Search results for "macrocephaly"

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

354 hits were found for 'macrocephaly'

# Family MCID Name MIFTS Score
1
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 22 3.957
2
MCR096 Macrocephaly/autism Syndrome 18 3.942
3
MCR168 Macrocephaly - Spastic Paraplegia - Dysmorphism 14 3.614
4
MMS001 Momo Syndrome 25 3.316
5
MCR031 Macrocephaly, Benign Familial 7 3.219
6
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 4 3.219
7
MCR033 Macrocephaly-Capillary Malformation 15 2.982
8
MGL021 Megalencephaly-Capillary Malformation Syndrome 16 2.841
9
DND011 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia and Brachytelephalangy 4 2.825
10
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 4 2.825
11
ZRS001 Zori Stalker Williams Syndrome 14 2.807
12
FCL035 Facial Dysmorphism - Macrocephaly - Myopia - Dandy-Walker Malformation 14 2.807
13
MCR221 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 11 2.787
14
INT251 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome 5 2.787
15
BGT001 Bagatelle Cassidy Syndrome 4 2.787
16
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 63 2.353
17
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 30 2.337
18
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 27 2.337
19
P PRT008 Proteus Syndrome 61 2.319
20
MCR174 Macrocephaly - Short Stature - Paraplegia 12 2.319
21
DND008 Dandy-Walker Malformation Associated with Macrocephaly, Facial Anomalies, Developmental Delay, and Brain Stem Dysgenesis 4 2.319
22
XLN139 X-Linked Intellectual Disability - Macrocephaly - Macroorchidism 15 2.299
23
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 5 2.299
24
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 4 2.299
25
MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 3 2.299
26
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 28 2.276
27
OST102 Osteoporosis - Macrocephaly - Blindness - Joint Hyperlaxity 10 2.276
28
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 4 2.276
29
MCR198 Macrocephaly - Immune Deficiency - Anemia 4 2.276
30
XLN153 X-Linked Recessive Intellectual Disability - Macrocephaly - Ciliary Dysfunction 3 2.276
31
PRT093 Proteus Syndrome, Somatic 45 1.640
32
KNS002 Kniest Like Dysplasia Lethal 18 1.640
33
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 17 1.640
34
MLT096 Multiple Epiphyseal Dysplasia, Al-Gazali Type 15 1.640
35
c MNT216 Mental Retardation, Autosomal Recessive 41 14 1.640
36
MCD001 Mac Dermot Winter Syndrome 19 1.609
37
c FCS008 Fucosidosis Type 1 8 1.609
38
CLR029 Clark-Baraitser Syndrome 6 1.609
39
CTS011 Cutis Marmorata Telangiectatica Congenita 45 0.196
40
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 42 0.174
41
MNT147 Mental Retardation 52 0.148
42
NRN002 Neuronitis 44 0.117
43
P OBS005 Obesity 91 0.111
44
LRN003 Learning Disability 63 0.105
45
P HYD006 Hydrocephalus 68 0.098
46
SYN053 Syndromic Diarrhea 34 0.098
47
P MLT007 Multiple Epiphyseal Dysplasia 73 0.083
48
P SHR002 Short Stature 68 0.083
49
SCH016 Schimke Immunoosseous Dysplasia 47 0.083
50
MGL013 Megalencephaly 45 0.083
51
TTR016 Tetra-Amelia Syndrome 42 0.083
52
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 0.074
53
KLP002 Klippel-Trenaunay Syndrome 69 0.074
54
P ATS007 Autism Spectrum Disorder 59 0.074
55
GRG001 Greig Cephalopolysyndactyly Syndrome 55 0.074
56
MCR010 Microcephaly 53 0.074
57
c SYN001 Syndactyly 51 0.074
58
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 51 0.074
59
HYP265 Hypotonia 41 0.074
60
SPS057 Spasticity 38 0.074
61
P INT105 Intellectual Disability Multi-Gene Panels 16 0.074
62
P FRG001 Fragile X Syndrome 76 0.064
63
TTR001 Tetralogy of Fallot 75 0.064
64
P ANG001 Angelman Syndrome 70 0.064
65
HMH002 Hemihypertrophy 64 0.064
66
MTC007 Mitochondrial Complex I Deficiency 60 0.064
67
P CWD006 Cowden Syndrome 1 58 0.064
68
P DND001 Dandy-Walker Syndrome 58 0.064
69
c MCP009 Mucopolysaccharidosis Ii 57 0.064
70
P WVR001 Weaver Syndrome 57 0.064
71
P PLY006 Polydactyly 57 0.064
72
P OP3001 Opa3-Related 3-Methylglutaconic Aciduria 56 0.064
73
HMM003 Hemimegalencephaly 55 0.064
74
THR013 Thoracic Outlet Syndrome 52 0.064
75
P SZR006 Seizure Disorder 51 0.064
76
c STS001 Sotos Syndrome 50 0.064
77
c OPT004 Optic Atrophy 50 0.064
78
PRP016 Paraplegia 48 0.064
79
CRB009 Cerebritis 39 0.064
80
OPS002 Opsismodysplasia 38 0.064
81
HYP264 Hypertonia 35 0.064
82
WTS001 Watson Syndrome 25 0.064
83
P TYS001 Tay-Sachs Disease 83 0.052
84
P MCP002 Mucopolysaccharidosis I 78 0.052
85
ANK002 Ankylosing Spondylitis 77 0.052
86
MCC001 Mccune Albright Syndrome 76 0.052
87
c AMY001 Amyotrophic Lateral Sclerosis 67 0.052
88
STT001 Status Epilepticus 66 0.052
89
P OST001 Osteopetrosis 66 0.052
90
CMP005 Campomelic Dysplasia 65 0.052
91
c MCP004 Mucopolysaccharidosis Iv 65 0.052
92
CST001 Costello Syndrome 65 0.052
93
ART019 Aortic Valve Stenosis 64 0.052
94
c HLP001 Holoprosencephaly 64 0.052
95
MNK003 Muenke Syndrome 63 0.052
96
DFC004 Deficiency Anemia 63 0.052
97
ARC007 Arachnoid Cysts 62 0.052
98
c AMY077 Amyotrophic Lateral Sclerosis Type 18 60 0.052
99
P THN004 Thanatophoric Dysplasia Type 1 60 0.052
100
DST005 Diastrophic Dysplasia 59 0.052
101
ALP008 Alopecia 57 0.052
102
c BRC006 Brachydactyly 57 0.052
103
P AMY074 Amyotrophic Lateral Sclerosis Type 14 56 0.052
104
c TRM003 Tremor 56 0.052
105
P HLP012 Holoprosencephaly-3 55 0.052
106
INC001 Incontinentia Pigmenti Achromians 55 0.052
107
PLY012 Polyhydramnios 54 0.052
108
HMP005 Hemiplegia 53 0.052
109
TRP014 Triploidy 52 0.052
110
CRN014 Cronkhite-Canada Syndrome 52 0.052
111
P L2H001 L-2-Hydroxyglutaric Aciduria 50 0.052
112
HJD001 Hajdu-Cheney Syndrome 50 0.052
113
SGT001 Sagittal Sinus Thrombosis 50 0.052
114
c CTS001 Cutis Laxa 49 0.052
115
P CNT056 Cantu Syndrome 49 0.052
116
P ACH008 Achondrogenesis Type Ia 48 0.052
117
c GGN002 Gigantism 48 0.052
118
EPL002 Epilepsy Syndrome 46 0.052
119
ARC002 Arachnoiditis 44 0.052
120
c MYP006 Myopia 41 0.052
121
P MYP018 Myopia 6 36 0.052
122
ENP001 Enophthalmos 36 0.052
123
IMM088 Immunodeficiency 36 34 0.052
124
PLY024 Polymicrogyria 34 0.052
125
OST098 Osteopathia Striata Cranial Sclerosis 32 0.052
126
FGS001 Fg Syndrome 32 0.052
127
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 30 0.052
128
SYN057 Syndromic Intellectual Disability 22 0.052
129
PSD008 Pseudopapilledema 21 0.052
130
c CHR225 Chromosome 1q21.1 Duplication Syndrome 20 0.052
131
P NRF002 Neurofibromatosis 94 0.037
132
P LVR011 Liver Cancer 91 0.037
133
P HYP075 Hypertension 87 0.037
134
P RTN024 Retinoblastoma 82 0.037
135
CLD001 Cleidocranial Dysplasia 79 0.037
136
ACH004 Achondroplasia 78 0.037
137
P JVN014 Juvenile Polyposis Syndrome 76 0.037
138
P OST002 Osteoporosis 76 0.037
139
SKN016 Skin Disease 75 0.037
140
MNK001 Menkes Disease 74 0.037
141
c PRM002 Primary Hyperoxaluria 74 0.037
142
c CWD001 Cowden Disease 72 0.037
143
P PRD006 Prader-Willi Syndrome 72 0.037
144
PRT036 Peritonitis 72 0.037
145
ATS001 Autistic Disorder 71 0.037
146
CHR029 Choroid Plexus Papilloma 71 0.037
147
P HMN010 Hemangioma 71 0.037
148
P NRB001 Neuroblastoma 70 0.037
149
P FCL005 Focal Segmental Glomerulosclerosis 70 0.037
150
P NJM001 Nijmegen Breakage Syndrome 70 0.037
151
c MCP005 Mucopolysaccharidosis Vi 69 0.037
152
HYP042 Hypochondroplasia 69 0.037
153
P RCK004 Rickets 68 0.037
154
CLB001 Coloboma 68 0.037
155
SPN038 Spina Bifida 68 0.037
156
P HYP056 Hypoglycemia 67 0.037
157
P CNV004 Canavan Disease 67 0.037
158
P BSL007 Basal Cell Carcinoma 67 0.037
159
MCK007 Muckle-Wells Syndrome 67 0.037
160
P FNC001 Fanconi's Anemia 67 0.037
161
LGG001 Legg-Calve-Perthes Disease 66 0.037
162
ANT006 Antiphospholipid Syndrome 66 0.037
163
SND001 Sandhoff Disease 65 0.037
164
P ESP024 Esophagitis 64 0.037
165
VGN023 Vaginitis 63 0.037
166
c DMN001 Diamond-Blackfan Anemia 62 0.037
167
VCT001 Vacterl Association 62 0.037
168
c OST110 Osteogenesis Imperfecta, Type Xv 62 0.037
169
P SCH018 Schizencephaly 61 0.037
170
c DYS154 Dystonia 61 0.037
171
OLG003 Oligohydramnios 60 0.037
172
CRB021 Cerebral Malaria 60 0.037
173
JCB001 Jacobsen Syndrome 60 0.037
174
ACR008 Acrocallosal Syndrome 60 0.037
175
P HYP080 Hypogonadism 60 0.037
176
HWK001 Hawkinsinuria 59 0.037
177
c TRT010 Teratoma 59 0.037
178
P CFF001 Coffin-Siris Syndrome 59 0.037
179
MYC002 Mycobacterium Avium Complex Disease 59 0.037
180
NRC020 Neuroectodermal Tumor 59 0.037
181
SCN006 Secondary Syphilis 57 0.037
182
SMT015 Smith Magenis Syndrome 57 0.037
183
ESP020 Esophageal Atresia 57 0.037
184
ANK001 Ankylosis 57 0.037
185
c HYP060 Hyperinsulinism 57 0.037
186
BRJ001 Borjeson-Forssman-Lehmann Syndrome 57 0.037
187
MCS001 Mucosulfatidosis 56 0.037
188
MCR103 Microtia 56 0.037
189
MLB001 Mulibrey Nanism 55 0.037
190
P HYP040 Hypospadias 55 0.037
191
P DWR001 Dwarfism 55 0.037
192
P FNC025 Fanconi Anemia, Complementation Group J 55 0.037
193
ART001 Arterial Tortuosity Syndrome 55 0.037
194
c ACR001 Aicardi-Goutieres Syndrome 54 0.037
195
c SYN005 Synostosis 54 0.037
196
MCR013 Microphthalmia 54 0.037
197
END020 Endocardial Fibroelastosis 54 0.037
198
CTN014 Cutaneous Mastocytosis 53 0.037
199
CCH002 Coach Syndrome 53 0.037
200
INT075 Intracranial Hypertension 53 0.037
201
BLN003 Blindness 53 0.037
202
c LYM025 Lymphedema 53 0.037
203
P CNG001 Congenital Myasthenic Syndrome 53 0.037
204
OST011 Osteomalacia 53 0.037
205
c CRD167 Cardiofaciocutaneous Syndrome 4 52 0.037
206
LKD001 Leukodystrophy 51 0.037
207
PGT004 Paget Disease, Juvenile 49 0.037
208
JVN016 Juvenile Hyaline Fibromatosis 49 0.037
209
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 49 0.037
210
c CNT035 Central Nervous System Disease 49 0.037
211
P GLT012 Glutaric Acidemia Type I 49 0.037
212
TRC040 Tracheoesophageal Fistula 49 0.037
213
IMP002 Imperforate Anus 48 0.037
214
LGS001 Legius Syndrome 48 0.037
215
AMB002 Amblyopia 47 0.037
216
ANR040 Aneurysm 46 0.037
217
RVL002 Ruvalcaba Syndrome 46 0.037
218
P MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 46 0.037
219
c BRC013 Brachydactyly Type E 45 0.037
220
CRB088 Cerebral Atrophy 44 0.037
221
P ATR066 Atrial Septal Defect 2 44 0.037
222
P SMP004 Simpson-Golabi-Behmel Syndrome Type 1 44 0.037
223
TTH002 Tooth Agenesis 43 0.037
224
CHR282 Chronic Infantile Neurological Cutaneous Articular Syndrome 43 0.037
225
CRB002 Cerebral Primitive Neuroectodermal Tumor 42 0.037
226
P OST052 Osteopetrosis Autosomal Recessive 2 42 0.037
227
c PRX056 Peroxisome Biogenesis Disorder 11b 42 0.037
228
c PNT019 Pontocerebellar Hypoplasia 41 0.037
229
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 41 0.037
230
RHB022 Rhabdoid Tumors, Somatic 40 0.037
231
P RBN011 Robinow Syndrome, Autosomal Dominant 40 0.037
232
TTH016 Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 40 0.037
233
PHL006 Phelan-Mcdermid Syndrome 40 0.037
234
c SPN121 Spondylocostal Dysostosis 1 40 0.037
235
CRB045 Cerebellar Hypoplasia 40 0.037
236
DNN002 Donnai-Barrow Syndrome 40 0.037
237
AND001 Anodontia 39 0.037
238
HYD001 Hydranencephaly 39 0.037
239
c THN002 Thanatophoric Dysplasia Type 2 39 0.037
240
ANG037 Angiomatosis 38 0.037
241
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 38 0.037
242
TTH001 Tooth Ankylosis 38 0.037
243
P MCR210 Microphthalmia, Isolated, with Coloboma 7 37 0.037
244
IPX001 Ipex Syndrome 37 0.037
245
SKL017 Skeletal Dysplasias 36 0.037
246
c ACH009 Achondrogenesis Type Ib 36 0.037
247
LJN002 Lujan Syndrome 36 0.037
248
P STS008 Sotos Syndrome 1 36 0.037
249
ANN001 Anonychia Congenita 36 0.037
250
ENC010 Encephalocraniocutaneous Lipomatosis 35 0.037
251
P 2Q3002 2q37 Microdeletion Syndrome 35 0.037
252
15Q001 15q13.3 Microdeletion 35 0.037
253
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 34 0.037
254
NNT023 Neonatal Progeroid Syndrome 34 0.037
255
BDY001 Body Dysmorphic Disorder 34 0.037
256
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 33 0.037
257
DSM002 Desmosterolosis 32 0.037
258
DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 32 0.037
259
SCH030 Schneckenbecken Dysplasia 32 0.037
260
c MNN025 Mannosidosis, Alpha-, Types I and Ii 31 0.037
261
P ANP018 Anophthalmia Plus Syndrome 31 0.037
262
c RBN009 Robinow Syndrome, Autosomal Recessive 31 0.037
263
CRN013 Craniodiaphyseal Dysplasia 31 0.037
264
P ATR010 Atrial Heart Septal Defect 31 0.037
265
c OST050 Osteopetrosis Autosomal Dominant Type 2 30 0.037
266
c PNT010 Pontocerebellar Hypoplasia Type 1 30 0.037
267
LNZ002 Lenz Majewski Hyperostotic Dwarfism 30 0.037
268
c CNG085 Congenital Disorder of Glycosylation Type 2d 30 0.037
269
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 29 0.037
270
P SPN274 Spondylocostal Dysostosis 5, Autosomal Dominant 29 0.037
271
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 29 0.037
272
12Q002 12q14 Microdeletion Syndrome 28 0.037
273
HRT011 Heart Septal Defect 28 0.037
274
DND007 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 28 0.037
275
DYS045 Dysosteosclerosis 27 0.037
276
TMT003 Temtamy Syndrome 27 0.037
277
ANT054 Anotia 27 0.037
278
3Q2001 3q29 Deletion Syndrome 27 0.037
279
c OST051 Osteopetrosis Autosomal Recessive 1 26 0.037
280
c CRN217 Craniosynostosis 3 26 0.037
281
MCR105 Macrostomia 26 0.037
282
PRM056 Primrose Syndrome 25 0.037
283
XLN064 X-Linked Syndromic Mental Retardation, Claes-Jensen Type 25 0.037
284
P SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 25 0.037
285
LBN004 Liebenberg Syndrome 24 0.037
286
SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 23 0.037
287
LMB011 Limb Deficiencies Distal with Micrognathia 23 0.037
288
AGN008 Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia 23 0.037
289
c FRN037 Frontal Encephalocele 23 0.037
290
FNT003 Fountain Syndrome 23 0.037
291
ART007 Aorta Atresia 23 0.037
292
ATR055 Atrial Septal Aneurysm 23 0.037
293
c BNG076 Benign Exophthalmos Syndrome 22 0.037
294
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 22 0.037
295
MCR163 Microphthalmia with Linear Skin Defects Syndrome 22 0.037
296
OCL039 Oculoectodermal Syndrome 22 0.037
297
CRN083 Craniofacial Dyssynostosis 22 0.037
298
c CHR224 Chromosome 1q Duplication 22 0.037
299
CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 21 0.037
300
c 3Q1001 3q13 Microdeletion Syndrome 21 0.037
301
ACR002 Acrocapitofemoral Dysplasia 21 0.037
302
ANR019 Anorectal Atresia 21 0.037
303
c MLG049 Malignant Syringoma 20 0.037
304
SMM003 Summitt Syndrome 20 0.037
305
ARM005 Armfield Syndrome 20 0.037
306
PRX069 Proximal 16p11.2 Microdeletion Syndrome 20 0.037
307
P MNT109 Mental Retardation, X-Linked, Syndromic 15 20 0.037
308
CHR246 Chromosome 3q29 Microduplication Syndrome 20 0.037
309
NSD003 Nasodigitoacoustic Syndrome 19 0.037
310
PYK001 Pyknoachondrogenesis 19 0.037
311
CRN087 Craniomicromelic Syndrome 19 0.037
312
HYD023 Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 19 0.037
313
CMM015 Commissural Facial Cleft 19 0.037
314
SGM007 Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus 19 0.037
315
MGL027 Megalocornea-Intellectual Disability Syndrome 18 0.037
316
c CHR252 Chromosome 5p Duplication 18 0.037
317
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 18 0.037
318
c MNS011 Monosomy 9q22.3 18 0.037
319
CLP002 Colpocephaly 18 0.037
320
BBB001 Bobble-Head Doll Syndrome 18 0.037
321
EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 18 0.037
322
15Q004 15q11q13 Microduplication Syndrome 17 0.037
323
RDL024 Radio-Ulnar Synostosis - Intellectual Disability - Hypotonia 17 0.037
324
OST047 Osteopenia and Sparse Hair 17 0.037
325
ATK001 Atkin Syndrome 17 0.037
326
FGS002 Fg Syndrome 2 16 0.037
327
MSC026 Muscular Dystrophy White Matter Spongiosis 16 0.037
328
c BRC033 Brachydactyly Type A3 16 0.037
329
6Q1001 6q16 Deletion Syndrome 16 0.037
330
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 16 0.037
331
MNT069 Mental Retardation with Language Impairment and Autistic Features 16 0.037
332
LTH005 Lethal Chondrodysplasia Moerman Type 16 0.037
333
c SVR048 Severe Canavan Disease 16 0.037
334
SPN113 Spinocerebellar Ataxia with Dysmorphism 15 0.037
335
DST055 Distal 22q11.2 Microduplication Syndrome 15 0.037
336
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 15 0.037
337
ECT071 Ectodermal Dysplasia - Intellectual Disability - Central Nervous System Malformation 15 0.037
338
20P001 20p12.3 Microdeletion Syndrome 15 0.037
339
10Q001 10q22.3q23.3 Microdeletion Syndrome 14 0.037
340
ERL022 Early-Onset Parkinsonism - Intellectual Disability 14 0.037
341
LNR012 Linear Verrucous Nevus Syndrome 14 0.037
342
MTP024 Metaphyseal Dysostosis - Intellectual Disability - Conductive Deafness 14 0.037
343
CRB071 Cerebral Gigantism Jaw Cysts 13 0.037
344
SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 13 0.037
345
THN008 Thin Ribs - Tubular Bones - Dysmorphism 13 0.037
346
1Q2002 1q21.1 Deletion 12 0.037
347
OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 12 0.037
348
ISL030 Isolated Cerebellar Hypoplasia/agenesis 12 0.037
349
GNG024 Gingival Fibromatosis - Facial Dysmorphism 11 0.037
350
TRP011 Triopia 11 0.037
351
CRN203 Craniometadiaphyseal Dysplasia, Wormian Bone Type 10 0.037
352
EPM003 Epimetaphyseal Skeletal Dysplasia 10 0.037
353
c RBN010 Robinow-Like Syndrome 10 0.037
354
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 8 0.037