome 35 0.043
197
c BRT038 Baraitser-Winter Syndrome 1 30 0.043
198
P CHN012 Chondrosarcoma 57 0.043
199
P PLY006 Polydactyly 56 0.043
200
P AST007 Astrocytoma 66 0.043
201
CHR543 Chromosome 2q37 Deletion Syndrome 30 0.043
202
LYS001 Loeys-Dietz Syndrome 53 0.043
203
P CRN037 Craniosynostosis 66 0.043
204
INT007 Intermediate Coronary Syndrome 52 0.043
205
RYN001 Raynaud Disease 41 0.043
206
CHR355 Chromosome 15q13.3 Microdeletion Syndrome 34 0.043
207
c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 31 0.043
208
c BRC082 Brachydactyly, Type E 39 0.043
209
MLT145 Multiple Enchondromatosis, Maffucci Type 48 0.043
210
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 25 0.043
211
c SPL024 Split-Hand/foot Malformation 3 28 0.043
212
FBR008 Fibrillary Astrocytoma 43 0.043
213
KGM001 Kagami-Ogata Syndrome 28 0.043
214
MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 22 0.043
215
c FNC032 Fanconi Anemia, Complementation Group B 41 0.043
216
c SPN330 Spondylocostal Dysostosis 5 34 0.043
217
PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 39 0.043
218
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 30 0.043
219
LBN004 Liebenberg Syndrome 28 0.043
220
SPT005 Spotted Fever 56 0.043
221
CNC002 Cinca Syndrome 55 0.043
222
MSC077 Muscle Eye Brain Disease 54 0.043
223
c HRD104 Hereditary Multiple Osteochondromas 42 0.043
224
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 34 0.043
225
FGS002 Fg Syndrome 2 29 0.043
226
P ENC018 Encephalopathy 59 0.043
227
P HML001 Hemolytic-Uremic Syndrome 50 0.043
228
P HRD001 Hereditary Multiple Exostoses 46 0.043
229
HRP007 Harp Syndrome 28 0.043
230
P CHN044 Chondrodysplasia Punctata Syndrome 34 0.043
231
IMP005 Impotence 49 0.043
232
FML089 Familial Thoracic Aortic Aneurysm and Dissection 42 0.043
233
c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 21 0.043
234
OST015 Osteochondrodysplasia 54 0.043
235
c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 29 0.043
236
SNS001 Sensorineural Hearing Loss 52 0.043
237
PGM001 Pigmented Villonodular Synovitis 48 0.043
238
PRG123 Progeroid Syndrome, Neonatal 23 0.043
239
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 42 0.043
240
AST006 Astigmatism 42 0.043
241
ARC007 Arachnoid Cysts 39 0.043
242
c CNG464 Congenital Myopathy 49 0.043
243
P THR015 Thrombophilia 59 0.043
244
CHR590 Chromosome 15q11-Q13 Duplication Syndrome 23 0.043
245
VTR016 Vater/vacterl Association 37 0.043
246
c CNT035 Central Nervous System Disease 60 0.043
247
P VNS003 Venous Insufficiency 53 0.043
248
HMM003 Hemimegalencephaly 47 0.043
249
MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 33 0.043
250
FNT003 Fountain Syndrome 26 0.043
251
c CWD004 Cowden Syndrome 5 28 0.043
252
c CWD008 Cowden Syndrome 6 26 0.043
253
DSS009 Disseminated Intravascular Coagulation 52 0.043
254
SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 20 0.043
255
CHR483 Chromosome 3q13.31 Deletion Syndrome 18 0.043
256
P THR005 Thrombotic Thrombocytopenic Purpura 55 0.043
257
c RBN017 Robinow Syndrome, Autosomal Dominant 2 29 0.043
258
c OST106 Osteopetrosis, Autosomal Recessive 8 21 0.043
259
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 28 0.043
260
TRC040 Tracheoesophageal Fistula 41 0.043
261
VCT007 Vacterl Association, X-Linked 19 0.043
262
PSD008 Pseudopapilledema 39 0.043
263
P THR003 Thoracic Aortic Aneurysm 57 0.043
264
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 17 0.043
265
OCL039 Oculoectodermal Syndrome 23 0.043
266
CHR594 Chromosome 3q29 Deletion Syndrome 21 0.043
267
IMM013 Immunodeficiency, Centromere Instability and Facial Anomalies Syndrome 30 0.043
268
EXS001 Exostosis 42 0.043
269
ARC002 Arachnoiditis 38 0.043
270
HPT046 Hepatic Veno-Occlusive Disease 46 0.043
271
NSD003 Nasodigitoacoustic Syndrome 17 0.043
272
MLT075 Multifocal Motor Neuropathy 40 0.043
273
ALR002 Al-Raqad Syndrome 36 0.043
274
DYS048 Dysplasia Epiphysealis Hemimelica 33 0.043
275
CHR252 Chromosome 5p Duplication 16 0.043
276
CHR224 Chromosome 1q Duplication 21 0.043
277
NNT017 Neonatal Adrenoleukodystrophy 45 0.043
278
P TRM003 Tremor 54 0.043
279
CHN010 Chondroma 39 0.043
280
P THR027 Thoracic Aortic Aneurysms and Aortic Dissections 41 0.043
281
c SPN081 Spondylocostal Dysostosis, Autosomal Recessive 36 0.043
282
TLN003 Telangiectasis 50 0.043
283
HYD002 Hydronephrosis 48 0.043
284
P 2HY001 2-Hydroxyglutaric Aciduria 29 0.043
285
c ADL008 Adult Oligodendroglioma 34 0.043
286
P MRC003 Mercury Poisoning 38 0.043
287
GNT001 Giant Cell Reparative Granuloma 41 0.043
288
DYS045 Dysosteosclerosis 22 0.043
289
CPM001 Cap Myopathy 32 0.043
290
HYP021 Hypercementosis 31 0.043
291
SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 13 0.043
292
VLL003 Villonodular Synovitis 40 0.043
293
P ACH011 Achondrogenesis 39 0.043
294
ARM006 Armfield X-Linked Mental Retardation Syndrome 17 0.043
295
BFD003 Bifid Uvula 40 0.043
296
CRN266 Craniofacial Dyssynostosis with Short Stature 15 0.043
297
CRN272 Craniometadiaphyseal Dysplasia 15 0.043
298
P PSD015 Pseudohypoparathyroidism 43 0.043
299
SPN012 Spindle Cell Hemangioma 31 0.043
300
SPN113 Spinocerebellar Ataxia with Dysmorphism 17 0.043
301
UNL013 Unilateral Absence of a Pulmonary Artery 22 0.043
302
CHR587 Chromosome 16p11.2 Deletion Syndrome, 593-Kb Autism, Susceptibility to, 14a, Included 14 0.043
303
P MSC002 Muscular Dystrophy-Dystroglycanopathy 24 0.043
304
CRB071 Cerebral Gigantism Jaw Cysts 12 0.043
305
20P001 20p12.3 Microdeletion Syndrome 13 0.043
306
CHR276 Chronic Active Epstein-Barr Virus Infection 45 0.043
307
INT016 Intraductal Papilloma 32 0.043
308
c INT274 Intermediate Congenital Nemaline Myopathy 19 0.043
309
MYC018 Mycobacterium Malmoense 29 0.043
310
CNG032 Congenital Structural Myopathy 28 0.043
311
HPT009 Hepatopulmonary Syndrome 48 0.043
312
ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 14 0.043
313
CHL107 Childhood-Onset Nemaline Myopathy 20 0.043
314
MSC026 Muscular Dystrophy White Matter Spongiosis 15 0.043
315
P FML218 Familial Mitral Valve Prolapse 31 0.043
316
c FRN037 Frontal Encephalocele 20 0.043
317
ANP009 Anaplastic Oligodendroglioma 37 0.043
318
INT012 Interval Angle-Closure Glaucoma 19 0.043
319
PLC004 Pilocytic Astrocytoma of Cerebellum 32 0.043
320
c SVR040 Severe Congenital Nemaline Myopathy 22 0.043
321
CRT008 Carotid Artery Dissection 38 0.043
322
FTD001 Foot Drop 34 0.043
323
ESN011 Eisenmenger Syndrome 45 0.043
324
LTH005 Lethal Chondrodysplasia Moerman Type 13 0.043
325
MRN001 Marantic Endocarditis 34 0.043
326
c SVR048 Severe Canavan Disease 14 0.043
327
TYP026 Typical Congenital Nemaline Myopathy 18 0.043
328
10Q001 10q22.3q23.3 Microdeletion Syndrome 14 0.043
329
6Q1001 6q16 Deletion Syndrome 14 0.043
330
ADL053 Adult Astrocytic Tumour 36 0.043
331
CLB026 Colobomatous Microphthalmia 28 0.043
332
JXT001 Juxtacortical Chondroma 26 0.043
333
THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 11 0.043
334
c PRG106 Progressive Muscular Dystrophy 40 0.043
335
CYT019 Cytogenetically Normal Acute Myeloid Leukemia 32 0.043
336
DST055 Distal 22q11.2 Microduplication Syndrome 13 0.043
337
CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 18 0.043
338
CNG427 Congenital Muscular Dystrophy with Intellectual Disability 18 0.043
339
CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 15 0.043
340
ISL062 Isolated Plagiocephaly 20 0.043
341
P OST028 Osteochondroma 45 0.043
342
PTR012 Paternal 14q32.2 Microdeletion Syndrome 11 0.043
343
MTR055 Maternal 14q32.2 Microdeletion Syndrome 11 0.043
344
SYN057 Syndromic Intellectual Disability 23 0.043
345
c ATS282 Autosomal Recessive Malignant Osteopetrosis 35 0.043
346
CLR005 Clear Cell Chondrosarcoma 38 0.043
347
MGK002 Megakaryocytic Tumor 32 0.043
348
THY007 Thymus Lipoma 24 0.043
349
ENC014 Enchondroma 27 0.043
350
ANG054 Angina Pectoris 48 0.043
351
ANG062 Angioosteohypertrophic Syndrome 14 0.043
352
EPM003 Epimetaphyseal Skeletal Dysplasia 10 0.043
353
LNR012 Linear Verrucous Nevus Syndrome 13 0.043
354
ISL030 Isolated Cerebellar Hypoplasia/agenesis 11 0.043
355
c RBN010 Robinow-Like Syndrome 11 0.043
356
PRS016 Periosteal Chondrosarcoma 32 0.043
357
IMM006 Immune System Organ Benign Neoplasm 26 0.043
358
P MNS011 Monosomy 9q22.3 15 0.043
359
SNR014 Senior-Boichis Syndrome 10 0.043
360
TRP011 Triopia 11 0.043
361
P VCT008 Vacterl with Hydrocephalus 17 0.043
362
c CHR096 Chronic Pulmonary Heart Disease 40 0.043
363
INT033 Intracranial Chondrosarcoma 22 0.043
364
P TRN016 Transient Hypogammaglobulinemia 33 0.043
365
OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 11 0.043
366
MTR056 Maternal 14q32.2 Hypermethylation Syndrome 9 0.043
367
SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 15 0.043
368
LMB062 Limb Ischemia 48 0.043
369
PTR013 Paternal 14q32.2 Hypomethylation Syndrome 8 0.043
370
CBB005 Cobblestone Lissencephaly 26 0.043
371
GRN039 Greenberg Skeletal Dysplasia 40 0.030
372
LKN001 Leukoencephalopathy with Vanishing White Matter 56 0.030
373
P NRB001 Neuroblastoma 70 0.030
374
P GLT023 Glutaric Acidemia Iic 51 0.030
375
c JBR020 Joubert Syndrome 1 57 0.030
376
P RTN024 Retinoblastoma 75 0.030
377
IMG001 Image Syndrome 54 0.030
378
c MCP024 Mucopolysaccharidosis Type Vi 61 0.030
379
MNK001 Menkes Disease 61 0.030
380
PTR006 Peters Anomaly 64 0.030
381
MSS001 Masa Syndrome 49 0.030
382
c MCP003 Mucopolysaccharidosis Vii 62 0.030
383
P ANG001 Angelman Syndrome 62 0.030
384
INC021 Incontinentia Pigmenti 57 0.030
385
PLY056 Polyposis, Juvenile Intestinal 54 0.030
386
P NJM001 Nijmegen Breakage Syndrome 68 0.030
387
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 31 0.030
388
CHR029 Choroid Plexus Papilloma 55 0.030
389
P DYS154 Dystonia 62 0.030
390
P NRF002 Neurofibromatosis 66 0.030
391
P PRD006 Prader-Willi Syndrome 64 0.030
392
P FCL005 Focal Segmental Glomerulosclerosis 59 0.030
393
c MCP012 Mucopolysaccharidosis Ih 41 0.030
394
P CRN012 Craniometaphyseal Dysplasia 49 0.030
395
c OST122 Osteogenesis Imperfecta, Type Iii 57 0.030
396
P CFF001 Coffin-Siris Syndrome 55 0.030
397
P DMN001 Diamond-Blackfan Anemia 69 0.030
398
FMR004 Fumarase Deficiency 38 0.030
399
c BRD010 Bardet-Biedl Syndrome 1 52 0.030
400
OST069 Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 31 0.030
401
c BRT034 Bartter Syndrome, Type 2 28 0.030
402
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 30 0.030
403
ART001 Arterial Tortuosity Syndrome 51 0.030
404
OTT002 Otitis Media 66 0.030
405
P EHL015 Ehlers-Danlos Syndrome Progeroid Type 39 0.030
406
c JBR004 Joubert Syndrome 2 31 0.030
407
c NRF018 Neurofibromatosis, Type 1 69 0.030
408
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 27 0.030
409
LPM004 Lipoma 59 0.030
410
c KNN007 Kenny-Caffey Syndrome, Type 2 26 0.030
411
NRF008 Neurofibromatosis-Noonan Syndrome 45 0.030
412
TRS007 Trismus-Pseudocamptodactyly Syndrome 33 0.030
413
P MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 35 0.030
414
MNT231 Mental Retardation, X-Linked Syndromic, Nascimento-Type 25 0.030
415
c OST136 Osteopetrosis, Autosomal Recessive 7 26 0.030
416
c OST129 Osteopetrosis, Autosomal Recessive 2 33 0.030
417
P SCH018 Schizencephaly 51 0.030
418
c CNG191 Congenital Disorder of Glycosylation, Type Iia 32 0.030
419
CRT037 Cortical Dysplasia-Focal Epilepsy Syndrome 29 0.030
420
c OST120 Osteopetrosis, Autosomal Recessive 5 26 0.030
421
c PNT010 Pontocerebellar Hypoplasia Type 1 41 0.030
422
PRT036 Peritonitis 65 0.030
423
P PLG001 Pelger-Huet Anomaly 46 0.030
424
MCR037 Macroglossia 45 0.030
425
MYT022 Myotubular Myopathy, X-Linked 32 0.030
426
c MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 33 0.030
427
DBF001 D-Bifunctional Protein Deficiency 47 0.030
428
c OST137 Osteopetrosis, Autosomal Recessive 4 24 0.030
429
c OST134 Osteopetrosis, Autosomal Recessive 6 29 0.030
430
MLY006 Molybdenum Cofactor Deficiency a 28 0.030
431
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 27 0.030
432
MLY005 Molybdenum Cofactor Deficiency B 22 0.030
433
P LKD001 Leukodystrophy 58 0.030
434
FGS004 Fg Syndrome 4 26 0.030
435
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.030
436
END020 Endocardial Fibroelastosis 44 0.030
437
HYP080 Hypogonadism 54 0.030
438
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 28 0.030
439
HYP056 Hypoglycemia 60 0.030
440
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 32 0.030
441
P HMN010 Hemangioma 62 0.030
442
c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 26 0.030
443
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 25 0.030
444
47X001 47,xyy Syndrome 30 0.030
445
c OST127 Osteogenesis Imperfecta, Type X 27 0.030
446
c BSL007 Basal Cell Carcinoma 66 0.030
447
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 25 0.030
448
c LSS025 Lissencephaly 5 23 0.030
449
FLS001 Fils Syndrome 28 0.030
450
HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 22 0.030
451
c NNN011 Noonan Syndrome 4 36 0.030
452
c CRN110 Cranioectodermal Dysplasia 3 23 0.030
453
P LFT003 Left Ventricular Noncompaction 48 0.030
454
LJN003 Lujan-Fryns Syndrome 28 0.030
455
P HYP040 Hypospadias 58 0.030
456
SHR098 Short-Rib Thoracic Dysplasia 12 25 0.030
457
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 22 0.030
458
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 33 0.030
459
P LYM025 Lymphedema 60 0.030
460
c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 23 0.030
461
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 24 0.030
462
SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 23 0.030
463
c HLP011 Holoprosencephaly-7 25 0.030
464
P OST001 Osteopetrosis 63 0.030
465
c STS007 Sotos Syndrome 2 27 0.030
466
CRN049 Craniolenticulosutural Dysplasia 22 0.030
467
P ARC016 Auriculocondylar Syndrome 1 44 0.030
468
c ADM007 Adams-Oliver Syndrome 2 22 0.030
469
OLG003 Oligohydramnios 52 0.030
470
c NNN013 Noonan Syndrome 6 27 0.030
471
c PRX059 Peroxisome Biogenesis Disorder 1a 27 0.030
472
SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 23 0.030
473
c NNN021 Noonan Syndrome 8 26 0.030
474
c CRN221 Craniosynostosis 4 28 0.030
475
c DSB005 Desbuquois Dysplasia 2 21 0.030
476
c MCR227 Microphthalmia, Syndromic 14 22 0.030
477
PLL008 Pallister-Killian Syndrome 32 0.030
478
c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 20 0.030
479
CHR366 Chromosome 5p13 Duplication Syndrome 24 0.030
480
c CWD003 Cowden Syndrome 2 34 0.030
481
ENC010 Encephalocraniocutaneous Lipomatosis 34 0.030
482
c ARC011 Auriculocondylar Syndrome 2 18 0.030
483
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 33 0.030
484
c CWD007 Cowden Syndrome 3 23 0.030
485
DRR004 Diarrhea 3, Secretory Sodium, Congenital, Syndromic 22 0.030
486
c BRT028 Brittle Cornea Syndrome 1 23 0.030
487
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 23 0.030
488
PLY012 Polyhydramnios 45 0.030
489
c SCL042 Sclerosteosis 2 22 0.030
490
PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 31 0.030
491
CLC055 Cole-Carpenter Syndrome 2 18 0.030
492
CHR383 Chromosome 1p32-P31 Deletion Syndrome 22 0.030
493
MGL003 Megalocornea 28 0.030
494
INT075 Intracranial Hypertension 52 0.030
495
HYD001 Hydranencephaly 35 0.030
496
MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 17 0.030
497
c RBN018 Robinow Syndrome, Autosomal Dominant 1 33 0.030
498
LRN003 Learning Disability 49 0.030
499
HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 16 0.030
500
c CWD005 Cowden Syndrome 4 23 0.030
501
c EHL043 Ehlers-Danlos Syndrome, Progeroid Type, 1 21 0.030
502
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 22 0.030
503
P PRN026 Porencephaly 47 0.030
504
SHR023 Short Stature Syndrome, Brussels Type 15 0.030
505
AMN014 Aminopterin Syndrome Sine Aminopterin 18 0.030
506
OST047 Osteopenia and Sparse Hair 15 0.030
507
c LRS002 Larsen-Like Syndrome 38 0.030
508
DND013 Dandy-Walker Malformation with Postaxial Polydactyly 17 0.030
509
P HYP060 Hyperinsulinism 58 0.030
510
ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 25 0.030
511
NRF007 Neurofibroma 53 0.030
512
SMM003 Summitt Syndrome 20 0.030
513
PYK001 Pyknoachondrogenesis 16 0.030
514
CHR190 Chromosome 12p Duplication 19 0.030
515
7Q1002 7q11.23 Duplication Syndrome 17 0.030
516
SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 17 0.030
517
P TRT010 Teratoma 49 0.030
518
PLX002 Plexiform Neurofibroma 42 0.030
519
P PNT019 Pontocerebellar Hypoplasia 39 0.030
520
GRW027 Growth Restriction, Severe, with Distinctive Facies 11 0.030
521
c LTH031 Lethal Congenital Contracture Syndrome 6 17 0.030
522
LVY002 Levy-Shanske Syndrome 20 0.030
523
PLY024 Polymicrogyria 34 0.030
524
P GLM045 Glioma 53 0.030
525
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 13 0.030
526
P CRB088 Cerebral Atrophy 40 0.030
527
LJN002 Lujan Syndrome 21 0.030
528
CRB164 Cerebrooculonasal Syndrome 15 0.030
529
HYP312 Hypophosphatemic Rickets and Hyperparathyroidism 17 0.030
530
MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 14 0.030
531
SKL014 Skeletal Dysplasia 44 0.030
532
c CWD009 Cowden Syndrome 7 14 0.030
533
ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 11 0.030
534
CHR360 Chromosome 4q32.1-Q32.2 Triplication Syndrome 9 0.030
535
RVL002 Ruvalcaba Syndrome 32 0.030
536
BBB001 Bobble-Head Doll Syndrome 16 0.030
537
CRN224 Craniofaciofrontodigital Syndrome 14 0.030
538
HYP277 Hypothalamic Hamartomas, Somatic 9 0.030
539
CRN087 Craniomicromelic Syndrome 16 0.030
540
SGT001 Sagittal Sinus Thrombosis 32 0.030
541
12Q002 12q14 Microdeletion Syndrome 25 0.030
542
CLP002 Colpocephaly 15 0.030
543
SYN005 Synostosis 44 0.030
544
c ATS082 Autosomal Dominant Robinow Syndrome 36 0.030
545
CRB002 Cerebral Primitive Neuroectodermal Tumor 42 0.030
546
1P2001 1p21.3 Microdeletion Syndrome 12 0.030
547
OPT032 Optic Pathway Glioma 25 0.030
548
ATR055 Atrial Septal Aneurysm 23 0.030
549
RPD008 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome Syndrome 15 0.030
550
ANG037 Angiomatosis 33 0.030
551
RHM015 Rhombencephalosynapsis 25 0.030
552
6QT002 6q Terminal Deletion Syndrome 15 0.030
553
SHK001 Shaken Baby Syndrome 17 0.030
554
VSC047 Vascular Malformation 45 0.030
555
1Q2002 1q21.1 Deletion 10 0.030