Search results for "macrocephaly"

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

558 hits were found for 'macrocephaly'

# Family MCID Name MIFTS Score
1
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 33 4.605
2
MCR096 Macrocephaly/autism Syndrome 22 4.305
3
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 33 4.287
4
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 57 3.671
5
MMS001 Momo Syndrome 22 3.297
6
PRT093 Proteus Syndrome, Somatic 52 3.267
7
MCR221 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 14 3.267
8
MCR168 Macrocephaly - Spastic Paraplegia - Dysmorphism 11 2.829
9
MCR031 Macrocephaly, Benign Familial 9 2.829
10
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 25 2.816
11
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 3 2.816
12
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 14 2.382
13
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 10 2.350
14
DND011 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia and Brachytelephalangy 3 2.338
15
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3 2.338
16
MNT139 Mental Retardation, X-Linked Syndromic, Turner Type 18 2.310
17
INT251 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome 6 2.310
18
ZRS001 Zori Stalker Williams Syndrome 11 2.294
19
BGT001 Bagatelle Cassidy Syndrome 4 2.274
20
MCR174 Macrocephaly - Short Stature - Paraplegia 12 1.697
21
XLN139 X-Linked Intellectual Disability - Macrocephaly - Macroorchidism 16 1.684
22
DND008 Dandy-Walker Malformation Associated with Macrocephaly, Facial Anomalies, Developmental Delay, and Brain Stem Dysgenesis 4 1.684
23
TNR001 Tenorio Syndrome 21 1.670
24
KNS002 Kniest Like Dysplasia Lethal 16 1.670
25
FCL035 Facial Dysmorphism - Macrocephaly - Myopia - Dandy-Walker Malformation 11 1.670
26
MCR268 Macrocephaly-Developmental Delay Syndrome 5 1.670
27
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4 1.670
28
MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 2 1.670
29
OST102 Osteoporosis - Macrocephaly - Blindness - Joint Hyperlaxity 10 1.653
30
OVR095 Overgrowth - Macrocephaly - Facial Dysmorphism 6 1.653
31
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 5 1.653
32
MCR198 Macrocephaly - Immune Deficiency - Anemia 4 1.653
33
XLN153 X-Linked Recessive Intellectual Disability - Macrocephaly - Ciliary Dysfunction 4 1.653
34
FML273 Familial Scaphocephaly Syndrome, Mcgillivray Type 12 1.634
35
MLT096 Multiple Epiphyseal Dysplasia, Al-Gazali Type 12 1.634
36
CLR029 Clark-Baraitser Syndrome 11 1.634
37
c FCS008 Fucosidosis Type 1 8 1.608
38
CTS011 Cutis Marmorata Telangiectatica Congenita 32 0.159
39
NRN002 Neuronitis 40 0.115
40
P OBS005 Obesity 89 0.102
41
P HRM001 Hermansky-Pudlak Syndrome 62 0.097
42
c PNC108 Pancreatitis, Hereditary 59 0.097
43
P HMP002 Hemophagocytic Lymphohistiocytosis 59 0.097
44
HNT002 Hantavirus Pulmonary Syndrome 52 0.097
45
P TRC086 Trichohepatoenteric Syndrome 1 42 0.097
46
P INT063 Intellectual Disability 36 0.092
47
P SHR029 Short Syndrome 49 0.087
48
P HYD006 Hydrocephalus 54 0.081
49
MGL013 Megalencephaly 44 0.081
50
P THN009 Thanatophoric Dysplasia, Type I 61 0.075
51
P ATS007 Autism Spectrum Disorder 60 0.075
52
SCH016 Schimke Immunoosseous Dysplasia 51 0.075
53
LRN003 Learning Disability 47 0.075
54
TTR016 Tetra-Amelia Syndrome 38 0.075
55
OPS002 Opsismodysplasia 37 0.075
56
P HYP265 Hypotonia 35 0.075
57
MTC007 Mitochondrial Complex I Deficiency 57 0.069
58
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 56 0.069
59
GRG001 Greig Cephalopolysyndactyly Syndrome 55 0.069
60
P MLT007 Multiple Epiphyseal Dysplasia 53 0.069
61
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 50 0.069
62
P SYN001 Syndactyly 49 0.069
63
CRB009 Cerebritis 37 0.069
64
OST022 Osteopathia Striata with Cranial Sclerosis 34 0.069
65
P CRD013 Cardiofaciocutaneous Syndrome 65 0.061
66
BSL036 Basal Cell Nevus Syndrome 64 0.061
67
P CWD001 Cowden Disease 64 0.061
68
ACR008 Acrocallosal Syndrome 58 0.061
69
MNK003 Muenke Syndrome 54 0.061
70
P STS008 Sotos Syndrome 1 50 0.061
71
P MCR010 Microcephaly 49 0.061
72
c L2H001 L-2-Hydroxyglutaric Aciduria 46 0.061
73
P SCL018 Scoliosis 44 0.061
74
GLT021 Glutaricaciduria, Type I 42 0.061
75
c CWD006 Cowden Syndrome 1 39 0.061
76
DSM002 Desmosterolosis 33 0.061
77
HYP622 Hypertrichotic Osteochondrodysplasia 32 0.061
78
SPS057 Spasticity 30 0.061
79
DND005 Dandy-Walker Complex 30 0.061
80
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 25 0.061
81
WTS001 Watson Syndrome 25 0.061
82
CHR225 Chromosome 1q21.1 Duplication Syndrome 20 0.061
83
ANR002 Aniridia 72 0.053
84
P FRG001 Fragile X Syndrome 66 0.053
85
CST001 Costello Syndrome 64 0.053
86
CMP005 Campomelic Dysplasia 63 0.053
87
c MCP009 Mucopolysaccharidosis Ii 63 0.053
88
P HLP001 Holoprosencephaly 62 0.053
89
ART001 Arterial Tortuosity Syndrome 59 0.053
90
HYP042 Hypochondroplasia 56 0.053
91
P CNV004 Canavan Disease 56 0.053
92
ACN002 Acanthosis Nigricans 53 0.053
93
c MNN025 Mannosidosis, Alpha-, Types I and Ii 53 0.053
94
c 3MT016 3-Methylglutaconic Aciduria, Type Iii 50 0.053
95
JCB001 Jacobsen Syndrome 49 0.053
96
P SZR006 Seizure Disorder 48 0.053
97
P BRC006 Brachydactyly 48 0.053
98
LGS001 Legius Syndrome 47 0.053
99
THR013 Thoracic Outlet Syndrome 47 0.053
100
URB001 Urbach-Wiethe Disease 46 0.053
101
P MYP006 Myopia 46 0.053
102
HMH002 Hemihypertrophy 45 0.053
103
c OPT055 Optic Atrophy Plus Syndrome 43 0.053
104
PHL006 Phelan-Mcdermid Syndrome 42 0.053
105
P CRN013 Craniodiaphyseal Dysplasia 41 0.053
106
PGT008 Paget Disease of Bone 5, Juvenile-Onset 41 0.053
107
PRP016 Paraplegia 41 0.053
108
TRP014 Triploidy 40 0.053
109
DNN002 Donnai-Barrow Syndrome 39 0.053
110
c RBN009 Robinow Syndrome, Autosomal Recessive 39 0.053
111
PRL032 Perlman Syndrome 38 0.053
112
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 38 0.053
113
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 37 0.053
114
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 36 0.053
115
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 34 0.053
116
PTN006 Pten Hamartoma Tumor Syndrome 34 0.053
117
SCH030 Schneckenbecken Dysplasia 34 0.053
118
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 34 0.053
119
c OST126 Osteopetrosis, Autosomal Recessive 1 33 0.053
120
PRM056 Primrose Syndrome 32 0.053
121
P ATX010 Ataxia Neuropathy Spectrum 31 0.053
122
VSL002 Visual Epilepsy 31 0.053
123
OPT054 Opitz-Kaveggia Syndrome 30 0.053
124
HYP264 Hypertonia 30 0.053
125
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 26 0.053
126
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 25 0.053
127
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 25 0.053
128
ACR002 Acrocapitofemoral Dysplasia 23 0.053
129
EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 18 0.053
130
ATK001 Atkin Syndrome 15 0.053
131
c AMY091 Amyotrophic Lateral Sclerosis 1 83 0.043
132
P OST002 Osteoporosis 75 0.043
133
P TYS001 Tay-Sachs Disease 70 0.043
134
P OST005 Osteogenesis Imperfecta 70 0.043
135
c MCP037 Mucopolysaccharidosis is 68 0.043
136
TTR001 Tetralogy of Fallot 68 0.043
137
P CLD001 Cleidocranial Dysplasia 66 0.043
138
P FCL005 Focal Segmental Glomerulosclerosis 65 0.043
139
ACH004 Achondroplasia 65 0.043
140
P OST001 Osteopetrosis 63 0.043
141
P ALX003 Alexander Disease 61 0.043
142
c MCP004 Mucopolysaccharidosis Iv 58 0.043
143
MCK007 Muckle-Wells Syndrome 58 0.043
144
WLK001 Walker-Warburg Syndrome 57 0.043
145
DST005 Diastrophic Dysplasia 56 0.043
146
MLT135 Multiple Sulfatase Deficiency 55 0.043
147
PLY056 Polyposis, Juvenile Intestinal 55 0.043
148
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 55 0.043
149
P EPL002 Epilepsy Syndrome 54 0.043
150
KLP010 Klippel-Trenaunay-Weber Syndrome 53 0.043
151
BRJ001 Borjeson-Forssman-Lehmann Syndrome 53 0.043
152
CNC002 Cinca Syndrome 53 0.043
153
DFC004 Deficiency Anemia 52 0.043
154
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 51 0.043
155
STT001 Status Epilepticus 51 0.043
156
P CHL002 Childhood Absence Epilepsy 51 0.043
157
P CTS001 Cutis Laxa 51 0.043
158
P WVR001 Weaver Syndrome 51 0.043
159
P PLY006 Polydactyly 49 0.043
160
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 48 0.043
161
P LYM025 Lymphedema 48 0.043
162
HYP080 Hypogonadism 47 0.043
163
MLB001 Mulibrey Nanism 47 0.043
164
ALP008 Alopecia 47 0.043
165
c ACH033 Achondrogenesis, Type Ia 47 0.043
166
c JVN016 Juvenile Hyaline Fibromatosis 47 0.043
167
MYC002 Mycobacterium Avium Complex Disease 46 0.043
168
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 46 0.043
169
c THN010 Thanatophoric Dysplasia, Type Ii 45 0.043
170
c BRC082 Brachydactyly, Type E 44 0.043
171
c ACH035 Achondrogenesis Ib 44 0.043
172
INC001 Incontinentia Pigmenti Achromians 43 0.043
173
ARC002 Arachnoiditis 43 0.043
174
P TRM003 Tremor 43 0.043
175
HMP005 Hemiplegia 43 0.043
176
P ACH011 Achondrogenesis 42 0.043
177
NNT017 Neonatal Adrenoleukodystrophy 42 0.043
178
P ENC018 Encephalopathy 42 0.043
179
ARC007 Arachnoid Cysts 39 0.043
180
P INT191 Intestinal Lymphangiectasia 39 0.043
181
HMM003 Hemimegalencephaly 39 0.043
182
c SPN081 Spondylocostal Dysostosis, Autosomal Recessive 38 0.043
183
IMM013 Immunodeficiency, Centromere Instability and Facial Anomalies Syndrome 37 0.043
184
OBS004 Obstructive Hydrocephalus 35 0.043
185
ENT001 Enterocele 34 0.043
186
c ATS082 Autosomal Dominant Robinow Syndrome 33 0.043
187
RTS001 Ritscher-Schinzel Syndrome 33 0.043
188
NNN014 Noonan-Like Syndrome with Loose Anagen Hair 33 0.043
189
c ATS282 Autosomal Recessive Malignant Osteopetrosis 32 0.043
190
LJN003 Lujan-Fryns Syndrome 32 0.043
191
c MNT109 Mental Retardation, X-Linked, Syndromic 15 31 0.043
192
c CNG187 Congenital Disorder of Glycosylation, Type Iid 31 0.043
193
PSD008 Pseudopapilledema 31 0.043
194
P GGN002 Gigantism 28 0.043
195
WSM002 Waisman Syndrome 28 0.043
196
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 28 0.043
197
TMT003 Temtamy Syndrome 27 0.043
198
c CWD004 Cowden Syndrome 5 27 0.043
199
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 25 0.043
200
c CWD008 Cowden Syndrome 6 24 0.043
201
FGS002 Fg Syndrome 2 24 0.043
202
DYS045 Dysosteosclerosis 22 0.043
203
c FRN037 Frontal Encephalocele 22 0.043
204
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 22 0.043
205
CHR224 Chromosome 1q Duplication 21 0.043
206
SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 21 0.043
207
c OST106 Osteopetrosis, Autosomal Recessive 8 21 0.043
208
c BNG076 Benign Exophthalmos Syndrome 21 0.043
209
c RBN017 Robinow Syndrome, Autosomal Dominant 2 20 0.043
210
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 20 0.043
211
FNT003 Fountain Syndrome 20 0.043
212
MGL031 Megalencephaly - Polymicrogyria - Postaxial Polydactyly - Hydrocephalus 19 0.043
213
ISL062 Isolated Plagiocephaly 18 0.043
214
CHR252 Chromosome 5p Duplication 18 0.043
215
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 18 0.043
216
SMM003 Summitt Syndrome 18 0.043
217
CRN087 Craniomicromelic Syndrome 17 0.043
218
MSC026 Muscular Dystrophy White Matter Spongiosis 17 0.043
219
c MNS011 Monosomy 9q22.3 17 0.043
220
SGM007 Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus 17 0.043
221
PYK001 Pyknoachondrogenesis 17 0.043
222
MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 16 0.043
223
ANG062 Angioosteohypertrophic Syndrome 16 0.043
224
DST055 Distal 22q11.2 Microduplication Syndrome 16 0.043
225
6Q1001 6q16 Deletion Syndrome 15 0.043
226
LTH005 Lethal Chondrodysplasia Moerman Type 15 0.043
227
OST047 Osteopenia and Sparse Hair 15 0.043
228
10Q001 10q22.3q23.3 Microdeletion Syndrome 15 0.043
229
20P001 20p12.3 Microdeletion Syndrome 15 0.043
230
c SVR048 Severe Canavan Disease 15 0.043
231
LNR012 Linear Verrucous Nevus Syndrome 14 0.043
232
PRX069 Proximal 16p11.2 Microdeletion Syndrome 14 0.043
233
CRB071 Cerebral Gigantism Jaw Cysts 13 0.043
234
c RBN010 Robinow-Like Syndrome 13 0.043
235
THN008 Thin Ribs - Tubular Bones - Dysmorphism 13 0.043
236
TRP011 Triopia 12 0.043
237
OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 12 0.043
238
ISL030 Isolated Cerebellar Hypoplasia/agenesis 12 0.043
239
EPM003 Epimetaphyseal Skeletal Dysplasia 11 0.043
240
P HYP607 Hypercholesterolemia, Familial 79 0.031
241
P OST012 Osteoarthritis 79 0.031
242
ADR007 Adrenoleukodystrophy 76 0.031
243
P ATX030 Ataxia-Telangiectasia 76 0.031
244
c MCL042 Macular Degeneration, Age-Related, 1 74 0.031
245
P RTN024 Retinoblastoma 74 0.031
246
P NRB001 Neuroblastoma 73 0.031
247
c FNC027 Fanconi Anemia, Complementation Group a 71 0.031
248
CDS001 Cadasil 70 0.031
249
c MCP003 Mucopolysaccharidosis Vii 69 0.031
250
P CRN211 Coronary Artery Disease 68 0.031
251
P PRM019 Premature Ovarian Failure 66 0.031
252
P DMN001 Diamond-Blackfan Anemia 66 0.031
253
P ALG002 Alagille Syndrome 66 0.031
254
P ANG001 Angelman Syndrome 66 0.031
255
AND015 Androgen Insensitivity 65 0.031
256
MNK001 Menkes Disease 65 0.031
257
P PRM002 Primary Hyperoxaluria 64 0.031
258
PTR006 Peters Anomaly 63 0.031
259
ATS001 Autistic Disorder 62 0.031
260
P PRD006 Prader-Willi Syndrome 62 0.031
261
P NJM001 Nijmegen Breakage Syndrome 62 0.031
262
SKN016 Skin Disease 61 0.031
263
c MCP024 Mucopolysaccharidosis Type Vi 60 0.031
264
P AXN010 Axenfeld-Rieger Syndrome, Type 3 60 0.031
265
c JBR020 Joubert Syndrome 1 60 0.031
266
TNG002 Tangier Disease 60 0.031
267
c BRD010 Bardet-Biedl Syndrome 1 59 0.031
268
LKN001 Leukoencephalopathy with Vanishing White Matter 59 0.031
269
SHW002 Shwachman-Diamond Syndrome 58 0.031
270
PRT036 Peritonitis 58 0.031
271
P AND016 Andersen Syndrome 58 0.031
272
INC021 Incontinentia Pigmenti 58 0.031
273
P RSP003 Respiratory Failure 58 0.031
274
OTT002 Otitis Media 57 0.031
275
c BSL007 Basal Cell Carcinoma 57 0.031
276
HYP121 Hypoalphalipoproteinemia 57 0.031
277
P HYP117 Hypertriglyceridemia 56 0.031
278
IMG001 Image Syndrome 56 0.031
279
CLB001 Coloboma 55 0.031
280
P RCK004 Rickets 55 0.031
281
P ANT006 Antiphospholipid Syndrome 55 0.031
282
HJD001 Hajdu-Cheney Syndrome 55 0.031
283
P HMN010 Hemangioma 54 0.031
284
P CFF001 Coffin-Siris Syndrome 54 0.031
285
VND002 Van Der Woude Syndrome 54 0.031
286
EYD002 Eye Disease 54 0.031
287
P SCH018 Schizencephaly 54 0.031
288
P ACR001 Aicardi-Goutieres Syndrome 53 0.031
289
P DYS154 Dystonia 53 0.031
290
LPP001 Lipoprotein Lipase Deficiency 53 0.031
291
KRN002 Kearns-Sayre Syndrome 53 0.031
292
CCH002 Coach Syndrome 53 0.031
293
P CRN012 Craniometaphyseal Dysplasia 53 0.031
294
CHR029 Choroid Plexus Papilloma 52 0.031
295
CRY002 Cryptorchidism 52 0.031
296
NRM003 Norum Disease 52 0.031
297
c CNT035 Central Nervous System Disease 52 0.031
298
P SMP003 Simpson-Golabi-Behmel Syndrome 51 0.031
299
VCT001 Vacterl Association 51 0.031
300
MSS001 Masa Syndrome 51 0.031
301
ATH003 Atherosclerosis 50 0.031
302
P HYP040 Hypospadias 50 0.031
303
HYP056 Hypoglycemia 49 0.031
304
SNS001 Sensorineural Hearing Loss 49 0.031
305
BRN022 Bronchiectasis 49 0.031
306
P INT001 Intrahepatic Cholestasis 49 0.031
307
P GLM007 Glomerulonephritis 49 0.031
308
P GLT023 Glutaric Acidemia Iic 49 0.031
309
ART111 Artery Disease 48 0.031
310
TTH002 Tooth Agenesis 48 0.031
311
P HML033 Hemolytic Uremic Syndrome, Atypical 1 48 0.031
312
c SCN006 Secondary Syphilis 48 0.031
313
GNG013 Gingivitis 47 0.031
314
P PLG001 Pelger-Huet Anomaly 47 0.031
315
DBF001 D-Bifunctional Protein Deficiency 47 0.031
316
P D2H001 D-2-Hydroxyglutaric Aciduria 47 0.031
317
INT075 Intracranial Hypertension 46 0.031
318
CRN014 Cronkhite-Canada Syndrome 46 0.031
319
P SLL003 Salla Disease 46 0.031
320
NRF008 Neurofibromatosis-Noonan Syndrome 46 0.031
321
P FML035 Familial Hyperlipidemia 46 0.031
322
LPD008 Lipid Metabolism Disorder 45 0.031
323
IMP002 Imperforate Anus 45 0.031
324
NRF007 Neurofibroma 45 0.031
325
CHL068 Cholestasis 45 0.031
326
ATY005 Atypical Teratoid Rhabdoid Tumor 45 0.031
327
P LKD001 Leukodystrophy 45 0.031
328
ING001 Inguinal Hernia 44 0.031
329
P HYP060 Hyperinsulinism 44 0.031
330
P HYP090 Hyperalphalipoproteinemia 44 0.031
331
c CHL080 Cholestasis, Progressive Familial Intrahepatic 1 44 0.031
332
P HML001 Hemolytic-Uremic Syndrome 44 0.031
333
MCR037 Macroglossia 44 0.031
334
c CHL120 Cholestasis, Benign Recurrent Intrahepatic 44 0.031
335
P LFT003 Left Ventricular Noncompaction 44 0.031
336
FSH001 Fish-Eye Disease 44 0.031
337
FCT013 Factor V Leiden Thrombophilia 43 0.031
338
ANR040 Aneurysm 43 0.031
339
AND001 Anodontia 43 0.031
340
END020 Endocardial Fibroelastosis 43 0.031
341
LPP002 Lipoprotein Glomerulopathy 43 0.031
342
GRN039 Greenberg Skeletal Dysplasia 43 0.031
343
NRC020 Neuroectodermal Tumor 43 0.031
344
IPX001 Ipex Syndrome 43 0.031
345
ANK001 Ankylosis 43 0.031
346
GNG012 Gingival Overgrowth 43 0.031
347
OST011 Osteomalacia 42 0.031
348
c CHL082 Cholestasis, Progressive Familial Intrahepatic 3 42 0.031
349
P PTS002 Ptosis 42 0.031
350
P OSS001 Ossifying Fibroma 42 0.031
351
P HYP614 Hyperlipidemia, Familial Combined 42 0.031
352
NDL013 Nodular Regenerative Hyperplasia 42 0.031
353
DWR001 Dwarfism 42 0.031
354
SYN005 Synostosis 41 0.031
355
c PNT010 Pontocerebellar Hypoplasia Type 1 41 0.031
356
LFT009 Left Ventricular Outflow Tract Obstruction 41 0.031
357
CRB045 Cerebellar Hypoplasia 40 0.031
358
c BRT034 Bartter Syndrome, Type 2 40 0.031
359
P TRT010 Teratoma 40 0.031
360
c NNN013 Noonan Syndrome 6 40 0.031
361
URT001 Urethritis 40 0.031
362
TRC040 Tracheoesophageal Fistula 40 0.031
363
c CHL081 Cholestasis, Progressive Familial Intrahepatic 2 40 0.031
364
MNT002 Mental Depression 39 0.031
365
PLY012 Polyhydramnios 39 0.031
366
FMR004 Fumarase Deficiency 39 0.031
367
SKL017 Skeletal Dysplasias 39 0.031
368
P PNT019 Pontocerebellar Hypoplasia 38 0.031
369
TTH001 Tooth Ankylosis 38 0.031
370
P ICH004 Ichthyosis 38 0.031
371
TRC021 Tricuspid Valve Stenosis 38 0.031
372
c NNN011 Noonan Syndrome 4 38 0.031
373
SKL014 Skeletal Dysplasia 38 0.031
374
CMP042 Complement Factor H Deficiency 37 0.031
375
MYT022 Myotubular Myopathy, X-Linked 37 0.031
376
c OST131 Osteopetrosis, Autosomal Dominant 2 37 0.031
377
c LRS002 Larsen-Like Syndrome 37 0.031
378
c SPN330 Spondylocostal Dysostosis 5 37 0.031
379
c FNC032 Fanconi Anemia, Complementation Group B 36 0.031
380
c MCP012 Mucopolysaccharidosis Ih 36 0.031
381
GRN006 Granulomatous Angiitis 36 0.031
382
RNL025 Renal Hypoplasia 36 0.031
383
PLX002 Plexiform Neurofibroma 36 0.031
384
c AMY009 Amyloidosis Aa 35 0.031
385
VSC047 Vascular Malformation 35 0.031
386
ANN001 Anonychia Congenita 35 0.031
387
AMB002 Amblyopia 35 0.031
388
UMB002 Umbilical Hernia 35 0.031
389
PLS030 Plasminogen Deficiency, Type I 35 0.031
390
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 34 0.031
391
ARC001 Arcus Senilis 34 0.031
392
TRS007 Trismus-Pseudocamptodactyly Syndrome 34 0.031
393
c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 34 0.031
394
AST006 Astigmatism 34 0.031
395
CRB008 Cerebral Atherosclerosis 33 0.031
396
HYD001 Hydranencephaly 33 0.031
397
APL025 Apolipoprotein a-I Deficiency 33 0.031
398
OST069 Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 33 0.031
399
MLY006 Molybdenum Cofactor Deficiency a 33 0.031
400
CLB026 Colobomatous Microphthalmia 33 0.031
401
HYP081 Hypolipoproteinemia 33 0.031
402
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 33 0.031
403
RVL002 Ruvalcaba Syndrome 33 0.031
404
BDY001 Body Dysmorphic Disorder 33 0.031
405
P PLY024 Polymicrogyria 33 0.031
406
c MNT230 Mental Retardation, X-Linked Syndromic 5 32 0.031
407
c PRX059 Peroxisome Biogenesis Disorder 1a 32 0.031
408
SGT001 Sagittal Sinus Thrombosis 32 0.031
409
TMP012 Temple Syndrome 32 0.031
410
JBR033 Joubert Syndrome with Hepatic Defect 32 0.031
411
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 31 0.031
412
c JBR004 Joubert Syndrome 2 31 0.031
413
c MLG049 Malignant Syringoma 31 0.031
414
ENP001 Enophthalmos 31 0.031
415
PLL008 Pallister-Killian Syndrome 31 0.031
416
P CRB088 Cerebral Atrophy 31 0.031
417
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 30 0.031
418
PRX077 Peroxisomal Biogenesis Disorders 30 0.031
419
c ARC016 Auriculocondylar Syndrome 1 30 0.031
420
ANG037 Angiomatosis 30 0.031
421
CRT037 Cortical Dysplasia-Focal Epilepsy Syndrome 30 0.031
422
CRB002 Cerebral Primitive Neuroectodermal Tumor 29 0.031
423
15Q001 15q13.3 Microdeletion 29 0.031
424
c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 29 0.031
425
DGN003 Degeneration of Macula and Posterior Pole 29 0.031
426
c CNG191 Congenital Disorder of Glycosylation, Type Iia 29 0.031
427
c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 28 0.031
428
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 28 0.031
429
ENC010 Encephalocraniocutaneous Lipomatosis 28 0.031
430
c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 28 0.031
431
SPP007 Suppression Amblyopia 28 0.031
432
CHR543 Chromosome 2q37 Deletion Syndrome 28 0.031
433
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 28 0.031
434
c OST129 Osteopetrosis, Autosomal Recessive 2 28 0.031
435
CLD014 Cole Disease 28 0.031
436
RHB022 Rhabdoid Tumors, Somatic 28 0.031
437
c OST136 Osteopetrosis, Autosomal Recessive 7 28 0.031
438
SPS016 Spasmodic Dysphonia 28 0.031
439
NNT023 Neonatal Progeroid Syndrome 27 0.031
440
c RBN018 Robinow Syndrome, Autosomal Dominant 1 27 0.031
441
c OST137 Osteopetrosis, Autosomal Recessive 4 27 0.031
442
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 27 0.031
443
c OST120 Osteopetrosis, Autosomal Recessive 5 26 0.031
444
c HLP011 Holoprosencephaly-7 26 0.031
445
RTN006 Retinal Drusen 26 0.031
446
c OST127 Osteogenesis Imperfecta, Type X 26 0.031
447
TYP025 Typical Hemolytic-Uremic Syndrome 26 0.031
448
c CWD003 Cowden Syndrome 2 26 0.031
449
12Q002 12q14 Microdeletion Syndrome 26 0.031
450
P PRT063 Proteus-Like Syndrome 26 0.031
451
FLS001 Fils Syndrome 26 0.031
452
c KNN007 Kenny-Caffey Syndrome, Type 2 26 0.031
453
c MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 26 0.031
454
MNT231 Mental Retardation, X-Linked Syndromic, Nascimento-Type 25 0.031
455
2Q3002 2q37 Microdeletion Syndrome 25 0.031
456
3Q2001 3q29 Deletion Syndrome 25 0.031
457
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 25 0.031
458
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 25 0.031
459
ISL091 Isolated Corpus Callosum Agenesis 24 0.031
460
DRR004 Diarrhea 3, Secretory Sodium, Congenital, Syndromic 24 0.031
461
c EHL043 Ehlers-Danlos Syndrome, Progeroid Type, 1 24 0.031
462
CRN049 Craniolenticulosutural Dysplasia 24 0.031
463
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 24 0.031
464
FGS004 Fg Syndrome 4 24 0.031
465
P VCT008 Vacterl with Hydrocephalus 24 0.031
466
c CRN110 Cranioectodermal Dysplasia 3 24 0.031
467
ALR002 Al-Raqad Syndrome 23 0.031
468
SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 23 0.031
469
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 23 0.031
470
c STS007 Sotos Syndrome 2 23 0.031
471
SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 23 0.031
472
VCT007 Vacterl Association, X-Linked 23 0.031
473
c NNN021 Noonan Syndrome 8 23 0.031
474
ANR019 Anorectal Atresia 23 0.031
475
c CRN221 Craniosynostosis 4 23 0.031
476
c OST134 Osteopetrosis, Autosomal Recessive 6 22 0.031
477
c SCL042 Sclerosteosis 2 22 0.031
478
MGL003 Megalocornea 22 0.031
479
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 22 0.031
480
c ADM007 Adams-Oliver Syndrome 2 22 0.031
481
c MCR227 Microphthalmia, Syndromic 14 22 0.031
482
c CWD007 Cowden Syndrome 3 22 0.031
483
HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 22 0.031
484
SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 21 0.031
485
MLY005 Molybdenum Cofactor Deficiency B 21 0.031
486
P BRT028 Brittle Cornea Syndrome 1 21 0.031
487
c CWD005 Cowden Syndrome 4 21 0.031
488
c DSB005 Desbuquois Dysplasia 2 21 0.031
489
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 21 0.031
490
ATR055 Atrial Septal Aneurysm 21 0.031
491
FML292 Familial Drusen 21 0.031
492
PCT001 Pectus Carinatum 21 0.031
493
P ARC011 Auriculocondylar Syndrome 2 20 0.031
494
MGL027 Megalocornea-Intellectual Disability Syndrome 20 0.031
495
ACT225 Activated Pik3-Delta Syndrome 20 0.031
496
LBN004 Liebenberg Syndrome 20 0.031
497
SYN057 Syndromic Intellectual Disability 20 0.031
498
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 20 0.031
499
OCL039 Oculoectodermal Syndrome 19 0.031
500
P MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 19 0.031
501
PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 19 0.031
502
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 19 0.031
503
CLC055 Cole-Carpenter Syndrome 2 19 0.031
504
LMB011 Limb Deficiencies Distal with Micrognathia 19 0.031
505
SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 19 0.031
506
c ATS286 Autosomal Dominant Spondylocostal Dysostosis 19 0.031
507
c LSS025 Lissencephaly 5 19 0.031
508
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 19 0.031
509
AND005 Androgen Insensitivity Syndrome, Mild 19 0.031
510
HYP655 Hypertrichotic Osteochondrodysplasia, Cantu Type 19 0.031
511
LWG002 Low Gamma-Gt Familial Intrahepatic Cholestasis 18 0.031
512
CRN083 Craniofacial Dyssynostosis 18 0.031
513
c MNT216 Mental Retardation, Autosomal Recessive 41 17 0.031
514
SHK001 Shaken Baby Syndrome 17 0.031
515
c MNT239 Mental Retardation, Autosomal Dominant 35 17 0.031
516
BBB001 Bobble-Head Doll Syndrome 17 0.031
517
c LTH031 Lethal Congenital Contracture Syndrome 6 17 0.031
518
ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 16 0.031
519
CHR246 Chromosome 3q29 Microduplication Syndrome 16 0.031
520
HYD023 Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 16 0.031
521
NSD003 Nasodigitoacoustic Syndrome 16 0.031
522
CLP002 Colpocephaly 15 0.031
523
GRH004 Graham-Cox Syndrome 15 0.031
524
XLN177 X-Linked Intellectual Disability, Cabezas Type 15 0.031
525
BRC024 Brachydactyly Elbow Wrist Dysplasia 15 0.031
526
CMM015 Commissural Facial Cleft 15 0.031
527
SHR023 Short Stature Syndrome, Brussels Type 14 0.031
528
RDL024 Radio-Ulnar Synostosis - Intellectual Disability - Hypotonia 14 0.031
529
PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 14 0.031
530
CDD001 Cadds 14 0.031
531
15Q004 15q11q13 Microduplication Syndrome 14 0.031
532
3Q1001 3q13 Microdeletion Syndrome 14 0.031
533
XLN129 X-Linked Intellectual Disability, Armfield Type 14 0.031
534
MTC021 Mitochondrial Complex V Deficiency 13 0.031
535
HYP312 Hypophosphatemic Rickets and Hyperparathyroidism 13 0.031
536
APD001 Apo a-I Deficiency 13 0.031
537
SPN113 Spinocerebellar Ataxia with Dysmorphism 13 0.031
538
ERL022 Early-Onset Parkinsonism - Intellectual Disability 13 0.031
539
c SYN067 Syndromic X-Linked Intellectual Disability Due to Jarid1c Mutation 13 0.031
540
ECT071 Ectodermal Dysplasia - Intellectual Disability - Central Nervous System Malformation 12 0.031
541
CHR355 Chromosome 15q13.3 Microdeletion Syndrome 12 0.031
542
CHR366 Chromosome 5p13 Duplication Syndrome 12 0.031
543
GRW027 Growth Restriction, Severe, with Distinctive Facies 12 0.031
544
DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 12 0.031
545
1Q2002 1q21.1 Deletion 12 0.031
546
XLN183 X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures 11 0.031
547
MTP027 Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome 11 0.031
548
ECT022 Ectodermal Dysplasia with Natal Teeth Turnpenny Type 11 0.031
549
MTP009 Metaphyseal Dysostosis Mental Retardation Conductive Deafness 11 0.031
550
CHR383 Chromosome 1p32-P31 Deletion Syndrome 10 0.031
551
HYP277 Hypothalamic Hamartomas, Somatic 10 0.031
552
SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 10 0.031
553
CHR483 Chromosome 3q13.31 Deletion Syndrome 10 0.031
554
CHR275 Chromosome Xq28 Deletion Syndrome 9 0.031
555
GNG024 Gingival Fibromatosis - Facial Dysmorphism 9 0.031
556
CHR360 Chromosome 4q32.1-Q32.2 Triplication Syndrome 8 0.031
557
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 8 0.031
558
XLN178 X-Linked Epilepsy - Learning Disabilities - Behavior Disorders 8 0.031