Search results for macrocephaly

542 hits were found for macrocephaly

# Family MCID Name MIFTS Score
1
MCR096 Macrocephaly/autism Syndrome 30 4.981
2
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 42 4.458
3
MCR221 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 20 4.450
4
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 28 4.149
5
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 54 3.565
6
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 32 3.556
7
SZR019 Seizures-Scoliosis-Macrocephaly Syndrome 16 3.537
8
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 15 3.194
9
MMS001 Momo Syndrome 21 3.184
10
PRT093 Proteus Syndrome, Somatic 56 3.174
11
FRY007 Fryns Macrocephaly 12 3.174
12
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 19 2.803
13
MNT139 Mental Retardation, X-Linked Syndromic, Turner Type 23 2.763
14
MCR031 Macrocephaly, Benign Familial 9 2.740
15
MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 8 2.740
16
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 22 2.727
17
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 3 2.727
18
PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 14 2.277
19
CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 13 2.277
20
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3 2.265
21
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 27 2.220
22
c SYN080 Syndromic X-Linked Intellectual Disability 34 13 2.201
23
BGT001 Bagatelle Cassidy Syndrome 4 2.201
24
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 13 1.633
25
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 13 1.633
26
DND008 Dandy-Walker Malformation Associated with Macrocephaly, Facial Anomalies, Developmental Delay, and Brain Stem Dysgenesis 4 1.633
27
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 22 1.618
28
TNR001 Tenorio Syndrome 21 1.618
29
c MNT216 Mental Retardation, Autosomal Recessive 41 19 1.618
30
MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 5 1.618
31
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4 1.618
32
MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 2 1.618
33
OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 9 1.602
34
CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 5 1.602
35
MCR313 Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome 5 1.602
36
XLN213 X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome 3 1.602
37
c MNT239 Mental Retardation, Autosomal Dominant 35 18 1.582
38
SMT020 Smith-Kingsmore Syndrome 18 1.582
39
KNS006 Kniest-Like Dysplasia, Lethal 14 1.582
40
CLR029 Clark-Baraitser Syndrome 11 1.582
41
ZRS001 Zori Stalker Williams Syndrome 5 1.582
42
c FCS008 Fucosidosis Type 1 10 1.556
43
CTS011 Cutis Marmorata Telangiectatica Congenita 30 0.161
44
P INT063 Intellectual Disability 49 0.124
45
P OBS005 Obesity 92 0.088
46
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.088
47
MGL013 Megalencephaly 52 0.082
48
GRG001 Greig Cephalopolysyndactyly Syndrome 51 0.082
49
P ATS007 Autism Spectrum Disorder 65 0.076
50
P THN009 Thanatophoric Dysplasia, Type I 63 0.076
51
MTC007 Mitochondrial Complex I Deficiency 61 0.076
52
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 57 0.076
53
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 51 0.076
54
P HYP265 Hypotonia 38 0.076
55
OPS002 Opsismodysplasia 34 0.076
56
P HYD006 Hydrocephalus 66 0.069
57
P CWD001 Cowden Disease 64 0.069
58
MNK003 Muenke Syndrome 60 0.069
59
c CWD006 Cowden Syndrome 1 57 0.069
60
ACR008 Acrocallosal Syndrome 52 0.069
61
P STS008 Sotos Syndrome 1 51 0.069
62
P MLT007 Multiple Epiphyseal Dysplasia 50 0.069
63
OST022 Osteopathia Striata with Cranial Sclerosis 40 0.069
64
HYP622 Hypertrichotic Osteochondrodysplasia 37 0.069
65
P EPL164 Epilepsy 66 0.062
66
P ALX003 Alexander Disease 63 0.062
67
P CRD013 Cardiofaciocutaneous Syndrome 63 0.062
68
P SHR029 Short Syndrome 58 0.062
69
P WVR001 Weaver Syndrome 56 0.062
70
P SYN001 Syndactyly 53 0.062
71
HYP691 Hypomelanosis of Ito 42 0.062
72
c L2H001 L-2-Hydroxyglutaric Aciduria 42 0.062
73
CRB009 Cerebritis 39 0.062
74
PRM056 Primrose Syndrome 32 0.062
75
WTS001 Watson Syndrome 28 0.062
76
CHR225 Chromosome 1q21.1 Duplication Syndrome 20 0.062
77
EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 19 0.062
78
P FRG001 Fragile X Syndrome 69 0.054
79
CST001 Costello Syndrome 68 0.054
80
P HLP001 Holoprosencephaly 63 0.054
81
P OST001 Osteopetrosis 63 0.054
82
c MCP009 Mucopolysaccharidosis Ii 62 0.054
83
P MCR010 Microcephaly 58 0.054
84
HYP042 Hypochondroplasia 57 0.054
85
CMP005 Campomelic Dysplasia 55 0.054
86
P SCL018 Scoliosis 55 0.054
87
c MNN025 Mannosidosis, Alpha-, Types I and Ii 55 0.054
88
P CNV004 Canavan Disease 54 0.054
89
LGS001 Legius Syndrome 53 0.054
90
PHL006 Phelan-Mcdermid Syndrome 51 0.054
91
PRP016 Paraplegia 49 0.054
92
JCB001 Jacobsen Syndrome 48 0.054
93
GLT021 Glutaricaciduria, Type I 46 0.054
94
DND001 Dandy-Walker Syndrome 44 0.054
95
PGT008 Paget Disease of Bone 5, Juvenile-Onset 42 0.054
96
P CRN013 Craniodiaphyseal Dysplasia 42 0.054
97
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 42 0.054
98
HMH002 Hemihypertrophy 41 0.054
99
AYM001 Ayme-Gripp Syndrome 41 0.054
100
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 40 0.054
101
TRP014 Triploidy 40 0.054
102
c RBN009 Robinow Syndrome, Autosomal Recessive 37 0.054
103
PTN006 Pten Hamartoma Tumor Syndrome 37 0.054
104
DNN002 Donnai-Barrow Syndrome 35 0.054
105
PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 34 0.054
106
c OST126 Osteopetrosis, Autosomal Recessive 1 34 0.054
107
ACR002 Acrocapitofemoral Dysplasia 33 0.054
108
SCH030 Schneckenbecken Dysplasia 32 0.054
109
WSM002 Waisman Syndrome 32 0.054
110
OPT054 Opitz-Kaveggia Syndrome 32 0.054
111
NNN014 Noonan-Like Syndrome with Loose Anagen Hair 31 0.054
112
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 31 0.054
113
c CNG187 Congenital Disorder of Glycosylation, Type Iid 26 0.054
114
CHR595 Chromosome 10q23 Deletion Syndrome Juvenile Polyposis of Infancy, Included 26 0.054
115
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 26 0.054
116
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 24 0.054
117
c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23 0.054
118
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 22 0.054
119
CHR582 Chromosome 3q29 Duplication Syndrome 21 0.054
120
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 20 0.054
121
FBR087 Fibromatosis, Gingival, with Distinctive Facies 16 0.054
122
SHR023 Short Stature Syndrome, Brussels Type 15 0.054
123
RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 15 0.054
124
ATK002 Atkin-Flaitz Syndrome 15 0.054
125
TTR001 Tetralogy of Fallot 71 0.044
126
P TYS001 Tay-Sachs Disease 71 0.044
127
P NRF002 Neurofibromatosis 71 0.044
128
P OST005 Osteogenesis Imperfecta 69 0.044
129
ACH004 Achondroplasia 66 0.044
130
BSL036 Basal Cell Nevus Syndrome 65 0.044
131
c MCP037 Mucopolysaccharidosis is 64 0.044
132
P CLD001 Cleidocranial Dysplasia 62 0.044
133
P PRD006 Prader-Willi Syndrome 62 0.044
134
MCK007 Muckle-Wells Syndrome 61 0.044
135
MCR013 Microphthalmia 60 0.044
136
c MCP004 Mucopolysaccharidosis Iv 60 0.044
137
P ENC018 Encephalopathy 59 0.044
138
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 58 0.044
139
P CTS001 Cutis Laxa 58 0.044
140
ALP008 Alopecia 57 0.044
141
SNS001 Sensorineural Hearing Loss 57 0.044
142
P MYP006 Myopia 56 0.044
143
P PLY006 Polydactyly 56 0.044
144
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.044
145
CNC002 Cinca Syndrome 55 0.044
146
P TRM003 Tremor 54 0.044
147
CCH002 Coach Syndrome 54 0.044
148
KLP010 Klippel-Trenaunay-Weber Syndrome 54 0.044
149
MLT135 Multiple Sulfatase Deficiency 53 0.044
150
DST005 Diastrophic Dysplasia 53 0.044
151
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 51 0.044
152
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 50 0.044
153
LRN003 Learning Disability 49 0.044
154
c THN010 Thanatophoric Dysplasia, Type Ii 49 0.044
155
P PRN026 Porencephaly 48 0.044
156
NNT017 Neonatal Adrenoleukodystrophy 47 0.044
157
ALB002 Albinism 46 0.044
158
HMM003 Hemimegalencephaly 45 0.044
159
PLS030 Plasminogen Deficiency, Type I 44 0.044
160
MLB001 Mulibrey Nanism 43 0.044
161
c ACH033 Achondrogenesis, Type Ia 43 0.044
162
BRJ001 Borjeson-Forssman-Lehmann Syndrome 43 0.044
163
c ACH035 Achondrogenesis Ib 43 0.044
164
P RTS001 Ritscher-Schinzel Syndrome 42 0.044
165
SPS057 Spasticity 42 0.044
166
c BRC082 Brachydactyly, Type E 42 0.044
167
c MNT230 Mental Retardation, X-Linked Syndromic 5 41 0.044
168
ARC002 Arachnoiditis 41 0.044
169
c OST131 Osteopetrosis, Autosomal Dominant 2 41 0.044
170
ARC007 Arachnoid Cysts 39 0.044
171
P ACH011 Achondrogenesis 39 0.044
172
RVL002 Ruvalcaba Syndrome 39 0.044
173
BDY001 Body Dysmorphic Disorder 39 0.044
174
c SPN330 Spondylocostal Dysostosis 5 38 0.044
175
ALR002 Al-Raqad Syndrome 36 0.044
176
P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 35 0.044
177
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 35 0.044
178
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.044
179
CHR594 Chromosome 3q29 Deletion Syndrome 35 0.044
180
c MNT109 Mental Retardation, X-Linked, Syndromic 15 35 0.044
181
c ATS282 Autosomal Recessive Malignant Osteopetrosis 35 0.044
182
PSD008 Pseudopapilledema 34 0.044
183
47X001 47,xyy Syndrome 33 0.044
184
GGN002 Gigantism 32 0.044
185
MPP001 Mpph Syndrome 32 0.044
186
VSL002 Visual Epilepsy 31 0.044
187
DSM002 Desmosterolosis 31 0.044
188
CHR355 Chromosome 15q13.3 Microdeletion Syndrome 31 0.044
189
CSN001 Cousin Syndrome 30 0.044
190
SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 29 0.044
191
c RBN017 Robinow Syndrome, Autosomal Dominant 2 28 0.044
192
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 27 0.044
193
c CWD008 Cowden Syndrome 6 27 0.044
194
FNT003 Fountain Syndrome 26 0.044
195
FGS002 Fg Syndrome 2 26 0.044
196
TMT003 Temtamy Syndrome 25 0.044
197
LBN004 Liebenberg Syndrome 25 0.044
198
ISL062 Isolated Plagiocephaly 24 0.044
199
RHM015 Rhombencephalosynapsis 24 0.044
200
c CWD004 Cowden Syndrome 5 24 0.044
201
MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 24 0.044
202
c SPL024 Split-Hand/foot Malformation 3 23 0.044
203
CHR590 Chromosome 15q11-Q13 Duplication Syndrome 23 0.044
204
c OST106 Osteopetrosis, Autosomal Recessive 8 23 0.044
205
7Q1002 7q11.23 Duplication Syndrome 23 0.044
206
DYS045 Dysosteosclerosis 22 0.044
207
MGL033 Megalocornea-Mental Retardation Syndrome 20 0.044
208
c FRN037 Frontal Encephalocele 20 0.044
209
SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 19 0.044
210
CHR224 Chromosome 1q Duplication 19 0.044
211
SPN113 Spinocerebellar Ataxia with Dysmorphism 18 0.044
212
TTR019 Tetrasomy 5p 18 0.044
213
CHR483 Chromosome 3q13.31 Deletion Syndrome 18 0.044
214
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 17 0.044
215
NSD003 Nasodigitoacoustic Syndrome 17 0.044
216
ARM006 Armfield X-Linked Mental Retardation Syndrome 17 0.044
217
CHR252 Chromosome 5p Duplication 16 0.044
218
RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 16 0.044
219
6QT002 6q Terminal Deletion Syndrome 16 0.044
220
CRN272 Craniometadiaphyseal Dysplasia 16 0.044
221
MSC026 Muscular Dystrophy White Matter Spongiosis 15 0.044
222
P MNS011 Monosomy 9q22.3 15 0.044
223
SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 14 0.044
224
7P2001 7p22.1 Microduplication Syndrome 14 0.044
225
ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 14 0.044
226
c SVR048 Severe Canavan Disease 14 0.044
227
ANG062 Angioosteohypertrophic Syndrome 14 0.044
228
c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 14 0.044
229
6Q1001 6q16 Deletion Syndrome 14 0.044
230
LTH005 Lethal Chondrodysplasia Moerman Type 13 0.044
231
CHR587 Chromosome 16p11.2 Deletion Syndrome, 593-Kb Autism, Susceptibility to, 14a, Included 13 0.044
232
SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 13 0.044
233
LNR012 Linear Verrucous Nevus Syndrome 12 0.044
234
1P2001 1p21.3 Microdeletion Syndrome 12 0.044
235
CRB071 Cerebral Gigantism Jaw Cysts 12 0.044
236
DST055 Distal 22q11.2 Microduplication Syndrome 12 0.044
237
20P001 20p12.3 Microdeletion Syndrome 12 0.044
238
TRP011 Triopia 11 0.044
239
ISL104 Isolated Sedoheptulokinase Deficiency 11 0.044
240
THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 11 0.044
241
c RBN010 Robinow-Like Syndrome 11 0.044
242
OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 10 0.044
243
ISL030 Isolated Cerebellar Hypoplasia/agenesis 10 0.044
244
EPM003 Epimetaphyseal Skeletal Dysplasia 10 0.044
245
MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 8 0.044
246
DCH001 Duchenne Muscular Dystrophy 79 0.031
247
c DLT002 Dilated Cardiomyopathy 76 0.031
248
P RTN024 Retinoblastoma 74 0.031
249
MLT021 Multiple System Atrophy 70 0.031
250
P LGH007 Leigh Syndrome 70 0.031
251
P NRB001 Neuroblastoma 70 0.031
252
BCK001 Becker Muscular Dystrophy 69 0.031
253
P DMN001 Diamond-Blackfan Anemia 69 0.031
254
c NRF018 Neurofibromatosis, Type 1 67 0.031
255
P NJM001 Nijmegen Breakage Syndrome 67 0.031
256
OTT002 Otitis Media 66 0.031
257
P CSH001 Cushing's Syndrome 65 0.031
258
P DYS154 Dystonia 65 0.031
259
c BSL007 Basal Cell Carcinoma 65 0.031
260
PTR006 Peters Anomaly 65 0.031
261
P OST002 Osteoporosis 64 0.031
262
PRT036 Peritonitis 63 0.031
263
c MCP003 Mucopolysaccharidosis Vii 62 0.031
264
HYP056 Hypoglycemia 61 0.031
265
P LYM025 Lymphedema 61 0.031
266
P ANG001 Angelman Syndrome 61 0.031
267
SHW002 Shwachman-Diamond Syndrome 61 0.031
268
MNK001 Menkes Disease 60 0.031
269
c JBR020 Joubert Syndrome 1 60 0.031
270
P FCL005 Focal Segmental Glomerulosclerosis 60 0.031
271
P GLM045 Glioma 60 0.031
272
HYP020 Hyperprolactinemia 60 0.031
273
LPM004 Lipoma 60 0.031
274
c MCP024 Mucopolysaccharidosis Type Vi 60 0.031
275
c CNT035 Central Nervous System Disease 60 0.031
276
P HMN010 Hemangioma 59 0.031
277
c OST122 Osteogenesis Imperfecta, Type Iii 59 0.031
278
INC021 Incontinentia Pigmenti 59 0.031
279
P LKD001 Leukodystrophy 59 0.031
280
P HYP060 Hyperinsulinism 58 0.031
281
P HYP040 Hypospadias 57 0.031
282
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 57 0.031
283
THR024 Thrombosis 57 0.031
284
LGG001 Legg-Calve-Perthes Disease 57 0.031
285
ANR040 Aneurysm 57 0.031
286
NRM005 Neuromuscular Disease 56 0.031
287
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 56 0.031
288
PTT006 Pituitary Adenoma 56 0.031
289
ZLL001 Zellweger Syndrome 56 0.031
290
c HYP615 Hyperparathyroidism, Familial Primary 56 0.031
291
LKN001 Leukoencephalopathy with Vanishing White Matter 56 0.031
292
c MSC124 Muscular Dystrophy, Congenital 55 0.031
293
P FNC043 Fanconi Anemia, Complementation Group E 55 0.031
294
CHR029 Choroid Plexus Papilloma 55 0.031
295
PLL001 Pallister-Hall Syndrome 55 0.031
296
P HYP083 Hypopituitarism 54 0.031
297
PTT046 Pituitary Hormone Deficiency, Combined, 2 54 0.031
298
P MYP101 Myopathy, Centronuclear 54 0.031
299
c BRD010 Bardet-Biedl Syndrome 1 54 0.031
300
PLY056 Polyposis, Juvenile Intestinal 54 0.031
301
PTT049 Pituitary Adenoma, Acth-Secreting 53 0.031
302
HYP080 Hypogonadism 53 0.031
303
P HYP024 Hypoparathyroidism 53 0.031
304
OLG003 Oligohydramnios 53 0.031
305
NRF007 Neurofibroma 53 0.031
306
PTT048 Pituitary Adenoma, Prolactin-Secreting 53 0.031
307
OST015 Osteochondrodysplasia 52 0.031
308
P SCH018 Schizencephaly 52 0.031
309
P TRT010 Teratoma 52 0.031
310
ATY005 Atypical Teratoid Rhabdoid Tumor 52 0.031
311
P GLT023 Glutaric Acidemia Iic 52 0.031
312
MSS001 Masa Syndrome 52 0.031
313
MTC097 Mitochondrial Complex Iv Deficiency 51 0.031
314
P CFF001 Coffin-Siris Syndrome 51 0.031
315
P SMP003 Simpson-Golabi-Behmel Syndrome 51 0.031
316
P LFT003 Left Ventricular Noncompaction 50 0.031
317
c CRB103 Cerebral Cavernous Malformations-1 50 0.031
318
RTN023 Retinitis 50 0.031
319
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 50 0.031
320
IMG001 Image Syndrome 50 0.031
321
DBF001 D-Bifunctional Protein Deficiency 50 0.031
322
PRL032 Perlman Syndrome 50 0.031
323
INT075 Intracranial Hypertension 50 0.031
324
HPT074 Hepatic Adenoma, Somatic 50 0.031
325
PRT029 Parathyroid Adenoma 48 0.031
326
PRT030 Parathyroid Gland Disease 47 0.031
327
PTT009 Pituitary Gland Disease 47 0.031
328
PLY012 Polyhydramnios 47 0.031
329
HYP025 Hyperphosphatemia 47 0.031
330
SKL014 Skeletal Dysplasia 46 0.031
331
SYN005 Synostosis 46 0.031
332
VTR016 Vater/vacterl Association 46 0.031
333
c BRT034 Bartter Syndrome, Type 2 46 0.031
334
P CRN012 Craniometaphyseal Dysplasia 46 0.031
335
P PLG001 Pelger-Huet Anomaly 45 0.031
336
PTT037 Pituitary Tumors 45 0.031
337
VSC047 Vascular Malformation 45 0.031
338
MCR037 Macroglossia 45 0.031
339
AST006 Astigmatism 45 0.031
340
ADR021 Adrenocorticotropic Hormone Deficiency 45 0.031
341
SKL017 Skeletal Dysplasias 45 0.031
342
TRC040 Tracheoesophageal Fistula 45 0.031
343
END020 Endocardial Fibroelastosis 44 0.031
344
P D2H001 D-2-Hydroxyglutaric Aciduria 44 0.031
345
NRF008 Neurofibromatosis-Noonan Syndrome 44 0.031
346
DYS032 Dystrophinopathies 44 0.031
347
HYP085 Hypothalamic Disease 44 0.031
348
PRS115 Prosthetic Joint Infection 44 0.031
349
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 43 0.031
350
P SLL003 Salla Disease 43 0.031
351
c FNC032 Fanconi Anemia, Complementation Group B 43 0.031
352
ACT087 Acth Deficiency 43 0.031
353
P CRB088 Cerebral Atrophy 42 0.031
354
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 42 0.031
355
P MYF003 Myofibrillar Myopathy 42 0.031
356
CRB002 Cerebral Primitive Neuroectodermal Tumor 41 0.031
357
PLX002 Plexiform Neurofibroma 41 0.031
358
c MCP012 Mucopolysaccharidosis Ih 41 0.031
359
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 41 0.031
360
FNC007 Functioning Pituitary Adenoma 41 0.031
361
MLR002 Miliary Tuberculosis 41 0.031
362
c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 41 0.031
363
DST004 Distal Muscular Dystrophy 40 0.031
364
c RBN018 Robinow Syndrome, Autosomal Dominant 1 40 0.031
365
CHR034 Chromophobe Adenoma 40 0.031
366
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 40 0.031
367
EMP001 Empty Sella Syndrome 40 0.031
368
P ARC016 Auriculocondylar Syndrome 1 40 0.031
369
ATS008 Autosomal Dominant Disease 39 0.031
370
c PRX059 Peroxisome Biogenesis Disorder 1a 39 0.031
371
CRP010 Corpus Callosum Agenesis 38 0.031
372
c PNT010 Pontocerebellar Hypoplasia Type 1 38 0.031
373
HYP070 Hyperpituitarism 38 0.031
374
FMR004 Fumarase Deficiency 38 0.031
375
P PNT019 Pontocerebellar Hypoplasia 38 0.031
376
TMP012 Temple Syndrome 38 0.031
377
HYP189 Hypoadrenalism 37 0.031
378
HYP343 Hypothryoidism, Congenital, Nongoitrous 4 37 0.031
379
ANG037 Angiomatosis 37 0.031
380
c LRS002 Larsen-Like Syndrome 37 0.031
381
CLD014 Cole Disease 37 0.031
382
TTR016 Tetra-Amelia Syndrome 36 0.031
383
P CHN044 Chondrodysplasia Punctata Syndrome 36 0.031
384
MTC005 Mitochondrial Metabolism Disease 36 0.031
385
c FML311 Familial Colorectal Cancer Type X 36 0.031
386
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 35 0.031
387
c BRT038 Baraitser-Winter Syndrome 1 35 0.031
388
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 35 0.031
389
PLY024 Polymicrogyria 35 0.031
390
HYD001 Hydranencephaly 35 0.031
391
MYT022 Myotubular Myopathy, X-Linked 35 0.031
392
ATR013 Atrichia with Papular Lesions 35 0.031
393
GRN039 Greenberg Skeletal Dysplasia 35 0.031
394
SGT001 Sagittal Sinus Thrombosis 35 0.031
395
P HYP599 Hypoparathyroidism, Familial Isolated 34 0.031
396
MSC004 Muscle Tissue Disease 34 0.031
397
c BRN108 Branchiootic Syndrome 1 34 0.031
398
CNC014 Cancer-Associated Retinopathy 34 0.031
399
c OST129 Osteopetrosis, Autosomal Recessive 2 34 0.031
400
LGN005 Ligneous Conjunctivitis 34 0.031
401
c SCL042 Sclerosteosis 2 34 0.031
402
c MYS064 Myasthenic Syndrome, Congenital, 16 33 0.031
403
SRC016 Sarcoglycanopathies 33 0.031
404
c JBR004 Joubert Syndrome 2 33 0.031
405
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 32 0.031
406
CLC003 Cloacogenic Carcinoma 32 0.031
407
LVD002 Livedoid Vasculopathy 32 0.031
408
ORB012 Orbital Cancer 32 0.031
409
BRD005 Borderline Leprosy 32 0.031
410
TRS007 Trismus-Pseudocamptodactyly Syndrome 32 0.031
411
c NNN011 Noonan Syndrome 4 32 0.031
412
c CNG191 Congenital Disorder of Glycosylation, Type Iia 31 0.031
413
P ATM076 Autoimmune Retinopathy 31 0.031
414
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 31 0.031
415
c HLP011 Holoprosencephaly-7 31 0.031
416
FML304 Familial Isolated Dilated Cardiomyopathy 31 0.031
417
PLL008 Pallister-Killian Syndrome 31 0.031
418
LYM043 Lymphocytic Hypophysitis 31 0.031
419
OST069 Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 31 0.031
420
MTC014 Mitochondrial Dna Deletion Syndromes 30 0.031
421
MLY006 Molybdenum Cofactor Deficiency a 30 0.031
422
c OST127 Osteogenesis Imperfecta, Type X 30 0.031
423
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 30 0.031
424
c ACT053 Acute Thyroiditis 30 0.031
425
LJN003 Lujan-Fryns Syndrome 30 0.031
426
c NNN013 Noonan Syndrome 6 30 0.031
427
PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 30 0.031
428
c CRN221 Craniosynostosis 4 30 0.031
429
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 29 0.031
430
c STS007 Sotos Syndrome 2 29 0.031
431
CMD001 Comedo Carcinoma 29 0.031
432
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 29 0.031
433
CLB026 Colobomatous Microphthalmia 29 0.031
434
c NNN021 Noonan Syndrome 8 29 0.031
435
ADN064 Adenohypophysitis 28 0.031
436
CHR543 Chromosome 2q37 Deletion Syndrome 28 0.031
437
MGL003 Megalocornea 28 0.031
438
ERY002 Erythema Infectiosum 28 0.031
439
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 28 0.031
440
c OST134 Osteopetrosis, Autosomal Recessive 6 28 0.031
441
FLS001 Fils Syndrome 28 0.031
442
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 28 0.031
443
RHB022 Rhabdoid Tumors, Somatic 27 0.031
444
c EHL043 Ehlers-Danlos Syndrome, Progeroid Type, 1 27 0.031
445
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.031
446
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 27 0.031
447
c VRL008 Viral Exanthem 26 0.031
448
c OST136 Osteopetrosis, Autosomal Recessive 7 26 0.031
449
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 26 0.031
450
HYP666 Hypoparathyroidism-Deafness-Renal Disease Syndrome 26 0.031
451
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 26 0.031
452
BRC002 Brachial Plexus Neuritis 26 0.031
453
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 26 0.031
454
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 26 0.031
455
c KNN007 Kenny-Caffey Syndrome, Type 2 25 0.031
456
HNM002 Hinman Syndrome 25 0.031
457
FGS004 Fg Syndrome 4 25 0.031
458
MTC015 Mitochondrial Dna-Associated Leigh Syndrome and Narp 25 0.031
459
c CWD003 Cowden Syndrome 2 25 0.031
460
TTR012 Tetrasomy 9p 25 0.031
461
MNT231 Mental Retardation, X-Linked Syndromic, Nascimento-Type 25 0.031
462
OPT032 Optic Pathway Glioma 25 0.031
463
LGH012 Leigh Syndrome with Leukodystrophy 25 0.031
464
SHR098 Short-Rib Thoracic Dysplasia 12 25 0.031
465
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 24 0.031
466
c OST137 Osteopetrosis, Autosomal Recessive 4 24 0.031
467
ATR055 Atrial Septal Aneurysm 24 0.031
468
CRT037 Cortical Dysplasia-Focal Epilepsy Syndrome 24 0.031
469
c BRT028 Brittle Cornea Syndrome 1 24 0.031
470
c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 24 0.031
471
c OST120 Osteopetrosis, Autosomal Recessive 5 24 0.031
472
CHR367 Chromosome 7q11.23 Duplication Syndrome 24 0.031
473
12Q002 12q14 Microdeletion Syndrome 23 0.031
474
c CWD005 Cowden Syndrome 4 23 0.031
475
DRR004 Diarrhea 3, Secretory Sodium, Congenital, Syndromic 23 0.031
476
SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 23 0.031
477
c CWD007 Cowden Syndrome 3 23 0.031
478
HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 23 0.031
479
c DSB005 Desbuquois Dysplasia 2 23 0.031
480
c LSS025 Lissencephaly 5 23 0.031
481
c CRN110 Cranioectodermal Dysplasia 3 23 0.031
482
c MCR227 Microphthalmia, Syndromic 14 23 0.031
483
CHR366 Chromosome 5p13 Duplication Syndrome 23 0.031
484
OCL039 Oculoectodermal Syndrome 23 0.031
485
c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 22 0.031
486
MLY005 Molybdenum Cofactor Deficiency B 22 0.031
487
SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 22 0.031
488
c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 22 0.031
489
P PRT063 Proteus-Like Syndrome 22 0.031
490
PRG123 Progeroid Syndrome, Neonatal 22 0.031
491
TTT001 Tatton-Brown-Rahman Syndrome 22 0.031
492
c ADM007 Adams-Oliver Syndrome 2 22 0.031
493
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 22 0.031
494
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 22 0.031
495
CHR383 Chromosome 1p32-P31 Deletion Syndrome 22 0.031
496
LJN002 Lujan Syndrome 21 0.031
497
CRN049 Craniolenticulosutural Dysplasia 21 0.031
498
c LGH008 Leigh-Like Syndrome 21 0.031
499
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 21 0.031
500
MTC112 Mitochondrial Dna-Associated Leigh Syndrome 20 0.031
501
LVY002 Levy-Shanske Syndrome 20 0.031
502
VCT007 Vacterl Association, X-Linked 20 0.031
503
c LTH031 Lethal Congenital Contracture Syndrome 6 19 0.031
504
SHK001 Shaken Baby Syndrome 19 0.031
505
CYT006 Cytoplasmic Body Myopathy 19 0.031
506
SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 19 0.031
507
CRD009 Cardioencephalomyopathy 19 0.031
508
ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 19 0.031
509
c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 18 0.031
510
HYP312 Hypophosphatemic Rickets and Hyperparathyroidism 18 0.031
511
NCL007 Nuclear Gene-Encoded Leigh Syndrome 18 0.031
512
c ARC011 Auriculocondylar Syndrome 2 18 0.031
513
CLC055 Cole-Carpenter Syndrome 2 18 0.031
514
c RTS002 Ritscher-Schinzel Syndrome 2 18 0.031
515
CHR190 Chromosome 12p Duplication 18 0.031
516
SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 17 0.031
517
AMN014 Aminopterin Syndrome Sine Aminopterin 17 0.031
518
DND013 Dandy-Walker Malformation with Postaxial Polydactyly 17 0.031
519
AND005 Androgen Insensitivity Syndrome, Mild 16 0.031
520
ACR044 Acroosteolysis Dominant Type 16 0.031
521
CLP002 Colpocephaly 15 0.031
522
P BMP001 Bmpr1a-Related Juvenile Polyposis 15 0.031
523
2Q3002 2q37 Microdeletion Syndrome 15 0.031
524
BBB001 Bobble-Head Doll Syndrome 15 0.031
525
CRN266 Craniofacial Dyssynostosis with Short Stature 15 0.031
526
CRB164 Cerebrooculonasal Syndrome 14 0.031
527
MGL027 Megalocornea-Intellectual Disability Syndrome 14 0.031
528
CRN224 Craniofaciofrontodigital Syndrome 14 0.031
529
MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 14 0.031
530
EXT061 Extracardiac Rhabdomyoma 14 0.031
531
CRN083 Craniofacial Dyssynostosis 13 0.031
532
c CWD009 Cowden Syndrome 7 13 0.031
533
CHR490 Chromosome 10q23 Deletion Syndrome 13 0.031
534
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 12 0.031
535
ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 11 0.031
536
1Q2002 1q21.1 Deletion 11 0.031
537
GRW027 Growth Restriction, Severe, with Distinctive Facies 11 0.031
538
P VCT008 Vacterl with Hydrocephalus 10 0.031
539
HYP277 Hypothalamic Hamartomas, Somatic 9 0.031
540
SFR001 Sifrim-Hitz-Weiss Syndrome 9 0.031
541
CHR360 Chromosome 4q32.1-Q32.2 Triplication Syndrome 8 0.031
542
NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 8 0.031
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