Search results for "macrocephaly"

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

426 hits were found for 'macrocephaly'

# Family MCID Name MIFTS Score
1
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 30 4.645
2
MMS001 Momo Syndrome 22 4.057
3
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 23 4.007
4
MCR096 Macrocephaly/autism Syndrome 18 4.007
5
PRT093 Proteus Syndrome, Somatic 50 3.297
6
MCR168 Macrocephaly - Spastic Paraplegia - Dysmorphism 12 2.869
7
MCR221 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 10 2.855
8
MCR031 Macrocephaly, Benign Familial 8 2.855
9
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 20 2.841
10
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 3 2.841
11
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 56 2.387
12
DND011 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia and Brachytelephalangy 3 2.362
13
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3 2.362
14
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 5 2.347
15
ZRS001 Zori Stalker Williams Syndrome 12 2.331
16
INT251 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome 6 2.331
17
BGT001 Bagatelle Cassidy Syndrome 4 2.292
18
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 12 1.744
19
MCR174 Macrocephaly - Short Stature - Paraplegia 12 1.718
20
XLN139 X-Linked Intellectual Disability - Macrocephaly - Macroorchidism 15 1.704
21
FCL035 Facial Dysmorphism - Macrocephaly - Myopia - Dandy-Walker Malformation 12 1.704
22
DND008 Dandy-Walker Malformation Associated with Macrocephaly, Facial Anomalies, Developmental Delay, and Brain Stem Dysgenesis 4 1.704
23
MCR268 Macrocephaly-Developmental Delay Syndrome 5 1.688
24
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4 1.688
25
MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 2 1.688
26
KNS002 Kniest Like Dysplasia Lethal 16 1.670
27
FML273 Familial Scaphocephaly Syndrome, Mcgillivray Type 12 1.670
28
MLT096 Multiple Epiphyseal Dysplasia, Al-Gazali Type 12 1.670
29
OST102 Osteoporosis - Macrocephaly - Blindness - Joint Hyperlaxity 10 1.670
30
OVR095 Overgrowth - Macrocephaly - Facial Dysmorphism 5 1.670
31
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 5 1.670
32
MCR198 Macrocephaly - Immune Deficiency - Anemia 4 1.670
33
XLN153 X-Linked Recessive Intellectual Disability - Macrocephaly - Ciliary Dysfunction 4 1.670
34
CLR029 Clark-Baraitser Syndrome 11 1.649
35
c FCS008 Fucosidosis Type 1 6 1.621
36
CTS011 Cutis Marmorata Telangiectatica Congenita 39 0.175
37
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 38 0.151
38
P MNT147 Mental Retardation 46 0.135
39
P OBS005 Obesity 94 0.101
40
P TRC086 Trichohepatoenteric Syndrome 1 39 0.101
41
NRN002 Neuronitis 36 0.101
42
P HYD006 Hydrocephalus 56 0.089
43
LRN003 Learning Disability 53 0.083
44
SCH016 Schimke Immunoosseous Dysplasia 46 0.083
45
TTR016 Tetra-Amelia Syndrome 36 0.083
46
P CWD001 Cowden Disease 69 0.075
47
P THN009 Thanatophoric Dysplasia, Type I 62 0.075
48
P MLT007 Multiple Epiphyseal Dysplasia 57 0.075
49
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 50 0.075
50
c MLT024 Multiple Endocrine Neoplasia Iia 49 0.075
51
OPS002 Opsismodysplasia 34 0.075
52
P HYP265 Hypotonia 34 0.075
53
P INT105 Intellectual Disability Multi-Gene Panels 15 0.075
54
P CRD013 Cardiofaciocutaneous Syndrome 65 0.068
55
CST001 Costello Syndrome 59 0.068
56
MTC007 Mitochondrial Complex I Deficiency 57 0.068
57
MNK003 Muenke Syndrome 56 0.068
58
BSL036 Basal Cell Nevus Syndrome 55 0.068
59
GRG001 Greig Cephalopolysyndactyly Syndrome 49 0.068
60
P MCR010 Microcephaly 49 0.068
61
P DND001 Dandy-Walker Syndrome 48 0.068
62
P STS008 Sotos Syndrome 1 46 0.068
63
P SCL018 Scoliosis 45 0.068
64
P SYN001 Syndactyly 43 0.068
65
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 40 0.068
66
HYP622 Hypertrichotic Osteochondrodysplasia 39 0.068
67
SPS057 Spasticity 32 0.068
68
DSM002 Desmosterolosis 30 0.068
69
OST022 Osteopathia Striata with Cranial Sclerosis 29 0.068
70
WTS001 Watson Syndrome 23 0.068
71
CHR225 Chromosome 1q21.1 Duplication Syndrome 20 0.068
72
P FRG001 Fragile X Syndrome 66 0.058
73
P HLP001 Holoprosencephaly 65 0.058
74
HYP042 Hypochondroplasia 61 0.058
75
CMP005 Campomelic Dysplasia 59 0.058
76
P CNV004 Canavan Disease 59 0.058
77
P SZR006 Seizure Disorder 56 0.058
78
P ATS007 Autism Spectrum Disorder 56 0.058
79
ACR008 Acrocallosal Syndrome 55 0.058
80
JCB001 Jacobsen Syndrome 53 0.058
81
c MCP009 Mucopolysaccharidosis Ii 51 0.058
82
ART001 Arterial Tortuosity Syndrome 48 0.058
83
PGT004 Paget Disease, Juvenile 48 0.058
84
TRP014 Triploidy 45 0.058
85
c L2H001 L-2-Hydroxyglutaric Aciduria 45 0.058
86
CRB045 Cerebellar Hypoplasia 44 0.058
87
c MNN025 Mannosidosis, Alpha-, Types I and Ii 41 0.058
88
P MYP006 Myopia 41 0.058
89
c OPT055 Optic Atrophy Plus Syndrome 40 0.058
90
PRP016 Paraplegia 40 0.058
91
PHL006 Phelan-Mcdermid Syndrome 39 0.058
92
GLT021 Glutaricaciduria, Type I 37 0.058
93
INC001 Incontinentia Pigmenti Achromians 36 0.058
94
DNN002 Donnai-Barrow Syndrome 36 0.058
95
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 35 0.058
96
P CRN013 Craniodiaphyseal Dysplasia 35 0.058
97
PRL032 Perlman Syndrome 34 0.058
98
CRB009 Cerebritis 33 0.058
99
c RBN009 Robinow Syndrome, Autosomal Recessive 32 0.058
100
HYP264 Hypertonia 30 0.058
101
SCH030 Schneckenbecken Dysplasia 28 0.058
102
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 27 0.058
103
c RBN011 Robinow Syndrome, Autosomal Dominant 24 0.058
104
ACR002 Acrocapitofemoral Dysplasia 19 0.058
105
ATK001 Atkin Syndrome 16 0.058
106
c AMY091 Amyotrophic Lateral Sclerosis 1 82 0.048
107
P OST005 Osteogenesis Imperfecta 77 0.048
108
P TYS001 Tay-Sachs Disease 73 0.048
109
P OST002 Osteoporosis 71 0.048
110
P CLD001 Cleidocranial Dysplasia 70 0.048
111
ACH004 Achondroplasia 68 0.048
112
TTR001 Tetralogy of Fallot 67 0.048
113
P OST001 Osteopetrosis 65 0.048
114
MCK007 Muckle-Wells Syndrome 62 0.048
115
WLK001 Walker-Warburg Syndrome 59 0.048
116
P SMP003 Simpson-Golabi-Behmel Syndrome 58 0.048
117
P FCL005 Focal Segmental Glomerulosclerosis 58 0.048
118
MLT135 Multiple Sulfatase Deficiency 57 0.048
119
CRY002 Cryptorchidism 57 0.048
120
STT001 Status Epilepticus 56 0.048
121
P HRP009 Herpes Simplex Encephalitis 56 0.048
122
CNC002 Cinca Syndrome 55 0.048
123
c MCP004 Mucopolysaccharidosis Iv 54 0.048
124
DFC004 Deficiency Anemia 54 0.048
125
DST005 Diastrophic Dysplasia 53 0.048
126
PLY056 Polyposis, Juvenile Intestinal 53 0.048
127
MYC002 Mycobacterium Avium Complex Disease 51 0.048
128
P HYP080 Hypogonadism 51 0.048
129
ALP008 Alopecia 51 0.048
130
BRJ001 Borjeson-Forssman-Lehmann Syndrome 50 0.048
131
c MCP037 Mucopolysaccharidosis is 50 0.048
132
P CTS001 Cutis Laxa 50 0.048
133
HMM003 Hemimegalencephaly 49 0.048
134
MLB001 Mulibrey Nanism 49 0.048
135
ARC007 Arachnoid Cysts 49 0.048
136
P WVR001 Weaver Syndrome 49 0.048
137
P BRC006 Brachydactyly 49 0.048
138
P PLY006 Polydactyly 48 0.048
139
P TRM003 Tremor 48 0.048
140
CCH002 Coach Syndrome 48 0.048
141
c JVN016 Juvenile Hyaline Fibromatosis 47 0.048
142
c THN010 Thanatophoric Dysplasia, Type Ii 46 0.048
143
THR013 Thoracic Outlet Syndrome 45 0.048
144
LGS001 Legius Syndrome 44 0.048
145
HMP005 Hemiplegia 44 0.048
146
P EPL002 Epilepsy Syndrome 44 0.048
147
P ACH011 Achondrogenesis 44 0.048
148
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 43 0.048
149
CRN014 Cronkhite-Canada Syndrome 43 0.048
150
KLP010 Klippel-Trenaunay-Weber Syndrome 43 0.048
151
P GGN002 Gigantism 43 0.048
152
c BRC082 Brachydactyly, Type E 42 0.048
153
NNT017 Neonatal Adrenoleukodystrophy 42 0.048
154
LJN003 Lujan-Fryns Syndrome 41 0.048
155
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 40 0.048
156
ARC002 Arachnoiditis 39 0.048
157
c ACH033 Achondrogenesis, Type Ia 38 0.048
158
ATY005 Atypical Teratoid Rhabdoid Tumor 37 0.048
159
c OST137 Osteopetrosis, Autosomal Recessive 4 36 0.048
160
c SPN121 Spondylocostal Dysostosis 1 34 0.048
161
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 34 0.048
162
PSL001 Pasli Disease 30 0.048
163
c ACH035 Achondrogenesis Ib 29 0.048
164
MGL031 Megalencephaly - Polymicrogyria - Postaxial Polydactyly - Hydrocephalus 29 0.048
165
ENC010 Encephalocraniocutaneous Lipomatosis 29 0.048
166
NNT023 Neonatal Progeroid Syndrome 28 0.048
167
15Q001 15q13.3 Microdeletion 28 0.048
168
c SPN124 Spondylocostal Dysostosis 4 28 0.048
169
c OST131 Osteopetrosis, Autosomal Dominant 2 27 0.048
170
RTS001 Ritscher-Schinzel Syndrome 27 0.048
171
c OST126 Osteopetrosis, Autosomal Recessive 1 27 0.048
172
16P002 16p11.2 Deletion Syndrome 26 0.048
173
IMM013 Immunodeficiency, Centromere Instability and Facial Anomalies Syndrome 26 0.048
174
2Q3002 2q37 Microdeletion Syndrome 26 0.048
175
TMT003 Temtamy Syndrome 25 0.048
176
MGL006 Megalocornea Mental Retardation Syndrome 25 0.048
177
P PRT063 Proteus-Like Syndrome 25 0.048
178
PRM056 Primrose Syndrome 24 0.048
179
CHR224 Chromosome 1q Duplication 24 0.048
180
3Q2001 3q29 Deletion Syndrome 23 0.048
181
WSM002 Waisman Syndrome 23 0.048
182
CHR209 Chromosome 17p Duplication 23 0.048
183
DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 22 0.048
184
SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 22 0.048
185
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 21 0.048
186
DYS045 Dysosteosclerosis 21 0.048
187
FNT003 Fountain Syndrome 21 0.048
188
OPT054 Opitz-Kaveggia Syndrome 20 0.048
189
OCL039 Oculoectodermal Syndrome 20 0.048
190
c STM012 Stomach Cancer, Familial 20 0.048
191
LMB011 Limb Deficiencies Distal with Micrognathia 19 0.048
192
CRN083 Craniofacial Dyssynostosis 19 0.048
193
c BNG076 Benign Exophthalmos Syndrome 19 0.048
194
ISL062 Isolated Plagiocephaly 18 0.048
195
SMM003 Summitt Syndrome 18 0.048
196
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 17 0.048
197
SYN057 Syndromic Intellectual Disability 17 0.048
198
CHR252 Chromosome 5p Duplication 17 0.048
199
CRN087 Craniomicromelic Syndrome 17 0.048
200
SGM007 Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus 17 0.048
201
CHR246 Chromosome 3q29 Microduplication Syndrome 16 0.048
202
PYK001 Pyknoachondrogenesis 16 0.048
203
NSD003 Nasodigitoacoustic Syndrome 16 0.048
204
HYD023 Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 16 0.048
205
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 16 0.048
206
MSC026 Muscular Dystrophy White Matter Spongiosis 16 0.048
207
BRC024 Brachydactyly Elbow Wrist Dysplasia 16 0.048
208
ANG062 Angioosteohypertrophic Syndrome 15 0.048
209
PSD008 Pseudopapilledema 15 0.048
210
6Q1001 6q16 Deletion Syndrome 15 0.048
211
XLN177 X-Linked Intellectual Disability, Cabezas Type 15 0.048
212
DST055 Distal 22q11.2 Microduplication Syndrome 15 0.048
213
c MNS011 Monosomy 9q22.3 15 0.048
214
15Q004 15q11q13 Microduplication Syndrome 15 0.048
215
LTH005 Lethal Chondrodysplasia Moerman Type 15 0.048
216
OST047 Osteopenia and Sparse Hair 15 0.048
217
MTP009 Metaphyseal Dysostosis Mental Retardation Conductive Deafness 15 0.048
218
RDL024 Radio-Ulnar Synostosis - Intellectual Disability - Hypotonia 15 0.048
219
XLN129 X-Linked Intellectual Disability, Armfield Type 15 0.048
220
10Q001 10q22.3q23.3 Microdeletion Syndrome 14 0.048
221
c SVR048 Severe Canavan Disease 14 0.048
222
3Q1001 3q13 Microdeletion Syndrome 14 0.048
223
c SYN067 Syndromic X-Linked Intellectual Disability Due to Jarid1c Mutation 14 0.048
224
SPN113 Spinocerebellar Ataxia with Dysmorphism 13 0.048
225
CRB071 Cerebral Gigantism Jaw Cysts 13 0.048
226
ECT071 Ectodermal Dysplasia - Intellectual Disability - Central Nervous System Malformation 13 0.048
227
AGN014 Agenesis of the Corpus Callosum - Intellectual Disability - Coloboma - Micrognathia 13 0.048
228
THN008 Thin Ribs - Tubular Bones - Dysmorphism 12 0.048
229
c RBN010 Robinow-Like Syndrome 12 0.048
230
TRP011 Triopia 12 0.048
231
OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 12 0.048
232
P MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 12 0.048
233
SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 11 0.048
234
EPM003 Epimetaphyseal Skeletal Dysplasia 11 0.048
235
GNG024 Gingival Fibromatosis - Facial Dysmorphism 9 0.048
236
XLN178 X-Linked Epilepsy - Learning Disabilities - Behavior Disorders 8 0.048
237
P ATX030 Ataxia-Telangiectasia 76 0.034
238
P RTN024 Retinoblastoma 75 0.034
239
AND015 Androgen Insensitivity 69 0.034
240
P PRM002 Primary Hyperoxaluria 68 0.034
241
c FNC027 Fanconi Anemia, Complementation Group a 68 0.034
242
P NRB001 Neuroblastoma 68 0.034
243
P ALX003 Alexander Disease 66 0.034
244
P DMN001 Diamond-Blackfan Anemia 66 0.034
245
P ANG001 Angelman Syndrome 66 0.034
246
c NRF018 Neurofibromatosis, Type 1 65 0.034
247
PTR006 Peters Anomaly 65 0.034
248
MNK001 Menkes Disease 65 0.034
249
SKN016 Skin Disease 64 0.034
250
c MCP003 Mucopolysaccharidosis Vii 64 0.034
251
P PRD006 Prader-Willi Syndrome 64 0.034
252
P PRM019 Premature Ovarian Failure 63 0.034
253
P RSP003 Respiratory Failure 62 0.034
254
PRT036 Peritonitis 61 0.034
255
P NJM001 Nijmegen Breakage Syndrome 61 0.034
256
CHR029 Choroid Plexus Papilloma 61 0.034
257
ATS001 Autistic Disorder 61 0.034
258
P HMN010 Hemangioma 60 0.034
259
c MCP024 Mucopolysaccharidosis Type Vi 60 0.034
260
P RCK004 Rickets 58 0.034
261
c BSL007 Basal Cell Carcinoma 56 0.034
262
P ANT006 Antiphospholipid Syndrome 55 0.034
263
P SCH018 Schizencephaly 55 0.034
264
ACN002 Acanthosis Nigricans 55 0.034
265
VCT001 Vacterl Association 55 0.034
266
P DYS154 Dystonia 55 0.034
267
P HYP040 Hypospadias 54 0.034
268
P AND016 Andersen Syndrome 54 0.034
269
CLB001 Coloboma 54 0.034
270
BRN022 Bronchiectasis 54 0.034
271
c JBR020 Joubert Syndrome 1 54 0.034
272
HYP056 Hypoglycemia 53 0.034
273
P CFF001 Coffin-Siris Syndrome 53 0.034
274
GNG013 Gingivitis 52 0.034
275
OLG003 Oligohydramnios 51 0.034
276
DBF001 D-Bifunctional Protein Deficiency 51 0.034
277
c SCN006 Secondary Syphilis 51 0.034
278
NRC020 Neuroectodermal Tumor 51 0.034
279
LKN001 Leukoencephalopathy with Vanishing White Matter 51 0.034
280
P AXN010 Axenfeld-Rieger Syndrome, Type 3 50 0.034
281
P TRT010 Teratoma 50 0.034
282
P CRN012 Craniometaphyseal Dysplasia 49 0.034
283
TTH002 Tooth Agenesis 49 0.034
284
c NNN013 Noonan Syndrome 6 49 0.034
285
END020 Endocardial Fibroelastosis 49 0.034
286
c BRD010 Bardet-Biedl Syndrome 1 48 0.034
287
ANK001 Ankylosis 48 0.034
288
DWR001 Dwarfism 48 0.034
289
URT001 Urethritis 48 0.034
290
P HYP060 Hyperinsulinism 47 0.034
291
P BLN003 Blindness 47 0.034
292
P LFT003 Left Ventricular Noncompaction 46 0.034
293
NRF008 Neurofibromatosis-Noonan Syndrome 46 0.034
294
PLY012 Polyhydramnios 46 0.034
295
P LYM025 Lymphedema 45 0.034
296
P LKD001 Leukodystrophy 45 0.034
297
P GLT023 Glutaric Acidemia Iic 45 0.034
298
OST011 Osteomalacia 45 0.034
299
P D2H001 D-2-Hydroxyglutaric Aciduria 45 0.034
300
IMP002 Imperforate Anus 44 0.034
301
GNG012 Gingival Overgrowth 44 0.034
302
TRC040 Tracheoesophageal Fistula 44 0.034
303
P PLG001 Pelger-Huet Anomaly 43 0.034
304
SYN005 Synostosis 43 0.034
305
INT075 Intracranial Hypertension 43 0.034
306
c CNT035 Central Nervous System Disease 42 0.034
307
P CRB088 Cerebral Atrophy 40 0.034
308
SGT001 Sagittal Sinus Thrombosis 40 0.034
309
IMG001 Image Syndrome 39 0.034
310
AMB002 Amblyopia 39 0.034
311
P PTS002 Ptosis 39 0.034
312
MSS001 Masa Syndrome 39 0.034
313
RVL002 Ruvalcaba Syndrome 39 0.034
314
GRN039 Greenberg Skeletal Dysplasia 38 0.034
315
c PNT010 Pontocerebellar Hypoplasia Type 1 38 0.034
316
P PNT019 Pontocerebellar Hypoplasia 38 0.034
317
c MCP012 Mucopolysaccharidosis Ih 37 0.034
318
RNL025 Renal Hypoplasia 36 0.034
319
MYT022 Myotubular Myopathy, X-Linked 36 0.034
320
ANR040 Aneurysm 35 0.034
321
AST006 Astigmatism 35 0.034
322
FMR004 Fumarase Deficiency 35 0.034
323
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 35 0.034
324
PTN006 Pten Hamartoma Tumor Syndrome 35 0.034
325
CRB002 Cerebral Primitive Neuroectodermal Tumor 34 0.034
326
c NNN011 Noonan Syndrome 4 34 0.034
327
HM3001 Hemi 3 Syndrome 33 0.034
328
TTH001 Tooth Ankylosis 33 0.034
329
HYD001 Hydranencephaly 33 0.034
330
CLB026 Colobomatous Microphthalmia 33 0.034
331
ANG037 Angiomatosis 33 0.034
332
AND001 Anodontia 32 0.034
333
IPX001 Ipex Syndrome 32 0.034
334
FCT013 Factor V Leiden Thrombophilia 31 0.034
335
P PLY024 Polymicrogyria 31 0.034
336
c LRS002 Larsen-Like Syndrome 31 0.034
337
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 31 0.034
338
SKL017 Skeletal Dysplasias 30 0.034
339
TRS007 Trismus-Pseudocamptodactyly Syndrome 30 0.034
340
ENP001 Enophthalmos 29 0.034
341
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 29 0.034
342
P ATX010 Ataxia Neuropathy Spectrum 29 0.034
343
NNN014 Noonan-Like Syndrome with Loose Anagen Hair 29 0.034
344
SHK001 Shaken Baby Syndrome 29 0.034
345
ANN001 Anonychia Congenita 28 0.034
346
c CWD006 Cowden Syndrome 1 28 0.034
347
PLS030 Plasminogen Deficiency, Type I 28 0.034
348
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 28 0.034
349
c JBR004 Joubert Syndrome 2 27 0.034
350
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 27 0.034
351
c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 27 0.034
352
BDY001 Body Dysmorphic Disorder 26 0.034
353
PLL008 Pallister-Killian Syndrome 25 0.034
354
c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 25 0.034
355
12Q002 12q14 Microdeletion Syndrome 25 0.034
356
c BRT034 Bartter Syndrome, Type 2 24 0.034
357
P VCT008 Vacterl with Hydrocephalus 22 0.034
358
c MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 22 0.034
359
ANR019 Anorectal Atresia 22 0.034
360
c KNN007 Kenny-Caffey Syndrome, Type 2 22 0.034
361
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 21 0.034
362
c HLP011 Holoprosencephaly-7 21 0.034
363
MLY006 Molybdenum Cofactor Deficiency a 21 0.034
364
MNT231 Mental Retardation, X-Linked Syndromic, Nascimento-Type 21 0.034
365
c OST127 Osteogenesis Imperfecta, Type X 21 0.034
366
ATR055 Atrial Septal Aneurysm 20 0.034
367
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 20 0.034
368
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 20 0.034
369
c MNT109 Mental Retardation, X-Linked, Syndromic 15 19 0.034
370
c CNG187 Congenital Disorder of Glycosylation, Type Iid 19 0.034
371
CRN049 Craniolenticulosutural Dysplasia 19 0.034
372
c CNG191 Congenital Disorder of Glycosylation, Type Iia 19 0.034
373
c CRN110 Cranioectodermal Dysplasia 3 19 0.034
374
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 19 0.034
375
c MLG049 Malignant Syringoma 18 0.034
376
FGS002 Fg Syndrome 2 18 0.034
377
c PRX059 Peroxisome Biogenesis Disorder 1a 17 0.034
378
c NNN021 Noonan Syndrome 8 17 0.034
379
AND005 Androgen Insensitivity Syndrome, Mild 17 0.034
380
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 17 0.034
381
c ADM007 Adams-Oliver Syndrome 2 17 0.034
382
MLY005 Molybdenum Cofactor Deficiency B 17 0.034
383
FLS001 Fils Syndrome 17 0.034
384
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 16 0.034
385
HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 16 0.034
386
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 16 0.034
387
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 16 0.034
388
c CRN221 Craniosynostosis 4 15 0.034
389
BBB001 Bobble-Head Doll Syndrome 15 0.034
390
CNG051 Congenital Alopecia X-Linked 15 0.034
391
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 15 0.034
392
CLP002 Colpocephaly 15 0.034
393
c DSB005 Desbuquois Dysplasia 2 15 0.034
394
c LSS025 Lissencephaly 5 15 0.034
395
MNT069 Mental Retardation with Language Impairment and Autistic Features 15 0.034
396
SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 15 0.034
397
c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 15 0.034
398
c EHL043 Ehlers-Danlos Syndrome, Progeroid Type, 1 14 0.034
399
P ARC011 Auriculocondylar Syndrome 2 14 0.034
400
SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 14 0.034
401
c BRT028 Brittle Cornea Syndrome 1 14 0.034
402
MNT139 Mental Retardation, X-Linked Syndromic, Turner Type 14 0.034
403
SHR023 Short Stature Syndrome, Brussels Type 14 0.034
404
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 14 0.034
405
c ARC016 Auriculocondylar Syndrome 1 14 0.034
406
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 14 0.034
407
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 14 0.034
408
c OST106 Osteopetrosis, Autosomal Recessive 8 13 0.034
409
CMM015 Commissural Facial Cleft 13 0.034
410
EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 13 0.034
411
c SCL042 Sclerosteosis 2 13 0.034
412
HYP312 Hypophosphatemic Rickets and Hyperparathyroidism 13 0.034
413
c STS007 Sotos Syndrome 2 13 0.034
414
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 13 0.034
415
c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 12 0.034
416
CHR366 Chromosome 5p13 Duplication Syndrome 12 0.034
417
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 11 0.034
418
HYP277 Hypothalamic Hamartomas, Somatic 11 0.034
419
PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 11 0.034
420
CHR383 Chromosome 1p32-P31 Deletion Syndrome 10 0.034
421
ECT022 Ectodermal Dysplasia with Natal Teeth Turnpenny Type 10 0.034
422
1Q2002 1q21.1 Deletion 10 0.034
423
GNG014 Gingival Fibromatosis with Distinctive Facies 10 0.034
424
ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 9 0.034
425
CHR360 Chromosome 4q32.1-Q32.2 Triplication Syndrome 8 0.034
426
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 8 0.034