Search results for macrocephaly

684 hits were found for macrocephaly

# Family MCID Name MIFTS Score
1
MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 48 5.509
2
MCR353 Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome 21 4.756
3
MCR096 Macrocephaly/autism Syndrome 25 4.510
4
ALG027 Al-Gazali-Bakalinova Syndrome 31 4.212
5
MCS006 Macs Syndrome 45 4.161
6
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 50 3.908
7
MMS001 Momo Syndrome 32 3.585
8
P PRT008 Proteus Syndrome 67 3.569
9
SZR018 Seizures, Scoliosis, and Macrocephaly Syndrome 26 3.569
10
FRY007 Fryns Macrocephaly 18 3.569
11
MCR031 Macrocephaly, Benign Familial 16 3.194
12
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 31 2.844
13
MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 22 2.788
14
SMT020 Smith-Kingsmore Syndrome 29 2.768
15
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 6 2.746
16
VCT004 Vacterl Association with Hydrocephalus 21 2.717
17
CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 22 2.307
18
PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 18 2.298
19
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 17 2.298
20
TNR001 Tenorio Syndrome 21 2.277
21
MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 21 2.265
22
MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 8 2.265
23
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 32 2.251
24
c MNT296 Mental Retardation, X-Linked, Syndromic 34 25 2.251
25
BGT001 Bagatelle Cassidy Syndrome 5 2.219
26
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 24 1.638
27
c MNT216 Mental Retardation, Autosomal Recessive 41 21 1.638
28
KNS006 Kniest-Like Dysplasia, Lethal 20 1.638
29
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 18 1.638
30
MCR347 Macrocephaly and Epileptic Encephalopathy 11 1.638
31
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 21 1.625
32
MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 3 1.625
33
CLR029 Clark-Baraitser Syndrome 24 1.610
34
c MNT239 Mental Retardation, Autosomal Dominant 35 20 1.610
35
OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 13 1.610
36
CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 6 1.610
37
XLN213 X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome 3 1.610
38
SYN090 Syndromic X-Linked Intellectual Disability Turner Type 10 1.592
39
ZRS001 Zori Stalker Williams Syndrome 6 1.592
40
c FCS008 Fucosidosis Type 1 8 1.569
41
CTS011 Cutis Marmorata Telangiectatica Congenita 36 0.145
42
P ATS364 Autism 70 0.122
43
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.112
44
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.084
45
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.084
46
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.084
47
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.084
48
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.084
49
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.084
50
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.084
51
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.084
52
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.084
53
P ANR048 Aniridia 1 68 0.079
54
P MGL013 Megalencephaly 54 0.079
55
OST022 Osteopathia Striata with Cranial Sclerosis 49 0.079
56
ANR038 Anorexia Nervosa 1 21 0.079
57
BLD137 Blood Group--Ahonen 17 0.079
58
c ATS007 Autism Spectrum Disorder 68 0.074
59
P THN009 Thanatophoric Dysplasia, Type I 66 0.074
60
SND001 Sandhoff Disease 65 0.074
61
P STS008 Sotos Syndrome 1 56 0.074
62
GRG001 Greig Cephalopolysyndactyly Syndrome 53 0.074
63
P CNT056 Cantu Syndrome 51 0.074
64
c MGL009 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 40 0.074
65
OPS002 Opsismodysplasia 38 0.074
66
P EPL164 Epilepsy 70 0.068
67
P HYD006 Hydrocephalus 68 0.068
68
MTC007 Mitochondrial Complex I Deficiency 56 0.068
69
ACR008 Acrocallosal Syndrome 56 0.068
70
OPT054 Opitz-Kaveggia Syndrome 45 0.068
71
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 42 0.068
72
P HYP265 Hypotonia 40 0.068
73
DSM002 Desmosterolosis 35 0.068
74
PRM056 Primrose Syndrome 33 0.068
75
SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 23 0.068
76
CST001 Costello Syndrome 67 0.062
77
P CWD001 Cowden Disease 67 0.062
78
P CRD224 Cardiofaciocutaneous Syndrome 1 65 0.062
79
WVR001 Weaver Syndrome 61 0.062
80
MNK003 Muenke Syndrome 60 0.062
81
STR039 Sturge-Weber Syndrome 59 0.062
82
ALX003 Alexander Disease 58 0.062
83
c CWD006 Cowden Syndrome 1 54 0.062
84
LGS001 Legius Syndrome 52 0.062
85
HYP691 Hypomelanosis of Ito 49 0.062
86
P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 33 0.062
87
c KNN007 Kenny-Caffey Syndrome, Type 2 30 0.062
88
P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 25 0.062
89
CHR225 Chromosome 1q21.1 Duplication Syndrome 25 0.062
90
WTS001 Watson Syndrome 25 0.062
91
CRN272 Craniometadiaphyseal Dysplasia 23 0.062
92
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 21 0.062
93
ATK002 Atkin-Flaitz Syndrome 20 0.062
94
EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 17 0.062
95
P FRG001 Fragile X Syndrome 69 0.056
96
ACH004 Achondroplasia 67 0.056
97
NRF007 Neurofibroma 65 0.056
98
c MCP050 Mucopolysaccharidosis, Type Ii 64 0.056
99
c MNN047 Mannosidosis, Alpha B, Lysosomal 63 0.056
100
CHR619 Chromosome 2q35 Duplication Syndrome 62 0.056
101
CMP005 Campomelic Dysplasia 58 0.056
102
P ENC018 Encephalopathy 58 0.056
103
P MLT007 Multiple Epiphyseal Dysplasia 57 0.056
104
HYP042 Hypochondroplasia 57 0.056
105
P CNV004 Canavan Disease 54 0.056
106
PHL006 Phelan-Mcdermid Syndrome 53 0.056
107
CLB010 Coloboma of Macula 52 0.056
108
c THN010 Thanatophoric Dysplasia, Type Ii 51 0.056
109
JCB001 Jacobsen Syndrome 50 0.056
110
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.056
111
c RBN009 Robinow Syndrome, Autosomal Recessive 42 0.056
112
CRB009 Cerebritis 41 0.056
113
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 40 0.056
114
AYM001 Ayme-Gripp Syndrome 40 0.056
115
DNN002 Donnai-Barrow Syndrome 40 0.056
116
P GLT035 Glutaric Acidemia I 40 0.056
117
c OST126 Osteopetrosis, Autosomal Recessive 1 36 0.056
118
CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 36 0.056
119
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 33 0.056
120
OCL039 Oculoectodermal Syndrome 30 0.056
121
PRG123 Progeroid Syndrome, Neonatal 30 0.056
122
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 28 0.056
123
c CNG187 Congenital Disorder of Glycosylation, Type Iid 27 0.056
124
c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23 0.056
125
c OST106 Osteopetrosis, Autosomal Recessive 8 23 0.056
126
FBR087 Fibromatosis, Gingival, with Distinctive Facies 23 0.056
127
c CWD009 Cowden Syndrome 7 20 0.056
128
RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 19 0.056
129
SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 18 0.056
130
ALP046 Alport Syndrome, X-Linked 74 0.048
131
P OST001 Osteopetrosis 70 0.048
132
P HLP001 Holoprosencephaly 67 0.048
133
AGN016 Aging 65 0.048
134
P PLY006 Polydactyly 57 0.048
135
P MCR010 Microcephaly 57 0.048
136
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53 0.048
137
P CRN013 Craniodiaphyseal Dysplasia 48 0.048
138
HMM003 Hemimegalencephaly 47 0.048
139
NRF008 Neurofibromatosis-Noonan Syndrome 47 0.048
140
PRL032 Perlman Syndrome 44 0.048
141
PGT008 Paget Disease of Bone 5, Juvenile-Onset 44 0.048
142
HMH004 Hemihyperplasia, Isolated 43 0.048
143
TRP014 Triploidy 43 0.048
144
P BND018 Band Heterotopia 42 0.048
145
SPS057 Spasticity 41 0.048
146
PTN006 Pten Hamartoma Tumor Syndrome 38 0.048
147
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.048
148
c RBN017 Robinow Syndrome, Autosomal Dominant 2 37 0.048
149
PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 36 0.048
150
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 35 0.048
151
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 35 0.048
152
PLS030 Plasminogen Deficiency, Type I 33 0.048
153
SCH030 Schneckenbecken Dysplasia 32 0.048
154
CHR582 Chromosome 3q29 Duplication Syndrome 31 0.048
155
ALR002 Al-Raqad Syndrome 30 0.048
156
MST021 Meester-Loeys Syndrome 29 0.048
157
MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 29 0.048
158
MGL033 Megalocornea-Mental Retardation Syndrome 28 0.048
159
LSC003 Luscan-Lumish Syndrome 28 0.048
160
c NNN021 Noonan Syndrome 8 27 0.048
161
c RBN020 Robinow Syndrome, Autosomal Dominant 3 27 0.048
162
WLL012 Williams-Beuren Region Duplication Syndrome 26 0.048
163
ACR002 Acrocapitofemoral Dysplasia 25 0.048
164
WSM002 Waisman Syndrome 25 0.048
165
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 24 0.048
166
c LTH031 Lethal Congenital Contracture Syndrome 6 24 0.048
167
c STS007 Sotos Syndrome 2 24 0.048
168
MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 23 0.048
169
SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 23 0.048
170
CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23 0.048
171
SFR001 Sifrim-Hitz-Weiss Syndrome 22 0.048
172
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.048
173
RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 20 0.048
174
SHS001 Shashi-Pena Syndrome 19 0.048
175
SHR023 Short Stature Syndrome, Brussels Type 19 0.048
176
CLC055 Cole-Carpenter Syndrome 2 18 0.048
177
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 17 0.048
178
20P001 20p12.3 Microdeletion Syndrome 16 0.048
179
P MDL005 Medulloblastoma 76 0.039
180
P HPT021 Hepatitis 75 0.039
181
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.039
182
P TYS001 Tay-Sachs Disease 71 0.039
183
P TTR001 Tetralogy of Fallot 70 0.039
184
P JBR020 Joubert Syndrome 1 68 0.039
185
SCH036 Scheie Syndrome 68 0.039
186
BSL036 Basal Cell Nevus Syndrome 67 0.039
187
BRT054 Brittle Bone Disorder 67 0.039
188
P PRD006 Prader-Willi Syndrome 66 0.039
189
MCC012 Mccune-Albright Syndrome 65 0.039
190
MCK007 Muckle-Wells Syndrome 64 0.039
191
c LPM012 Lipomatosis, Multiple 64 0.039
192
c MCP049 Mucopolysaccharidosis, Type Vii 64 0.039
193
c NRF024 Neurofibromatosis, Type I 63 0.039
194
P CLD001 Cleidocranial Dysplasia 63 0.039
195
CNC002 Cinca Syndrome 62 0.039
196
HYP056 Hypoglycemia 62 0.039
197
MCR013 Microphthalmia 61 0.039
198
c MCP024 Mucopolysaccharidosis Type Vi 61 0.039
199
THR024 Thrombosis 61 0.039
200
P HMN010 Hemangioma 61 0.039
201
KLP010 Klippel-Trenaunay-Weber Syndrome 60 0.039
202
PTR032 Peters-Plus Syndrome 60 0.039
203
c MCP004 Mucopolysaccharidosis Iv 60 0.039
204
WLK001 Walker-Warburg Syndrome 59 0.039
205
SNS001 Sensorineural Hearing Loss 59 0.039
206
DBF001 D-Bifunctional Protein Deficiency 57 0.039
207
LKD001 Leukodystrophy 57 0.039
208
P SLV001 Silver-Russell Syndrome 57 0.039
209
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 57 0.039
210
CYT008 Cytomegalovirus Infection 57 0.039
211
P SCL018 Scoliosis 56 0.039
212
LKN001 Leukoencephalopathy with Vanishing White Matter 56 0.039
213
P MYP006 Myopia 56 0.039
214
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55 0.039
215
HRL003 Hurler Syndrome 55 0.039
216
DST005 Diastrophic Dysplasia 54 0.039
217
P SHR029 Short Syndrome 54 0.039
218
BRJ001 Borjeson-Forssman-Lehmann Syndrome 54 0.039
219
P TRM003 Tremor 54 0.039
220
MLT135 Multiple Sulfatase Deficiency 54 0.039
221
ART001 Arterial Tortuosity Syndrome 53 0.039
222
c ACH041 Achondrogenesis, Type Ii 53 0.039
223
PRP016 Paraplegia 53 0.039
224
HPT082 Hepatic Adenomas, Familial 52 0.039
225
NNT017 Neonatal Adrenoleukodystrophy 52 0.039
226
P THR117 Three M Syndrome 1 52 0.039
227
CCH002 Coach Syndrome 51 0.039
228
PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 51 0.039
229
P PRN026 Porencephaly 50 0.039
230
LRN003 Learning Disability 49 0.039
231
HYP231 Hypothalamic Hamartomas 49 0.039
232
c SPL024 Split-Hand/foot Malformation 3 49 0.039
233
CHR594 Chromosome 3q29 Deletion Syndrome 48 0.039
234
P PLG001 Pelger-Huet Anomaly 48 0.039
235
IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 48 0.039
236
DWR001 Dwarfism 48 0.039
237
ENC010 Encephalocraniocutaneous Lipomatosis 48 0.039
238
c BRN108 Branchiootic Syndrome 1 47 0.039
239
PLY012 Polyhydramnios 47 0.039
240
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 46 0.039
241
P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 46 0.039
242
P D2H002 D-2-Hydroxyglutaric Aciduria 1 46 0.039
243
MSS001 Masa Syndrome 46 0.039
244
HYP748 Hypertelorism 46 0.039
245
c ACH042 Achondrogenesis, Type Ib 46 0.039
246
MLB001 Mulibrey Nanism 46 0.039
247
c ACH033 Achondrogenesis, Type Ia 46 0.039
248
ARC002 Arachnoiditis 45 0.039
249
ALB002 Albinism 45 0.039
250
P ACH011 Achondrogenesis 44 0.039
251
c ATS082 Autosomal Dominant Robinow Syndrome 43 0.039
252
BDY001 Body Dysmorphic Disorder 43 0.039
253
c OST131 Osteopetrosis, Autosomal Dominant 2 43 0.039
254
c LRS002 Larsen-Like Syndrome 42 0.039
255
c PRX059 Peroxisome Biogenesis Disorder 1a 41 0.039
256
c SPN330 Spondylocostal Dysostosis 5 41 0.039
257
LBS001 Lubs X-Linked Mental Retardation Syndrome 41 0.039
258
PTT059 Pettigrew Syndrome 40 0.039
259
HYL004 Hyaline Fibromatosis Syndrome 40 0.039
260
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.039
261
CRP032 Corpus Callosum, Agenesis of 40 0.039
262
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.039
263
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40 0.039
264
c RBN018 Robinow Syndrome, Autosomal Dominant 1 39 0.039
265
ARC007 Arachnoid Cysts 39 0.039
266
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.039
267
47X002 47,xyy 38 0.039
268
P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 38 0.039
269
c BRT038 Baraitser-Winter Syndrome 1 37 0.039
270
PSD008 Pseudopapilledema 37 0.039
271
c ATS282 Autosomal Recessive Malignant Osteopetrosis 37 0.039
272
c RTS003 Ritscher-Schinzel Syndrome 1 36 0.039
273
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36 0.039
274
GRN013 Greenberg Dysplasia 36 0.039
275
PLY024 Polymicrogyria 36 0.039
276
GGN002 Gigantism 36 0.039
277
P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 36 0.039
278
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 36 0.039
279
c BRC109 Brachydactyly, Type E1 35 0.039
280
c CNG191 Congenital Disorder of Glycosylation, Type Iia 35 0.039
281
c ART147 Arthrogryposis, Distal, Type 7 35 0.039
282
P ARC016 Auriculocondylar Syndrome 1 35 0.039
283
FMR004 Fumarase Deficiency 34 0.039
284
CHR662 Chromosome 15q13.3 Deletion Syndrome 34 0.039
285
CHR543 Chromosome 2q37 Deletion Syndrome 34 0.039
286
TMP012 Temple Syndrome 34 0.039
287
CRY032 Carey-Fineman-Ziter Syndrome 33 0.039
288
GRW036 Growth Control, Y-Chromosome Influenced 33 0.039
289
DND005 Dandy-Walker Complex 33 0.039
290
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 33 0.039
291
LJN003 Lujan-Fryns Syndrome 33 0.039
292
TTR012 Tetrasomy 9p 32 0.039
293
c OST127 Osteogenesis Imperfecta, Type X 32 0.039
294
ISL062 Isolated Plagiocephaly 32 0.039
295
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 31 0.039
296
c BRT028 Brittle Cornea Syndrome 1 31 0.039
297
7Q1002 7q11.23 Duplication Syndrome 31 0.039
298
c HLP027 Holoprosencephaly 7 30 0.039
299
FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 30 0.039
300
DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 29 0.039
301
TMT003 Temtamy Syndrome 29 0.039
302
c NNN011 Noonan Syndrome 4 29 0.039
303
MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 29 0.039
304
CSN001 Cousin Syndrome 28 0.039
305
DYS045 Dysosteosclerosis 28 0.039
306
PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 28 0.039
307
c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 28 0.039
308
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28 0.039
309
RHM015 Rhombencephalosynapsis 28 0.039
310
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 28 0.039
311
P TRS029 Trisomy 1q 28 0.039
312
c JBR004 Joubert Syndrome 2 28 0.039
313
RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 27 0.039
314
SYN057 Syndromic Intellectual Disability 27 0.039
315
VSL002 Visual Epilepsy 27 0.039
316
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.039
317
c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 26 0.039
318
TTR027 Tetrasomy 15q26 26 0.039
319
c NNN013 Noonan Syndrome 6 26 0.039
320
CRN049 Craniolenticulosutural Dysplasia 26 0.039
321
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25 0.039
322
CHR590 Chromosome 15q11-Q13 Duplication Syndrome 25 0.039
323
ANG062 Angioosteohypertrophic Syndrome 25 0.039
324
c PTT029 Pitt-Hopkins-Like Syndrome 1 25 0.039
325
LBN004 Liebenberg Syndrome 25 0.039
326
FNT003 Fountain Syndrome 25 0.039
327
HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 25 0.039
328
CHR366 Chromosome 5p13 Duplication Syndrome 25 0.039
329
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 25 0.039
330
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 24 0.039
331
c LSS025 Lissencephaly 5 24 0.039
332
ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 24 0.039
333
BRN134 Brain Malformations with or Without Urinary Tract Defects 24 0.039
334
c OPT064 Optic Atrophy 11 24 0.039
335
c CRN221 Craniosynostosis 4 24 0.039
336
c FRN037 Frontal Encephalocele 24 0.039
337
TTR019 Tetrasomy 5p 24 0.039
338
SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 23 0.039
339
CHR252 Chromosome 5p Duplication 23 0.039
340
SDH011 Sedoheptulokinase Deficiency 23 0.039
341
c CWD004 Cowden Syndrome 5 23 0.039
342
AMN014 Aminopterin Syndrome Sine Aminopterin 23 0.039
343
MSC026 Muscular Dystrophy White Matter Spongiosis 23 0.039
344
c CRN110 Cranioectodermal Dysplasia 3 23 0.039
345
c CWD008 Cowden Syndrome 6 23 0.039
346
c ADM007 Adams-Oliver Syndrome 2 23 0.039
347
HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 22 0.039
348
MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 22 0.039
349
MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 22 0.039
350
c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 22 0.039
351
CHR483 Chromosome 3q13.31 Deletion Syndrome 22 0.039
352
c DSB005 Desbuquois Dysplasia 2 22 0.039
353
SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 22 0.039
354
HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 22 0.039
355
P MNS011 Monosomy 9q22.3 21 0.039
356
ARM006 Armfield X-Linked Mental Retardation Syndrome 21 0.039
357
c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 21 0.039
358
SMM003 Summitt Syndrome 21 0.039
359
CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 21 0.039
360
NSD003 Nasodigitoacoustic Syndrome 21 0.039
361
c JBR016 Joubert Syndrome 10 20 0.039
362
6QT002 6q Terminal Deletion Syndrome 20 0.039
363
THV001 Thauvin-Robinet-Faivre Syndrome 20 0.039
364
SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 20 0.039
365
c ARC011 Auriculocondylar Syndrome 2 20 0.039
366
c SVR048 Severe Canavan Disease 19 0.039
367
SPN113 Spinocerebellar Ataxia with Dysmorphism 19 0.039
368
CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 19 0.039
369
ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19 0.039
370
c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 19 0.039
371
c ANX008 Anauxetic Dysplasia 2 19 0.039
372
c ATS173 Autism 18 19 0.039
373
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 19 0.039
374
CRN224 Craniofaciofrontodigital Syndrome 18 0.039
375
MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18 0.039
376
HYP312 Hypophosphatemic Rickets and Hyperparathyroidism 18 0.039
377
AXN011 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 18 0.039
378
6Q1001 6q16 Deletion Syndrome 18 0.039
379
CRB164 Cerebrooculonasal Syndrome 18 0.039
380
7P2001 7p22.1 Microduplication Syndrome 18 0.039
381
FGS002 Fg Syndrome 2 18 0.039
382
ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 17 0.039
383
c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 17 0.039
384
DST055 Distal 22q11.2 Microduplication Syndrome 17 0.039
385
LTH005 Lethal Chondrodysplasia Moerman Type 17 0.039
386
c STS009 Sotos Syndrome 3 17 0.039
387
LNR012 Linear Verrucous Nevus Syndrome 16 0.039
388
ISL030 Isolated Cerebellar Hypoplasia/agenesis 16 0.039
389
1P2001 1p21.3 Microdeletion Syndrome 16 0.039
390
CRB071 Cerebral Gigantism Jaw Cysts 16 0.039
391
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 15 0.039
392
GRW027 Growth Restriction, Severe, with Distinctive Facies 15 0.039
393
TRP011 Triopia 15 0.039
394
OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 14 0.039
395
XLN179 X-Linked Intellectual Disability, Turner Type 14 0.039
396
c RBN010 Robinow-Like Syndrome 13 0.039
397
EPM003 Epimetaphyseal Skeletal Dysplasia 13 0.039
398
THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 13 0.039
399
CHR360 Chromosome 4q32.1-Q32.2 Triplication Syndrome 13 0.039
400
FCL076 Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 12 0.039
401
MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 12 0.039
402
DND021 Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant 9 0.039
403
P HPT023 Hepatocellular Carcinoma 94 0.028
404
P RHM011 Rheumatoid Arthritis 91 0.028
405
c SYS001 Systemic Lupus Erythematosus 86 0.028
406
MYL069 Myeloma, Multiple 86 0.028
407
P ATX030 Ataxia-Telangiectasia 80 0.028
408
P ART022 Arthritis 77 0.028
409
P INF038 Influenza 77 0.028
410
P RTN024 Retinoblastoma 76 0.028
411
P LVR013 Liver Disease 76 0.028
412
P OST002 Osteoporosis 75 0.028
413
P LKM002 Leukemia 75 0.028
414
SQM006 Squamous Cell Carcinoma 74 0.028
415
c HPT001 Hepatitis C 73 0.028
416
P NRB001 Neuroblastoma 73 0.028
417
LVR012 Liver Cirrhosis 73 0.028
418
MLN008 Melanoma 72 0.028
419
LSH001 Leishmaniasis 71 0.028
420
P LYM118 Lymphoma 71 0.028
421
P PNM007 Pneumonia 70 0.028
422
P HRP006 Herpes Simplex 70 0.028
423
P BCL006 B-Cell Lymphomas 70 0.028
424
P DMN001 Diamond-Blackfan Anemia 70 0.028
425
P LPS004 Lupus Erythematosus 69 0.028
426
P NJM001 Nijmegen Breakage Syndrome 69 0.028
427
P TBR001 Tuberous Sclerosis 69 0.028
428
P MYP004 Myopathy 69 0.028
429
c HMP029 Hemophilia a 69 0.028
430
c HPT016 Hepatitis B 68 0.028
431
SKN016 Skin Disease 68 0.028
432
LNG099 Lung Disease 67 0.028
433
OTT002 Otitis Media 67 0.028
434
P CNJ013 Conjunctivitis 67 0.028
435
DRM006 Dermatitis 67 0.028
436
PRT036 Peritonitis 67 0.028
437
P AST007 Astrocytoma 66 0.028
438
NVS017 Nevus, Epidermal 66 0.028
439
c BSL007 Basal Cell Carcinoma 66 0.028
440
P ENC004 Encephalitis 66 0.028
441
P THL005 Thalassemia 65 0.028
442
MLT157 Multiple System Atrophy 1 65 0.028
443
TTN003 Tetanus 65 0.028
444
P THR014 Thrombocytopenia 65 0.028
445
MDD011 Mood Disorder 64 0.028
446
DFF005 Diffuse Large B-Cell Lymphoma 64 0.028
447
ABT001 Abetalipoproteinemia 64 0.028
448
SVR097 Severe Cutaneous Adverse Reaction 64 0.028
449
P ESP024 Esophagitis 64 0.028
450
MNK001 Menkes Disease 64 0.028
451
c DPH024 Diaphragmatic Hernia, Congenital 63 0.028
452
P NRP001 Neuropathy 63 0.028
453
RBS001 Rabies 63 0.028
454
SHW002 Shwachman-Diamond Syndrome 63 0.028
455
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.028
456
c ADL017 Adult T-Cell Leukemia 63 0.028
457
P LYM025 Lymphedema 63 0.028
458
P PLC011 Pilocytic Astrocytoma 63 0.028
459
P SNS014 Sinusitis 62 0.028
460
P CTS001 Cutis Laxa 62 0.028
461
FCT007 Factor Vii Deficiency 62 0.028
462
P INT001 Intrahepatic Cholestasis 62 0.028
463
P ANG001 Angelman Syndrome 61 0.028
464
PRP030 Purpura 61 0.028
465
SDD001 Sudden Infant Death Syndrome 61 0.028
466
P DYS154 Dystonia 61 0.028
467
MCS002 Mucositis 61 0.028
468
P GST044 Gastritis 61 0.028
469
HRP004 Herpes Zoster 61 0.028
470
ANR040 Aneurysm 61 0.028
471
P GLM045 Glioma 61 0.028
472
SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 60 0.028
473
P CTR002 Cataract 60 0.028
474
CHL068 Cholestasis 60 0.028
475
P NTR004 Neutropenia 60 0.028
476
P DRR001 Diarrhea 60 0.028
477
P HYP040 Hypospadias 60 0.028
478
ERY003 Erythema Multiforme 60 0.028
479
BRN012 Bronchiolitis Obliterans 60 0.028
480
BRN002 Bronchiolitis 59 0.028
481
c VRL010 Viral Hepatitis 59 0.028
482
P ANT006 Antiphospholipid Syndrome 59 0.028
483
PLL001 Pallister-Hall Syndrome 59 0.028
484
HPT019 Hepatic Encephalopathy 59 0.028
485
VGN023 Vaginitis 59 0.028
486
VSC003 Visceral Leishmaniasis 59 0.028
487
P CFF008 Coffin-Siris Syndrome 1 59 0.028
488
P MYC008 Myocarditis 58 0.028
489
HMT018 Hematopoietic Stem Cell Transplantation 58 0.028
490
OCL020 Ocular Cicatricial Pemphigoid 58 0.028
491
c CNG021 Congenital Toxoplasmosis 57 0.028
492
SML019 Smallpox 57 0.028
493
INC021 Incontinentia Pigmenti 57 0.028
494
EPD016 Epidermolysis Bullosa 57 0.028
495
ATY005 Atypical Teratoid Rhabdoid Tumor 57 0.028
496
c OST122 Osteogenesis Imperfecta, Type Iii 57 0.028
497
BRN106 Burns 57 0.028
498
PNM008 Pneumothorax 57 0.028
499
P ZLL001 Zellweger Syndrome 56 0.028
500
P DRM007 Dermatitis Herpetiformis 56 0.028
501
P ALP008 Alopecia 56 0.028
502
DBN001 Dubin-Johnson Syndrome 56 0.028
503
HYP060 Hyperinsulinism 56 0.028
504
LYM027 Lymphopenia 56 0.028
505
KRT006 Keratoconjunctivitis 56 0.028
506
c BRD010 Bardet-Biedl Syndrome 1 56 0.028
507
P HRD011 Hereditary Spherocytosis 55 0.028
508
P SYP003 Syphilis 55 0.028
509
P SMP003 Simpson-Golabi-Behmel Syndrome 54 0.028
510
SCH068 Schwartz-Jampel Syndrome, Type 1 54 0.028
511
CCT002 Cicatricial Pemphigoid 54 0.028
512
ACR011 Acromesomelic Dysplasia, Maroteaux Type 54 0.028
513
HYP080 Hypogonadism 54 0.028
514
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53 0.028
515
P EPN002 Ependymoma 53 0.028
516
INT075 Intracranial Hypertension 53 0.028
517
P SCH018 Schizencephaly 53 0.028
518
P TRT010 Teratoma 53 0.028
519
STM007 Stomatitis 52 0.028
520
CRD223 Cardiac Arrhythmia 52 0.028
521
P LFT003 Left Ventricular Noncompaction 52 0.028
522
GRW007 Growth Hormone Deficiency 52 0.028
523
RTN023 Retinitis 52 0.028
524
FML089 Familial Thoracic Aortic Aneurysm and Dissection 51 0.028
525
NNT012 Neonatal Jaundice 51 0.028
526
CRN027 Corneal Neovascularization 51 0.028
527
INT067 Interstitial Nephritis 51 0.028
528
CHN070 Cohen-Gibson Syndrome 51 0.028
529
P END047 Endophthalmitis 51 0.028
530
CHL004 Cholelithiasis 51 0.028
531
P LPM005 Lipomatosis 50 0.028
532
PRT018 Portal Vein Thrombosis 50 0.028
533
FLL008 Folliculitis 50 0.028
534
GNG002 Ganglioneuroma 50 0.028
535
SYN005 Synostosis 50 0.028
536
P TCL004 T-Cell Leukemia 50 0.028
537
PRP007 Priapism 49 0.028
538
c EPL099 Epileptic Encephalopathy, Early Infantile, 15 49 0.028
539
P LSS002 Lissencephaly 49 0.028
540
GRN017 Granulocytopenia 49 0.028
541
AST006 Astigmatism 48 0.028
542
SKL017 Skeletal Dysplasias 48 0.028
543
P ENC008 Encephalocele 48 0.028
544
CVR006 Cavernous Hemangioma 48 0.028
545
DYS018 Dysostosis 48 0.028
546
DYS073 Dysphagia 47 0.028
547
PPL058 Papilloma of Choroid Plexus 47 0.028
548
LMB050 Limbal Stem Cell Deficiency 47 0.028
549
SHR098 Short-Rib Thoracic Dysplasia 12 46 0.028
550
END020 Endocardial Fibroelastosis 46 0.028
551
MYP136 Myopathy, Centronuclear, X-Linked 46 0.028
552
P PRT026 Parotitis 45 0.028
553
MYC013 Mycobacterium Abscessus 45 0.028
554
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 45 0.028
555
VLV010 Vulvovaginitis 45 0.028
556
ATP013 Atopic Keratoconjunctivitis 45 0.028
557
BRN014 Bronchopneumonia 45 0.028
558
MCR037 Macroglossia 44 0.028
559
P PRP034 Purpura Fulminans 44 0.028
560
P PRV002 Periventricular Nodular Heterotopia 44 0.028
561
PCT003 Pectus Excavatum 44 0.028
562
NRL004 Neuroleptic Malignant Syndrome 44 0.028
563
P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 44 0.028
564
KRT008 Keratopathy 44 0.028
565
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 43 0.028
566
NRN002 Neuronitis 43 0.028
567
c BRT050 Bartter Syndrome, Type 2, Antenatal 43 0.028
568
MNN021 Meningococcemia 43 0.028
569
P SLL003 Salla Disease 43 0.028
570
LGN005 Ligneous Conjunctivitis 42 0.028
571
ACT167 Acute Generalized Exanthematous Pustulosis 42 0.028
572
c BSL024 Basal Cell Carcinoma 1 42 0.028
573
P CNG003 Congenital Dyserythropoietic Anemia 42 0.028
574
c NNN010 Noonan Syndrome 3 42 0.028
575
PLL008 Pallister-Killian Syndrome 41 0.028
576
P PNT019 Pontocerebellar Hypoplasia 41 0.028
577
HYP236 Hyperbilirubinemia, Rotor Type 41 0.028
578
OLG003 Oligohydramnios 41 0.028
579
c SCN006 Secondary Syphilis 40 0.028
580
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 40 0.028
581
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.028
582
PLX002 Plexiform Neurofibroma 40 0.028
583
WBR001 Weber Syndrome 40 0.028
584
CRB002 Cerebral Primitive Neuroectodermal Tumor 40 0.028
585
CNG069 Congenital Cytomegalovirus 40 0.028
586
c NNN012 Noonan Syndrome 5 39 0.028
587
CHL013 Cholecystolithiasis 39 0.028
588
ATS008 Autosomal Dominant Disease 39 0.028
589
BNM029 Bone Mineral Density Quantitative Trait Locus 15 39 0.028
590
P CRB088 Cerebral Atrophy 38 0.028
591
CHL039 Choledocholithiasis 38 0.028
592
RVL002 Ruvalcaba Syndrome 37 0.028
593
c BLD140 Blood Group, I System 37 0.028
594
c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 37 0.028
595
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 37 0.028
596
PRN029 Parainfluenza Virus Type 3 36 0.028
597
ANG037 Angiomatosis 36 0.028
598
HYD001 Hydranencephaly 36 0.028
599
P SPR041 Spermatogenic Failure 6 36 0.028
600
c EXS020 Exostoses, Multiple, Type Ii 35 0.028
601
ENT005 Entropion 35 0.028
602
c SCL042 Sclerosteosis 2 35 0.028
603
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35 0.028
604
c PNT010 Pontocerebellar Hypoplasia Type 1 35 0.028
605
SGT001 Sagittal Sinus Thrombosis 34 0.028
606
c BSL011 Basal Cell Carcinoma, Multiple 34 0.028
607
ACR016 Acromesomelic Dysplasia 33 0.028
608
c OST129 Osteopetrosis, Autosomal Recessive 2 33 0.028
609
c OST163 Osteopetrosis, Autosomal Recessive 3 33 0.028
610
BNM022 Bone Mineral Density Quantitative Trait Locus 8 32 0.028
611
PLY110 Polymicrogyria, Bilateral Temporooccipital 32 0.028
612
P SPS008 Spastic Ataxia 32 0.028
613
CLD014 Cole Disease 32 0.028
614
TST033 Testicular Regression Syndrome 32 0.028
615
c OST134 Osteopetrosis, Autosomal Recessive 6 31 0.028
616
12Q002 12q14 Microdeletion Syndrome 31 0.028
617
c ACR044 Acroosteolysis Dominant Type 29 0.028
618
OPT032 Optic Pathway Glioma 29 0.028
619
MGL003 Megalocornea 28 0.028
620
EXF003 Exfoliative Dermatitis 28 0.028
621
c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 28 0.028
622
ORB007 Orbital Cyst 28 0.028
623
CRN009 Corneal Ectasia 27 0.028
624
RHM034 Rahman Syndrome 27 0.028
625
TTT001 Tatton-Brown-Rahman Syndrome 27 0.028
626
CHR190 Chromosome 12p Duplication 27 0.028
627
ATR055 Atrial Septal Aneurysm 27 0.028
628
c CWD007 Cowden Syndrome 3 26 0.028
629
PRT043 Parietal Foramina with Cleidocranial Dysplasia 26 0.028
630
c PRT063 Proteus-Like Syndrome 26 0.028
631
PTY004 Pityriasis Lichenoides 26 0.028
632
MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 25 0.028
633
c OST136 Osteopetrosis, Autosomal Recessive 7 25 0.028
634
OCC011 Occipital Encephalocele 25 0.028
635
CRN266 Craniofacial Dyssynostosis with Short Stature 24 0.028
636
CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 24 0.028
637
MRF019 Marfan Lipodystrophy Syndrome 24 0.028
638
PTY006 Pityriasis Lichenoides Et Varioliformis Acuta 24 0.028
639
c OST120 Osteopetrosis, Autosomal Recessive 5 23 0.028
640
DND013 Dandy-Walker Malformation with Postaxial Polydactyly 23 0.028
641
XP2002 Xp22.13p22.2 Duplication Syndrome 23 0.028
642
BLD163 Blood Group, Dombrock System 23 0.028
643
c OST137 Osteopetrosis, Autosomal Recessive 4 23 0.028
644
MGL027 Megalocornea-Intellectual Disability Syndrome 22 0.028
645
DCR002 Dacryocystocele 22 0.028
646
HRY002 Hairy Tongue 22 0.028
647
c RTS002 Ritscher-Schinzel Syndrome 2 22 0.028
648
c PRX058 Peroxisome Biogenesis Disorder 4b 21 0.028
649
SHK001 Shaken Baby Syndrome 21 0.028
650
SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 20 0.028
651
FGS004 Fg Syndrome 4 20 0.028
652
XQ1001 Xq12-Q13.3 Duplication Syndrome 20 0.028
653
CRN083 Craniofacial Dyssynostosis 20 0.028
654
SPR033 Superficial Spreading Melanoma 20 0.028
655
NRD023 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 20 0.028
656
ATM026 Autoimmune Progesterone Dermatitis 19 0.028
657
BLC017 Black Hairy Tongue 19 0.028
658
CHR393 Chromosome 19p13.13 Deletion Syndrome 19 0.028
659
CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 19 0.028
660
DCR007 Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome 19 0.028
661
ISL067 Isolated Congenital Megalocornea 18 0.028
662
c CWD003 Cowden Syndrome 2 18 0.028
663
c CWD005 Cowden Syndrome 4 18 0.028
664
c CHR059 Chronic Endophthalmitis 18 0.028
665
CNJ004 Conjunctival Pigmentation 18 0.028
666
SPN155 Spondylospinal Thoracic Dysostosis 18 0.028
667
ERL033 Early-Onset Parkinsonism-Intellectual Disability Syndrome 17 0.028
668
CLP002 Colpocephaly 17 0.028
669
HMN038 Human Coronavirus Sensitivity 17 0.028
670
BBB001 Bobble-Head Doll Syndrome 17 0.028
671
FBR022 Febrile Ulceronecrotic Mucha-Habermann Disease 17 0.028
672
LTH046 Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type 16 0.028
673
AND005 Androgen Insensitivity Syndrome, Mild 16 0.028
674
c JBR043 Joubert Syndrome 32 16 0.028
675
c MNT323 Mental Retardation, Autosomal Dominant 48 15 0.028
676
MGL037 Megalencephaly with Dysmyelination 15 0.028
677
PLR024 Pilarowski-Bjornsson Syndrome 14 0.028
678
ALK024 Alkuraya-Kucinskas Syndrome 13 0.028
679
ARC025 Arachnoid Cysts, Intracranial 13 0.028
680
TRM025 Tremor, Hereditary Essential, and Idiopathic Normal Pressure Hydrocephalus 13 0.028
681
P 17Q010 17q12 Deletion Syndrome 12 0.028
682
LJN002 Lujan Syndrome 12 0.028
683
LKD026 Leukodystrophy, Progressive, Early Childhood-Onset 9 0.028
684
PPP001 Ppp2r5d-Related Intellectual Disability 5 0.028
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