Search results for "macrocephaly"

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

568 hits were found for 'macrocephaly'

# Family MCID Name MIFTS Score
1
MCR096 Macrocephaly/autism Syndrome 29 4.474
2
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 32 4.466
3
MCR221 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 20 4.457
4
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 27 4.157
5
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 54 3.561
6
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 34 3.561
7
SZR019 Seizures-Scoliosis-Macrocephaly Syndrome 13 3.533
8
MMS001 Momo Syndrome 22 3.198
9
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 15 3.198
10
FRY007 Fryns Macrocephaly 12 3.179
11
PRT093 Proteus Syndrome, Somatic 55 3.169
12
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 19 2.805
13
MNT139 Mental Retardation, X-Linked Syndromic, Turner Type 22 2.756
14
MCR031 Macrocephaly, Benign Familial 9 2.744
15
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 21 2.731
16
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 3 2.731
17
PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 14 2.280
18
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3 2.268
19
MCR322 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 8 2.255
20
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 26 2.224
21
BGT001 Bagatelle Cassidy Syndrome 4 2.205
22
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 13 1.634
23
MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 10 1.634
24
DND008 Dandy-Walker Malformation Associated with Macrocephaly, Facial Anomalies, Developmental Delay, and Brain Stem Dysgenesis 4 1.634
25
TNR001 Tenorio Syndrome 23 1.620
26
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 21 1.620
27
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 12 1.620
28
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4 1.620
29
MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 2 1.620
30
c MNT216 Mental Retardation, Autosomal Recessive 41 19 1.604
31
KNS006 Kniest-Like Dysplasia, Lethal 15 1.604
32
OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 9 1.604
33
CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 5 1.604
34
MCR313 Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome 5 1.604
35
XLN213 X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome 3 1.604
36
MCR318 Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome 3 1.604
37
c MNT239 Mental Retardation, Autosomal Dominant 35 18 1.584
38
SMT020 Smith-Kingsmore Syndrome 18 1.584
39
CLR029 Clark-Baraitser Syndrome 11 1.584
40
ZRS001 Zori Stalker Williams Syndrome 4 1.584
41
c FCS008 Fucosidosis Type 1 10 1.559
42
CTS011 Cutis Marmorata Telangiectatica Congenita 30 0.157
43
P INT063 Intellectual Disability 53 0.121
44
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.090
45
P OBS005 Obesity 93 0.085
46
P CWD006 Cowden Syndrome 1 68 0.085
47
MGL013 Megalencephaly 51 0.080
48
P ATS007 Autism Spectrum Disorder 64 0.074
49
P THN009 Thanatophoric Dysplasia, Type I 62 0.074
50
GRG001 Greig Cephalopolysyndactyly Syndrome 52 0.074
51
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 51 0.074
52
P HYP265 Hypotonia 39 0.074
53
OPS002 Opsismodysplasia 32 0.074
54
P HYD006 Hydrocephalus 67 0.067
55
MTC007 Mitochondrial Complex I Deficiency 61 0.067
56
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 58 0.067
57
MNK003 Muenke Syndrome 55 0.067
58
P MLT007 Multiple Epiphyseal Dysplasia 51 0.067
59
P STS008 Sotos Syndrome 1 47 0.067
60
HYP622 Hypertrichotic Osteochondrodysplasia 38 0.067
61
OST022 Osteopathia Striata with Cranial Sclerosis 33 0.067
62
P EPL164 Epilepsy 66 0.060
63
P CRD013 Cardiofaciocutaneous Syndrome 63 0.060
64
P SHR029 Short Syndrome 60 0.060
65
P WVR001 Weaver Syndrome 51 0.060
66
ACR008 Acrocallosal Syndrome 51 0.060
67
P SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 48 0.060
68
GLT021 Glutaricaciduria, Type I 48 0.060
69
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.060
70
HYP691 Hypomelanosis of Ito 42 0.060
71
CRB009 Cerebritis 38 0.060
72
OPT054 Opitz-Kaveggia Syndrome 32 0.060
73
PRM056 Primrose Syndrome 32 0.060
74
WTS001 Watson Syndrome 29 0.060
75
CHR225 Chromosome 1q21.1 Duplication Syndrome 20 0.060
76
EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 19 0.060
77
CMP005 Campomelic Dysplasia 72 0.052
78
CST001 Costello Syndrome 69 0.052
79
P FRG001 Fragile X Syndrome 68 0.052
80
BSL036 Basal Cell Nevus Syndrome 65 0.052
81
P ALX003 Alexander Disease 64 0.052
82
P HLP001 Holoprosencephaly 62 0.052
83
c MCP009 Mucopolysaccharidosis Ii 62 0.052
84
P MCR010 Microcephaly 58 0.052
85
HYP042 Hypochondroplasia 57 0.052
86
P SCL018 Scoliosis 56 0.052
87
P CNV004 Canavan Disease 55 0.052
88
c MNN025 Mannosidosis, Alpha-, Types I and Ii 54 0.052
89
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53 0.052
90
LGS001 Legius Syndrome 53 0.052
91
PHL006 Phelan-Mcdermid Syndrome 51 0.052
92
PRP016 Paraplegia 49 0.052
93
JCB001 Jacobsen Syndrome 48 0.052
94
AYM001 Ayme-Gripp Syndrome 45 0.052
95
PGT008 Paget Disease of Bone 5, Juvenile-Onset 42 0.052
96
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 40 0.052
97
P CRN013 Craniodiaphyseal Dysplasia 40 0.052
98
TRP014 Triploidy 40 0.052
99
HMH002 Hemihypertrophy 39 0.052
100
ACR002 Acrocapitofemoral Dysplasia 36 0.052
101
DNN002 Donnai-Barrow Syndrome 34 0.052
102
c OST126 Osteopetrosis, Autosomal Recessive 1 33 0.052
103
WSM002 Waisman Syndrome 33 0.052
104
c RBN009 Robinow Syndrome, Autosomal Recessive 32 0.052
105
DSM002 Desmosterolosis 32 0.052
106
NNN014 Noonan-Like Syndrome with Loose Anagen Hair 32 0.052
107
c MNT109 Mental Retardation, X-Linked, Syndromic 15 31 0.052
108
SCH030 Schneckenbecken Dysplasia 31 0.052
109
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 31 0.052
110
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 27 0.052
111
c CNG187 Congenital Disorder of Glycosylation, Type Iid 26 0.052
112
CHR582 Chromosome 3q29 Duplication Syndrome 24 0.052
113
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 24 0.052
114
c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23 0.052
115
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 22 0.052
116
MGL033 Megalocornea-Mental Retardation Syndrome 22 0.052
117
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 20 0.052
118
FBR087 Fibromatosis, Gingival, with Distinctive Facies 15 0.052
119
RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 15 0.052
120
ATK002 Atkin-Flaitz Syndrome 15 0.052
121
P TYS001 Tay-Sachs Disease 71 0.043
122
TTR001 Tetralogy of Fallot 71 0.043
123
P OST005 Osteogenesis Imperfecta 67 0.043
124
c MCP037 Mucopolysaccharidosis is 66 0.043
125
ACH004 Achondroplasia 66 0.043
126
P CLD001 Cleidocranial Dysplasia 62 0.043
127
P OST001 Osteopetrosis 62 0.043
128
MCK007 Muckle-Wells Syndrome 61 0.043
129
P MYP006 Myopia 59 0.043
130
P CTS001 Cutis Laxa 59 0.043
131
P ENC018 Encephalopathy 59 0.043
132
c MCP004 Mucopolysaccharidosis Iv 59 0.043
133
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 58 0.043
134
ANR040 Aneurysm 57 0.043
135
CNC002 Cinca Syndrome 56 0.043
136
ALP008 Alopecia 55 0.043
137
PRL032 Perlman Syndrome 55 0.043
138
P PLY006 Polydactyly 55 0.043
139
P TRM003 Tremor 54 0.043
140
CCH002 Coach Syndrome 54 0.043
141
KLP010 Klippel-Trenaunay-Weber Syndrome 54 0.043
142
MLT135 Multiple Sulfatase Deficiency 53 0.043
143
BRJ001 Borjeson-Forssman-Lehmann Syndrome 52 0.043
144
DST005 Diastrophic Dysplasia 52 0.043
145
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 51 0.043
146
c THN010 Thanatophoric Dysplasia, Type Ii 49 0.043
147
NNT017 Neonatal Adrenoleukodystrophy 46 0.043
148
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 45 0.043
149
HMM003 Hemimegalencephaly 45 0.043
150
SKL017 Skeletal Dysplasias 45 0.043
151
MLB001 Mulibrey Nanism 44 0.043
152
P D2H001 D-2-Hydroxyglutaric Aciduria 44 0.043
153
c ACH035 Achondrogenesis Ib 44 0.043
154
DND001 Dandy-Walker Syndrome 44 0.043
155
PLS030 Plasminogen Deficiency, Type I 44 0.043
156
c ACH033 Achondrogenesis, Type Ia 43 0.043
157
SPS057 Spasticity 42 0.043
158
BDY001 Body Dysmorphic Disorder 41 0.043
159
CRP010 Corpus Callosum Agenesis 40 0.043
160
c OST131 Osteopetrosis, Autosomal Dominant 2 40 0.043
161
TMP012 Temple Syndrome 40 0.043
162
c BRC082 Brachydactyly, Type E 39 0.043
163
P ACH011 Achondrogenesis 38 0.043
164
ARC007 Arachnoid Cysts 38 0.043
165
PSD008 Pseudopapilledema 38 0.043
166
P EHL043 Ehlers-Danlos Syndrome, Progeroid Type, 1 38 0.043
167
ARC002 Arachnoiditis 38 0.043
168
IMM013 Immunodeficiency, Centromere Instability and Facial Anomalies Syndrome 36 0.043
169
CHR594 Chromosome 3q29 Deletion Syndrome 36 0.043
170
ALR002 Al-Raqad Syndrome 36 0.043
171
PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 36 0.043
172
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 36 0.043
173
c SPN330 Spondylocostal Dysostosis 5 35 0.043
174
P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 35 0.043
175
c ATS282 Autosomal Recessive Malignant Osteopetrosis 35 0.043
176
P RTS001 Ritscher-Schinzel Syndrome 32 0.043
177
VSL002 Visual Epilepsy 32 0.043
178
c MNT230 Mental Retardation, X-Linked Syndromic 5 32 0.043
179
CHR355 Chromosome 15q13.3 Microdeletion Syndrome 30 0.043
180
MPP001 Mpph Syndrome 29 0.043
181
CHR543 Chromosome 2q37 Deletion Syndrome 29 0.043
182
c RBN017 Robinow Syndrome, Autosomal Dominant 2 29 0.043
183
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 29 0.043
184
RHB022 Rhabdoid Tumors, Somatic 28 0.043
185
GGN002 Gigantism 27 0.043
186
FGS002 Fg Syndrome 2 27 0.043
187
FNT003 Fountain Syndrome 27 0.043
188
c SPL024 Split-Hand/foot Malformation 3 27 0.043
189
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 27 0.043
190
c CWD008 Cowden Syndrome 6 26 0.043
191
TMT003 Temtamy Syndrome 26 0.043
192
CHR595 Chromosome 10q23 Deletion Syndrome Juvenile Polyposis of Infancy, Included 25 0.043
193
c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 25 0.043
194
LBN004 Liebenberg Syndrome 25 0.043
195
c CWD004 Cowden Syndrome 5 24 0.043
196
ISL062 Isolated Plagiocephaly 24 0.043
197
CHR590 Chromosome 15q11-Q13 Duplication Syndrome 23 0.043
198
OCL039 Oculoectodermal Syndrome 23 0.043
199
PRG123 Progeroid Syndrome, Neonatal 23 0.043
200
MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 22 0.043
201
DYS045 Dysosteosclerosis 22 0.043
202
c OST106 Osteopetrosis, Autosomal Recessive 8 21 0.043
203
c FRN037 Frontal Encephalocele 20 0.043
204
SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 19 0.043
205
CHR224 Chromosome 1q Duplication 19 0.043
206
SPN113 Spinocerebellar Ataxia with Dysmorphism 18 0.043
207
ARM006 Armfield X-Linked Mental Retardation Syndrome 18 0.043
208
CHR483 Chromosome 3q13.31 Deletion Syndrome 17 0.043
209
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 17 0.043
210
NSD003 Nasodigitoacoustic Syndrome 17 0.043
211
CRN272 Craniometadiaphyseal Dysplasia 16 0.043
212
CHR252 Chromosome 5p Duplication 15 0.043
213
CRN266 Craniofacial Dyssynostosis with Short Stature 15 0.043
214
SHR023 Short Stature Syndrome, Brussels Type 15 0.043
215
MSC026 Muscular Dystrophy White Matter Spongiosis 15 0.043
216
P MNS011 Monosomy 9q22.3 14 0.043
217
ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 14 0.043
218
SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 14 0.043
219
c SVR048 Severe Canavan Disease 14 0.043
220
ANG062 Angioosteohypertrophic Syndrome 14 0.043
221
CHR587 Chromosome 16p11.2 Deletion Syndrome, 593-Kb Autism, Susceptibility to, 14a, Included 14 0.043
222
6Q1001 6q16 Deletion Syndrome 14 0.043
223
LTH005 Lethal Chondrodysplasia Moerman Type 13 0.043
224
DST055 Distal 22q11.2 Microduplication Syndrome 13 0.043
225
20P001 20p12.3 Microdeletion Syndrome 12 0.043
226
SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 12 0.043
227
LNR012 Linear Verrucous Nevus Syndrome 12 0.043
228
CRB071 Cerebral Gigantism Jaw Cysts 12 0.043
229
TRP011 Triopia 11 0.043
230
P RBN010 Robinow-Like Syndrome 11 0.043
231
THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 11 0.043
232
OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 10 0.043
233
ISL030 Isolated Cerebellar Hypoplasia/agenesis 10 0.043
234
EPM003 Epimetaphyseal Skeletal Dysplasia 10 0.043
235
P PLM037 Pulmonary Hypertension 79 0.030
236
P RTN024 Retinoblastoma 75 0.030
237
MRF001 Marfan Syndrome 73 0.030
238
c FNC027 Fanconi Anemia, Complementation Group a 73 0.030
239
MLT021 Multiple System Atrophy 71 0.030
240
P HRD008 Hereditary Hemorrhagic Telangiectasia 71 0.030
241
P NRB001 Neuroblastoma 69 0.030
242
PRP027 Peripheral Vascular Disease 69 0.030
243
c NRF018 Neurofibromatosis, Type 1 68 0.030
244
P DMN001 Diamond-Blackfan Anemia 68 0.030
245
P MYP004 Myopathy 67 0.030
246
P NJM001 Nijmegen Breakage Syndrome 66 0.030
247
OTT002 Otitis Media 66 0.030
248
ART005 Arteriovenous Malformation 65 0.030
249
P MSC005 Muscular Dystrophy 64 0.030
250
c BSL007 Basal Cell Carcinoma 64 0.030
251
P OST002 Osteoporosis 64 0.030
252
PTR006 Peters Anomaly 64 0.030
253
P DYS154 Dystonia 64 0.030
254
P PRD006 Prader-Willi Syndrome 63 0.030
255
c MCP003 Mucopolysaccharidosis Vii 63 0.030
256
PRT036 Peritonitis 62 0.030
257
P LYM025 Lymphedema 61 0.030
258
c MCP024 Mucopolysaccharidosis Type Vi 61 0.030
259
MNK001 Menkes Disease 61 0.030
260
HYP056 Hypoglycemia 61 0.030
261
P ANG001 Angelman Syndrome 61 0.030
262
c ACT075 Acute Myocardial Infarction 60 0.030
263
SHW002 Shwachman-Diamond Syndrome 60 0.030
264
P HMN010 Hemangioma 60 0.030
265
INC021 Incontinentia Pigmenti 60 0.030
266
c CNT035 Central Nervous System Disease 59 0.030
267
c JBR020 Joubert Syndrome 1 59 0.030
268
P PRT013 Portal Hypertension 59 0.030
269
P THR015 Thrombophilia 59 0.030
270
P HYP060 Hyperinsulinism 59 0.030
271
MCR013 Microphthalmia 59 0.030
272
P ANT006 Antiphospholipid Syndrome 58 0.030
273
c OST122 Osteogenesis Imperfecta, Type Iii 58 0.030
274
P LKD001 Leukodystrophy 58 0.030
275
P GLM045 Glioma 58 0.030
276
LPM004 Lipoma 58 0.030
277
c THR082 Thrombophilia Due to Activated Protein C Resistance 57 0.030
278
ABL002 Ablepharon-Macrostomia Syndrome 57 0.030
279
c MSC124 Muscular Dystrophy, Congenital 57 0.030
280
P THR003 Thoracic Aortic Aneurysm 57 0.030
281
P HYP040 Hypospadias 57 0.030
282
SNS001 Sensorineural Hearing Loss 57 0.030
283
P CHN012 Chondrosarcoma 57 0.030
284
SPT005 Spotted Fever 56 0.030
285
c THR092 Thrombophilia Due to Thrombin Defect 56 0.030
286
MSC077 Muscle Eye Brain Disease 56 0.030
287
c HYP615 Hyperparathyroidism, Familial Primary 55 0.030
288
P NPH005 Nephronophthisis 55 0.030
289
P THR005 Thrombotic Thrombocytopenic Purpura 55 0.030
290
CHR029 Choroid Plexus Papilloma 55 0.030
291
PLY056 Polyposis, Juvenile Intestinal 55 0.030
292
IMG001 Image Syndrome 55 0.030
293
LKN001 Leukoencephalopathy with Vanishing White Matter 54 0.030
294
P ECL001 Eclampsia 54 0.030
295
HYP080 Hypogonadism 54 0.030
296
P SLV001 Silver-Russell Syndrome 54 0.030
297
c BRD010 Bardet-Biedl Syndrome 1 54 0.030
298
c AFB002 Afibrinogenemia, Congenital 54 0.030
299
P VNS003 Venous Insufficiency 53 0.030
300
OST015 Osteochondrodysplasia 53 0.030
301
INT075 Intracranial Hypertension 53 0.030
302
INT007 Intermediate Coronary Syndrome 52 0.030
303
c PRX059 Peroxisome Biogenesis Disorder 1a 52 0.030
304
TLN003 Telangiectasis 52 0.030
305
P TRT010 Teratoma 52 0.030
306
P PTN002 Patent Ductus Arteriosus 52 0.030
307
OLG003 Oligohydramnios 52 0.030
308
LYS001 Loeys-Dietz Syndrome 52 0.030
309
P HYP024 Hypoparathyroidism 52 0.030
310
NRF007 Neurofibroma 52 0.030
311
ART001 Arterial Tortuosity Syndrome 52 0.030
312
P GLT023 Glutaric Acidemia Iic 52 0.030
313
P HYP237 Hypercalcemia, Infantile 51 0.030
314
DSS009 Disseminated Intravascular Coagulation 51 0.030
315
ANG054 Angina Pectoris 51 0.030
316
LRN003 Learning Disability 51 0.030
317
P SCH018 Schizencephaly 51 0.030
318
c CNG464 Congenital Myopathy 50 0.030
319
P CFF001 Coffin-Siris Syndrome 50 0.030
320
MLT092 Multicentric Carpotarsal Osteolysis Syndrome 50 0.030
321
P HML001 Hemolytic-Uremic Syndrome 50 0.030
322
IMP005 Impotence 50 0.030
323
P CLL015 Collagen Disease 49 0.030
324
MSS001 Masa Syndrome 49 0.030
325
MLL012 Miller Syndrome 49 0.030
326
DBF001 D-Bifunctional Protein Deficiency 49 0.030
327
P LFT003 Left Ventricular Noncompaction 49 0.030
328
HPT009 Hepatopulmonary Syndrome 48 0.030
329
P CNG046 Congenital Fiber-Type Disproportion 48 0.030
330
PGM001 Pigmented Villonodular Synovitis 48 0.030
331
P GLM040 Glioma Susceptibility 1 48 0.030
332
CRN017 Coronary Thrombosis 48 0.030
333
c RBN018 Robinow Syndrome, Autosomal Dominant 1 48 0.030
334
P OST028 Osteochondroma 48 0.030
335
c PSD066 Pseudohypoparathyroidism, Type Ib 47 0.030
336
PLY012 Polyhydramnios 47 0.030
337
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 47 0.030
338
P CRN012 Craniometaphyseal Dysplasia 47 0.030
339
SKL014 Skeletal Dysplasia 46 0.030
340
P NML001 Nemaline Myopathy 46 0.030
341
VTR016 Vater/vacterl Association 46 0.030
342
FBR008 Fibrillary Astrocytoma 46 0.030
343
PYL017 Pyle Disease 45 0.030
344
SYN005 Synostosis 45 0.030
345
P THR027 Thoracic Aortic Aneurysms and Aortic Dissections 45 0.030
346
VSC047 Vascular Malformation 45 0.030
347
MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 45 0.030
348
HDN002 Head Injury 45 0.030
349
DBT008 Diabetic Angiopathy 45 0.030
350
MCR037 Macroglossia 45 0.030
351
HPT046 Hepatic Veno-Occlusive Disease 45 0.030
352
P PLG001 Pelger-Huet Anomaly 45 0.030
353
CRB002 Cerebral Primitive Neuroectodermal Tumor 45 0.030
354
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 44 0.030
355
END020 Endocardial Fibroelastosis 44 0.030
356
P PSD015 Pseudohypoparathyroidism 44 0.030
357
P ARC016 Auriculocondylar Syndrome 1 44 0.030
358
AST006 Astigmatism 44 0.030
359
ESN011 Eisenmenger Syndrome 44 0.030
360
NRF008 Neurofibromatosis-Noonan Syndrome 44 0.030
361
P EXS004 Exostoses, Multiple, Type 1 44 0.030
362
ENC044 Enchondromatosis, Multiple, Ollier Type 44 0.030
363
RYN001 Raynaud Disease 44 0.030
364
EXS001 Exostosis 44 0.030
365
P SLL003 Salla Disease 43 0.030
366
c ATS330 Autosomal Recessive Limb-Girdle Muscular Dystrophy 43 0.030
367
ALB002 Albinism 43 0.030
368
CHR276 Chronic Active Epstein-Barr Virus Infection 43 0.030
369
c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 43 0.030
370
c HRD104 Hereditary Multiple Osteochondromas 43 0.030
371
VLL003 Villonodular Synovitis 43 0.030
372
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 43 0.030
373
P CRB088 Cerebral Atrophy 42 0.030
374
c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 42 0.030
375
PLX002 Plexiform Neurofibroma 42 0.030
376
c MCP012 Mucopolysaccharidosis Ih 42 0.030
377
c BRT034 Bartter Syndrome, Type 2 41 0.030
378
P DYS026 Dysfibrinogenemia 41 0.030
379
c FNC032 Fanconi Anemia, Complementation Group B 41 0.030
380
MLT075 Multifocal Motor Neuropathy 41 0.030
381
TRC040 Tracheoesophageal Fistula 41 0.030
382
CRT008 Carotid Artery Dissection 41 0.030
383
FML089 Familial Thoracic Aortic Aneurysm and Dissection 41 0.030
384
c PRG106 Progressive Muscular Dystrophy 41 0.030
385
ANP009 Anaplastic Oligodendroglioma 41 0.030
386
c CHR096 Chronic Pulmonary Heart Disease 40 0.030
387
MLT145 Multiple Enchondromatosis, Maffucci Type 40 0.030
388
CHN054 Chondrodysplasia, Blomstrand Type 40 0.030
389
GST029 Gastric Cardia Adenocarcinoma 40 0.030
390
TTH001 Tooth Ankylosis 39 0.030
391
CLD014 Cole Disease 39 0.030
392
HYL004 Hyaline Fibromatosis Syndrome 39 0.030
393
c PNT010 Pontocerebellar Hypoplasia Type 1 38 0.030
394
GRN039 Greenberg Skeletal Dysplasia 38 0.030
395
CLR005 Clear Cell Chondrosarcoma 38 0.030
396
P MRC003 Mercury Poisoning 38 0.030
397
FMR004 Fumarase Deficiency 38 0.030
398
BFD003 Bifid Uvula 38 0.030
399
P PNT019 Pontocerebellar Hypoplasia 37 0.030
400
ADL053 Adult Astrocytic Tumour 37 0.030
401
MDD003 Middle Cerebral Artery Infarction 37 0.030
402
c ADL008 Adult Oligodendroglioma 37 0.030
403
PLC004 Pilocytic Astrocytoma of Cerebellum 36 0.030
404
PLY024 Polymicrogyria 36 0.030
405
c LRS002 Larsen-Like Syndrome 36 0.030
406
TTR016 Tetra-Amelia Syndrome 36 0.030
407
c ATS082 Autosomal Dominant Robinow Syndrome 35 0.030
408
P CHN044 Chondrodysplasia Punctata Syndrome 35 0.030
409
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 35 0.030
410
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 35 0.030
411
ANG037 Angiomatosis 34 0.030
412
MYT022 Myotubular Myopathy, X-Linked 34 0.030
413
PTN006 Pten Hamartoma Tumor Syndrome 34 0.030
414
ENC010 Encephalocraniocutaneous Lipomatosis 34 0.030
415
HYD001 Hydranencephaly 34 0.030
416
c BRT038 Baraitser-Winter Syndrome 1 34 0.030
417
TRS007 Trismus-Pseudocamptodactyly Syndrome 33 0.030
418
SGT001 Sagittal Sinus Thrombosis 33 0.030
419
MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 33 0.030
420
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 33 0.030
421
c OST129 Osteopetrosis, Autosomal Recessive 2 33 0.030
422
c JBR004 Joubert Syndrome 2 33 0.030
423
INT016 Intraductal Papilloma 32 0.030
424
FTD001 Foot Drop 32 0.030
425
MRN001 Marantic Endocarditis 32 0.030
426
P TRN016 Transient Hypogammaglobulinemia 32 0.030
427
c NNN011 Noonan Syndrome 4 32 0.030
428
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 32 0.030
429
DYS048 Dysplasia Epiphysealis Hemimelica 32 0.030
430
47X001 47,xyy Syndrome 32 0.030
431
CHN003 Chondroblastic Osteosarcoma 31 0.030
432
PLL008 Pallister-Killian Syndrome 31 0.030
433
CPM001 Cap Myopathy 31 0.030
434
PRS016 Periosteal Chondrosarcoma 31 0.030
435
c CNG191 Congenital Disorder of Glycosylation, Type Iia 31 0.030
436
LJN003 Lujan-Fryns Syndrome 31 0.030
437
HYP021 Hypercementosis 31 0.030
438
P FML218 Familial Mitral Valve Prolapse 31 0.030
439
RVL002 Ruvalcaba Syndrome 31 0.030
440
c OST127 Osteogenesis Imperfecta, Type X 30 0.030
441
MLY006 Molybdenum Cofactor Deficiency a 30 0.030
442
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 30 0.030
443
OST069 Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 30 0.030
444
SPN012 Spindle Cell Hemangioma 30 0.030
445
c NNN013 Noonan Syndrome 6 30 0.030
446
PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 29 0.030
447
CNG032 Congenital Structural Myopathy 29 0.030
448
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 29 0.030
449
INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 29 0.030
450
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 29 0.030
451
c NNN021 Noonan Syndrome 8 29 0.030
452
MGL003 Megalocornea 28 0.030
453
FLS001 Fils Syndrome 28 0.030
454
c CRN221 Craniosynostosis 4 28 0.030
455
MYC018 Mycobacterium Malmoense 28 0.030
456
CLB026 Colobomatous Microphthalmia 28 0.030
457
c OST134 Osteopetrosis, Autosomal Recessive 6 28 0.030
458
JXT001 Juxtacortical Chondroma 28 0.030
459
KGM001 Kagami-Ogata Syndrome 28 0.030
460
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 28 0.030
461
P 2HY001 2-Hydroxyglutaric Aciduria 28 0.030
462
ENC014 Enchondroma 28 0.030
463
c STS007 Sotos Syndrome 2 27 0.030
464
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.030
465
FGS004 Fg Syndrome 4 27 0.030
466
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 27 0.030
467
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 27 0.030
468
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 26 0.030
469
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 26 0.030
470
IMM006 Immune System Organ Benign Neoplasm 26 0.030
471
OPT032 Optic Pathway Glioma 26 0.030
472
CBB005 Cobblestone Lissencephaly 26 0.030
473
c KNN007 Kenny-Caffey Syndrome, Type 2 25 0.030
474
c OST136 Osteopetrosis, Autosomal Recessive 7 25 0.030
475
MNT231 Mental Retardation, X-Linked Syndromic, Nascimento-Type 25 0.030
476
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 25 0.030
477
c BRT028 Brittle Cornea Syndrome 1 25 0.030
478
c CWD003 Cowden Syndrome 2 24 0.030
479
c HLP011 Holoprosencephaly-7 24 0.030
480
12Q002 12q14 Microdeletion Syndrome 24 0.030
481
ATR055 Atrial Septal Aneurysm 24 0.030
482
CRT037 Cortical Dysplasia-Focal Epilepsy Syndrome 24 0.030
483
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 24 0.030
484
c OST137 Osteopetrosis, Autosomal Recessive 4 24 0.030
485
RHM015 Rhombencephalosynapsis 24 0.030
486
SHR098 Short-Rib Thoracic Dysplasia 12 23 0.030
487
c FKR001 Fkrp-Related Muscle Diseases 23 0.030
488
P MSC002 Muscular Dystrophy-Dystroglycanopathy 23 0.030
489
DRR004 Diarrhea 3, Secretory Sodium, Congenital, Syndromic 23 0.030
490
c CWD005 Cowden Syndrome 4 23 0.030
491
SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 23 0.030
492
c DSB005 Desbuquois Dysplasia 2 23 0.030
493
THY007 Thymus Lipoma 23 0.030
494
CHR366 Chromosome 5p13 Duplication Syndrome 23 0.030
495
c OST120 Osteopetrosis, Autosomal Recessive 5 23 0.030
496
c CWD007 Cowden Syndrome 3 23 0.030
497
c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 23 0.030
498
c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 23 0.030
499
c LSS025 Lissencephaly 5 22 0.030
500
SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 22 0.030
501
c CRN110 Cranioectodermal Dysplasia 3 22 0.030
502
c MCR227 Microphthalmia, Syndromic 14 22 0.030
503
MLY005 Molybdenum Cofactor Deficiency B 22 0.030
504
c ADM007 Adams-Oliver Syndrome 2 22 0.030
505
INT033 Intracranial Chondrosarcoma 22 0.030
506
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 22 0.030
507
HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 22 0.030
508
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 21 0.030
509
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 21 0.030
510
c SVR040 Severe Congenital Nemaline Myopathy 21 0.030
511
CRN049 Craniolenticulosutural Dysplasia 21 0.030
512
SMM003 Summitt Syndrome 21 0.030
513
CHR383 Chromosome 1p32-P31 Deletion Syndrome 21 0.030
514
INT012 Interval Angle-Closure Glaucoma 20 0.030
515
c MCR312 Microphthalmia, Syndromic 10 20 0.030
516
VCT007 Vacterl Association, X-Linked 20 0.030
517
CHL107 Childhood-Onset Nemaline Myopathy 20 0.030
518
c INT274 Intermediate Congenital Nemaline Myopathy 20 0.030
519
CNG427 Congenital Muscular Dystrophy with Intellectual Disability 19 0.030
520
LVY002 Levy-Shanske Syndrome 19 0.030
521
c SCL042 Sclerosteosis 2 19 0.030
522
c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 19 0.030
523
ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 19 0.030
524
UNL013 Unilateral Absence of a Pulmonary Artery 18 0.030
525
HYP312 Hypophosphatemic Rickets and Hyperparathyroidism 18 0.030
526
CLC055 Cole-Carpenter Syndrome 2 18 0.030
527
SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 18 0.030
528
SHK001 Shaken Baby Syndrome 18 0.030
529
c ARC011 Auriculocondylar Syndrome 2 18 0.030
530
c LTH031 Lethal Congenital Contracture Syndrome 6 18 0.030
531
CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 18 0.030
532
TYP026 Typical Congenital Nemaline Myopathy 17 0.030
533
AMN014 Aminopterin Syndrome Sine Aminopterin 17 0.030
534
TTR019 Tetrasomy 5p 17 0.030
535
MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 17 0.030
536
DND013 Dandy-Walker Malformation with Postaxial Polydactyly 17 0.030
537
P VCT008 Vacterl with Hydrocephalus 17 0.030
538
CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 16 0.030
539
AND005 Androgen Insensitivity Syndrome, Mild 16 0.030
540
CRN087 Craniomicromelic Syndrome 15 0.030
541
PYK001 Pyknoachondrogenesis 15 0.030
542
HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 15 0.030
543
RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 15 0.030
544
CRB164 Cerebrooculonasal Syndrome 15 0.030
545
CLP002 Colpocephaly 15 0.030
546
6QT002 6q Terminal Deletion Syndrome 14 0.030
547
OST047 Osteopenia and Sparse Hair 14 0.030
548
BBB001 Bobble-Head Doll Syndrome 14 0.030
549
CRN224 Craniofaciofrontodigital Syndrome 14 0.030
550
MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 14 0.030
551
c CWD009 Cowden Syndrome 7 13 0.030
552
c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 13 0.030
553
7P2001 7p22.1 Microduplication Syndrome 13 0.030
554
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 12 0.030
555
1P2001 1p21.3 Microdeletion Syndrome 11 0.030
556
ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 11 0.030
557
PTR012 Paternal 14q32.2 Microdeletion Syndrome 11 0.030
558
GRW027 Growth Restriction, Severe, with Distinctive Facies 11 0.030
559
MTR055 Maternal 14q32.2 Microdeletion Syndrome 10 0.030
560
SNR014 Senior-Boichis Syndrome 10 0.030
561
1Q2002 1q21.1 Deletion 10 0.030
562
ISL104 Isolated Sedoheptulokinase Deficiency 10 0.030
563
SFR001 Sifrim-Hitz-Weiss Syndrome 9 0.030
564
MTR056 Maternal 14q32.2 Hypermethylation Syndrome 9 0.030
565
HYP277 Hypothalamic Hamartomas, Somatic 8 0.030
566
CHR360 Chromosome 4q32.1-Q32.2 Triplication Syndrome 8 0.030
567
PTR013 Paternal 14q32.2 Hypomethylation Syndrome 8 0.030
568
MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 7 0.030