Search results for "macrocephaly"

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

509 hits were found for 'macrocephaly'

# Family MCID Name MIFTS Score
1
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 34 4.562
2
MCR096 Macrocephaly/autism Syndrome 19 4.265
3
MCR221 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 15 3.946
4
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 26 3.924
5
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 56 3.629
6
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 15 3.259
7
MMS001 Momo Syndrome 23 3.248
8
PRT093 Proteus Syndrome, Somatic 55 3.237
9
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 13 2.859
10
MCR288 Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome 10 2.804
11
MCR031 Macrocephaly, Benign Familial 9 2.804
12
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 21 2.790
13
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 4 2.790
14
DND011 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia and Brachytelephalangy 3 2.318
15
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3 2.318
16
MNT139 Mental Retardation, X-Linked Syndromic, Turner Type 18 2.289
17
INT251 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome 8 2.289
18
RN2001 Rin2 Syndrome 13 2.272
19
ZRS001 Zori Stalker Williams Syndrome 10 2.272
20
BGT001 Bagatelle Cassidy Syndrome 3 2.252
21
MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 11 1.685
22
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 16 1.671
23
DND008 Dandy-Walker Malformation Associated with Macrocephaly, Facial Anomalies, Developmental Delay, and Brain Stem Dysgenesis 3 1.671
24
TNR001 Tenorio Syndrome 30 1.656
25
KNS002 Kniest Like Dysplasia Lethal 15 1.656
26
FCL061 Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome 10 1.656
27
MCR268 Macrocephaly-Developmental Delay Syndrome 5 1.656
28
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4 1.656
29
MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 2 1.656
30
OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 10 1.639
31
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 5 1.639
32
OVR110 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 5 1.639
33
MCR296 Macrocephaly-Intellectual Disability-Autism Syndrome 4 1.639
34
XLN213 X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome 3 1.639
35
SMT020 Smith-Kingsmore Syndrome 18 1.619
36
CLR029 Clark-Baraitser Syndrome 12 1.619
37
FML273 Familial Scaphocephaly Syndrome, Mcgillivray Type 11 1.619
38
MLT096 Multiple Epiphyseal Dysplasia, Al-Gazali Type 11 1.619
39
c FCS008 Fucosidosis Type 1 6 1.592
40
P THN009 Thanatophoric Dysplasia, Type I 62 0.078
41
GRG001 Greig Cephalopolysyndactyly Syndrome 54 0.078
42
OST022 Osteopathia Striata with Cranial Sclerosis 36 0.078
43
OPS002 Opsismodysplasia 32 0.078
44
P INT063 Intellectual Disability 31 0.078
45
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 52 0.072
46
MGL013 Megalencephaly 47 0.072
47
P BRS047 Breast Cancer 100 0.064
48
P MYC007 Myocardial Infarction 77 0.064
49
P CRD013 Cardiofaciocutaneous Syndrome 65 0.064
50
BSL036 Basal Cell Nevus Syndrome 62 0.064
51
MTC007 Mitochondrial Complex I Deficiency 59 0.064
52
MNK003 Muenke Syndrome 55 0.064
53
ACR008 Acrocallosal Syndrome 52 0.064
54
P WVR001 Weaver Syndrome 49 0.064
55
P STS008 Sotos Syndrome 1 47 0.064
56
c CWD006 Cowden Syndrome 1 40 0.064
57
GLT021 Glutaricaciduria, Type I 37 0.064
58
HYP622 Hypertrichotic Osteochondrodysplasia 34 0.064
59
DSM002 Desmosterolosis 33 0.064
60
OPT054 Opitz-Kaveggia Syndrome 31 0.064
61
WTS001 Watson Syndrome 25 0.064
62
CHR225 Chromosome 1q21.1 Duplication Syndrome 21 0.064
63
P FRG001 Fragile X Syndrome 64 0.055
64
P LKM002 Leukemia 63 0.055
65
CMP005 Campomelic Dysplasia 62 0.055
66
P CWD001 Cowden Disease 61 0.055
67
HYP042 Hypochondroplasia 57 0.055
68
c MCP009 Mucopolysaccharidosis Ii 57 0.055
69
P CNV004 Canavan Disease 54 0.055
70
PRL032 Perlman Syndrome 50 0.055
71
c MNN025 Mannosidosis, Alpha-, Types I and Ii 49 0.055
72
P MYP006 Myopia 48 0.055
73
P SHR029 Short Syndrome 47 0.055
74
JCB001 Jacobsen Syndrome 47 0.055
75
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 46 0.055
76
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.055
77
LGS001 Legius Syndrome 42 0.055
78
PGT008 Paget Disease of Bone 5, Juvenile-Onset 42 0.055
79
PRP016 Paraplegia 39 0.055
80
PHL006 Phelan-Mcdermid Syndrome 39 0.055
81
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 37 0.055
82
SCH030 Schneckenbecken Dysplasia 37 0.055
83
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 34 0.055
84
NNN014 Noonan-Like Syndrome with Loose Anagen Hair 34 0.055
85
DNN002 Donnai-Barrow Syndrome 34 0.055
86
c RBN009 Robinow Syndrome, Autosomal Recessive 33 0.055
87
BDY001 Body Dysmorphic Disorder 33 0.055
88
PTN006 Pten Hamartoma Tumor Syndrome 33 0.055
89
c OST126 Osteopetrosis, Autosomal Recessive 1 32 0.055
90
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 32 0.055
91
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 31 0.055
92
PRM056 Primrose Syndrome 27 0.055
93
ACR002 Acrocapitofemoral Dysplasia 23 0.055
94
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 23 0.055
95
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 21 0.055
96
EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 17 0.055
97
ATK001 Atkin Syndrome 15 0.055
98
P RHM011 Rheumatoid Arthritis 87 0.045
99
P RNL014 Renal Cell Carcinoma 81 0.045
100
P TYS001 Tay-Sachs Disease 68 0.045
101
P OST005 Osteogenesis Imperfecta 67 0.045
102
CST001 Costello Syndrome 66 0.045
103
ACH004 Achondroplasia 65 0.045
104
P CLD001 Cleidocranial Dysplasia 65 0.045
105
P HLP001 Holoprosencephaly 63 0.045
106
P ART022 Arthritis 63 0.045
107
c MCP037 Mucopolysaccharidosis is 63 0.045
108
P OST001 Osteopetrosis 61 0.045
109
DST005 Diastrophic Dysplasia 58 0.045
110
P LYM118 Lymphoma 57 0.045
111
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 57 0.045
112
MCK007 Muckle-Wells Syndrome 57 0.045
113
WLK001 Walker-Warburg Syndrome 56 0.045
114
MLT135 Multiple Sulfatase Deficiency 55 0.045
115
P ALX003 Alexander Disease 55 0.045
116
MLN008 Melanoma 55 0.045
117
KLP010 Klippel-Trenaunay-Weber Syndrome 54 0.045
118
c MCP004 Mucopolysaccharidosis Iv 53 0.045
119
c LCL006 Localized Scleroderma 53 0.045
120
ART001 Arterial Tortuosity Syndrome 52 0.045
121
BRJ001 Borjeson-Forssman-Lehmann Syndrome 52 0.045
122
PLY056 Polyposis, Juvenile Intestinal 52 0.045
123
IRR002 Irritable Bowel Syndrome 52 0.045
124
CNC002 Cinca Syndrome 51 0.045
125
P GLM007 Glomerulonephritis 50 0.045
126
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 50 0.045
127
CCH002 Coach Syndrome 50 0.045
128
CYT008 Cytomegalovirus Infection 47 0.045
129
CNS004 Constipation 46 0.045
130
c ACH033 Achondrogenesis, Type Ia 46 0.045
131
c SPR009 Sporadic Breast Cancer 46 0.045
132
c THN010 Thanatophoric Dysplasia, Type Ii 45 0.045
133
c ACH035 Achondrogenesis Ib 45 0.045
134
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 44 0.045
135
CRB009 Cerebritis 44 0.045
136
MLB001 Mulibrey Nanism 43 0.045
137
P CRN013 Craniodiaphyseal Dysplasia 42 0.045
138
RTN023 Retinitis 42 0.045
139
P ACH011 Achondrogenesis 41 0.045
140
HYL004 Hyaline Fibromatosis Syndrome 41 0.045
141
NNT017 Neonatal Adrenoleukodystrophy 41 0.045
142
c BRC082 Brachydactyly, Type E 38 0.045
143
c CWD008 Cowden Syndrome 6 38 0.045
144
TRP014 Triploidy 38 0.045
145
URT001 Urethritis 37 0.045
146
c SPN081 Spondylocostal Dysostosis, Autosomal Recessive 36 0.045
147
TTR016 Tetra-Amelia Syndrome 36 0.045
148
c ATS082 Autosomal Dominant Robinow Syndrome 36 0.045
149
c ATS282 Autosomal Recessive Malignant Osteopetrosis 34 0.045
150
P RTS001 Ritscher-Schinzel Syndrome 33 0.045
151
CHR355 Chromosome 15q13.3 Microdeletion Syndrome 32 0.045
152
SPS057 Spasticity 31 0.045
153
c CNG187 Congenital Disorder of Glycosylation, Type Iid 30 0.045
154
IMM013 Immunodeficiency, Centromere Instability and Facial Anomalies Syndrome 30 0.045
155
c MNT109 Mental Retardation, X-Linked, Syndromic 15 29 0.045
156
c CWD004 Cowden Syndrome 5 28 0.045
157
TMT003 Temtamy Syndrome 27 0.045
158
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 26 0.045
159
WSM002 Waisman Syndrome 26 0.045
160
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 26 0.045
161
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 25 0.045
162
MGL032 Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome 24 0.045
163
FGS002 Fg Syndrome 2 24 0.045
164
DYS045 Dysosteosclerosis 23 0.045
165
c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 23 0.045
166
c FRN037 Frontal Encephalocele 22 0.045
167
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 21 0.045
168
FNT003 Fountain Syndrome 21 0.045
169
CHR483 Chromosome 3q13.31 Deletion Syndrome 21 0.045
170
SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 20 0.045
171
c OST106 Osteopetrosis, Autosomal Recessive 8 20 0.045
172
c RBN017 Robinow Syndrome, Autosomal Dominant 2 20 0.045
173
MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 20 0.045
174
ISL062 Isolated Plagiocephaly 20 0.045
175
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 20 0.045
176
CHR224 Chromosome 1q Duplication 18 0.045
177
CHR252 Chromosome 5p Duplication 18 0.045
178
c BNG076 Benign Exophthalmos Syndrome 17 0.045
179
CRN087 Craniomicromelic Syndrome 17 0.045
180
SMM003 Summitt Syndrome 17 0.045
181
c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 16 0.045
182
ANG062 Angioosteohypertrophic Syndrome 15 0.045
183
MSC026 Muscular Dystrophy White Matter Spongiosis 15 0.045
184
PYK001 Pyknoachondrogenesis 15 0.045
185
P MNS011 Monosomy 9q22.3 15 0.045
186
c SVR048 Severe Canavan Disease 14 0.045
187
DST055 Distal 22q11.2 Microduplication Syndrome 14 0.045
188
LTH005 Lethal Chondrodysplasia Moerman Type 14 0.045
189
OST047 Osteopenia and Sparse Hair 14 0.045
190
SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 14 0.045
191
20P001 20p12.3 Microdeletion Syndrome 14 0.045
192
10Q001 10q22.3q23.3 Microdeletion Syndrome 14 0.045
193
6Q1001 6q16 Deletion Syndrome 13 0.045
194
LNR012 Linear Verrucous Nevus Syndrome 13 0.045
195
PRX069 Proximal 16p11.2 Microdeletion Syndrome 13 0.045
196
CRB071 Cerebral Gigantism Jaw Cysts 12 0.045
197
THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 12 0.045
198
c RBN010 Robinow-Like Syndrome 11 0.045
199
TRP011 Triopia 11 0.045
200
OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 11 0.045
201
ISL030 Isolated Cerebellar Hypoplasia/agenesis 11 0.045
202
EPM003 Epimetaphyseal Skeletal Dysplasia 11 0.045
203
P CLR023 Colorectal Cancer 91 0.032
204
P PRS040 Prostate Cancer 87 0.032
205
P OBS005 Obesity 87 0.032
206
HPT023 Hepatocellular Carcinoma 87 0.032
207
P OST002 Osteoporosis 76 0.032
208
MLR004 Malaria 75 0.032
209
P FLL037 Follicular Lymphoma 70 0.032
210
c CHR090 Chronic Lymphocytic Leukemia 69 0.032
211
P NRB001 Neuroblastoma 69 0.032
212
P HMC003 Hemochromatosis 69 0.032
213
P CRN211 Coronary Artery Disease 69 0.032
214
P ALG002 Alagille Syndrome 67 0.032
215
TTR001 Tetralogy of Fallot 66 0.032
216
CDS001 Cadasil 66 0.032
217
MYL009 Myelodysplastic Syndrome 65 0.032
218
TBR010 Tuberculosis 65 0.032
219
CNG034 Congestive Heart Failure 64 0.032
220
P HPT021 Hepatitis 63 0.032
221
P CLC005 Celiac Disease 63 0.032
222
INC002 Inclusion Body Myositis 63 0.032
223
c MCP003 Mucopolysaccharidosis Vii 62 0.032
224
CNG368 Congenital Adrenal Hyperplasia 61 0.032
225
P MYL006 Myeloid Leukemia 61 0.032
226
P TBR001 Tuberous Sclerosis 60 0.032
227
P LVR013 Liver Disease 60 0.032
228
P ATR011 Atrial Fibrillation 59 0.032
229
WLF001 Wolff-Parkinson-White Syndrome 59 0.032
230
P AMY004 Amyloidosis 59 0.032
231
TNG002 Tangier Disease 59 0.032
232
P ATS007 Autism Spectrum Disorder 59 0.032
233
P PNC025 Panic Disorder 59 0.032
234
P ADN016 Adenocarcinoma 59 0.032
235
P PLY011 Polycystic Ovary Syndrome 58 0.032
236
HJD001 Hajdu-Cheney Syndrome 58 0.032
237
PTR006 Peters Anomaly 58 0.032
238
P HYD006 Hydrocephalus 58 0.032
239
LKN001 Leukoencephalopathy with Vanishing White Matter 57 0.032
240
c MCP024 Mucopolysaccharidosis Type Vi 57 0.032
241
c HPT016 Hepatitis B 57 0.032
242
P PRD008 Periodontitis 57 0.032
243
c JBR020 Joubert Syndrome 1 57 0.032
244
c HMP004 Hemophilia B 57 0.032
245
P ANR007 Anorexia Nervosa 56 0.032
246
P PNM007 Pneumonia 56 0.032
247
c OST122 Osteogenesis Imperfecta, Type Iii 56 0.032
248
P FCL005 Focal Segmental Glomerulosclerosis 55 0.032
249
SHW002 Shwachman-Diamond Syndrome 55 0.032
250
DRM006 Dermatitis 55 0.032
251
P PRM002 Primary Hyperoxaluria 55 0.032
252
P MYS005 Myositis 55 0.032
253
CNT047 Contact Dermatitis 55 0.032
254
P LYM026 Lymphoblastic Leukemia 55 0.032
255
P MSC005 Muscular Dystrophy 54 0.032
256
ALP008 Alopecia 54 0.032
257
P MLT007 Multiple Epiphyseal Dysplasia 54 0.032
258
ALL010 Allergic Contact Dermatitis 53 0.032
259
P ANT006 Antiphospholipid Syndrome 53 0.032
260
PRS047 Prostatitis 53 0.032
261
P CRN012 Craniometaphyseal Dysplasia 53 0.032
262
CYS010 Cystinosis 53 0.032
263
c BRD010 Bardet-Biedl Syndrome 1 52 0.032
264
KRN002 Kearns-Sayre Syndrome 52 0.032
265
P VNT002 Ventricular Septal Defect 51 0.032
266
c ACT075 Acute Myocardial Infarction 51 0.032
267
VCT001 Vacterl Association 51 0.032
268
P SMP003 Simpson-Golabi-Behmel Syndrome 51 0.032
269
TST014 Testicular Cancer 51 0.032
270
P GLT023 Glutaric Acidemia Iic 51 0.032
271
P CTS001 Cutis Laxa 51 0.032
272
RHM027 Rheumatic Disease 51 0.032
273
P INT001 Intrahepatic Cholestasis 50 0.032
274
P ENC004 Encephalitis 50 0.032
275
P LRY019 Laryngitis 50 0.032
276
P LRY016 Laryngeal Carcinoma 50 0.032
277
P HMP007 Hemophilia 50 0.032
278
CHR029 Choroid Plexus Papilloma 50 0.032
279
RLP001 Relapsing Polychondritis 49 0.032
280
TYP011 Typhus 49 0.032
281
P THY032 Thyroiditis 49 0.032
282
MSS001 Masa Syndrome 49 0.032
283
NRF008 Neurofibromatosis-Noonan Syndrome 49 0.032
284
ART111 Artery Disease 49 0.032
285
CHL069 Cholesteatoma 48 0.032
286
c NNN021 Noonan Syndrome 8 48 0.032
287
c CNT035 Central Nervous System Disease 48 0.032
288
SPH001 Sapho Syndrome 48 0.032
289
CNN005 Connective Tissue Disease 48 0.032
290
P OSS001 Ossifying Fibroma 47 0.032
291
PGM001 Pigmented Villonodular Synovitis 47 0.032
292
ATY005 Atypical Teratoid Rhabdoid Tumor 47 0.032
293
P AGG001 Aggressive Periodontitis 47 0.032
294
P HML001 Hemolytic-Uremic Syndrome 47 0.032
295
STL001 St. Louis Encephalitis 47 0.032
296
P D2H001 D-2-Hydroxyglutaric Aciduria 47 0.032
297
P NRP001 Neuropathy 47 0.032
298
DBF001 D-Bifunctional Protein Deficiency 47 0.032
299
SYN007 Synovitis 46 0.032
300
ANR040 Aneurysm 46 0.032
301
HMT018 Hematopoietic Stem Cell Transplantation 46 0.032
302
HYP266 Hypoxia 46 0.032
303
HDC001 Headache 45 0.032
304
P PLG001 Pelger-Huet Anomaly 45 0.032
305
DYS014 Dyspepsia 45 0.032
306
P ACT135 Acute Graft Versus Host Disease 45 0.032
307
PLM010 Pulmonary Edema 45 0.032
308
CHL068 Cholestasis 45 0.032
309
HMM003 Hemimegalencephaly 44 0.032
310
P SLL003 Salla Disease 44 0.032
311
SNS001 Sensorineural Hearing Loss 44 0.032
312
PRR002 Pure Red-Cell Aplasia 44 0.032
313
INC001 Incontinentia Pigmenti Achromians 44 0.032
314
MCR088 Microscopic Polyangiitis 44 0.032
315
IMG001 Image Syndrome 44 0.032
316
NRG002 Neurogenic Bladder 44 0.032
317
P ATX004 Ataxia 43 0.032
318
FCL012 Facial Paralysis 43 0.032
319
c LRG001 Large Cell Carcinoma 43 0.032
320
CRN014 Cronkhite-Canada Syndrome 43 0.032
321
P PRN026 Porencephaly 43 0.032
322
DVR002 Diverticulitis 43 0.032
323
LFT009 Left Ventricular Outflow Tract Obstruction 42 0.032
324
P ESN008 Eosinophilic Pneumonia 42 0.032
325
P SCL018 Scoliosis 42 0.032
326
SBS004 Substance Dependence 41 0.032
327
TRC040 Tracheoesophageal Fistula 41 0.032
328
P CRV039 Cervicitis 41 0.032
329
c CHL080 Cholestasis, Progressive Familial Intrahepatic 1 41 0.032
330
NDL013 Nodular Regenerative Hyperplasia 41 0.032
331
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 41 0.032
332
DBT006 Diabetic Macular Edema 41 0.032
333
VLL003 Villonodular Synovitis 40 0.032
334
HYP457 Hypertrophic Scars 40 0.032
335
AML001 Amelanotic Melanoma 40 0.032
336
ACT055 Actinomycosis 40 0.032
337
CLC055 Cole-Carpenter Syndrome 2 39 0.032
338
c FNC032 Fanconi Anemia, Complementation Group B 39 0.032
339
GRN039 Greenberg Skeletal Dysplasia 38 0.032
340
P SYR001 Syringomyelia 38 0.032
341
HYP081 Hypolipoproteinemia 37 0.032
342
c OST131 Osteopetrosis, Autosomal Dominant 2 37 0.032
343
c CHR037 Chronic Eosinophilic Pneumonia 37 0.032
344
TRC021 Tricuspid Valve Stenosis 37 0.032
345
LYM010 Lymph Node Tuberculosis 37 0.032
346
FMR004 Fumarase Deficiency 37 0.032
347
c MCP012 Mucopolysaccharidosis Ih 36 0.032
348
CRB045 Cerebellar Hypoplasia 36 0.032
349
GRN006 Granulomatous Angiitis 36 0.032
350
c NNN011 Noonan Syndrome 4 36 0.032
351
P ARC016 Auriculocondylar Syndrome 1 35 0.032
352
CYS009 Cystadenoma 35 0.032
353
MYT022 Myotubular Myopathy, X-Linked 35 0.032
354
BRS090 Breast Reconstruction 35 0.032
355
SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 34 0.032
356
HYD005 Hydrocele 33 0.032
357
PLS030 Plasminogen Deficiency, Type I 33 0.032
358
SPT007 Spitz Nevus 33 0.032
359
AST006 Astigmatism 33 0.032
360
ENC010 Encephalocraniocutaneous Lipomatosis 32 0.032
361
P HYP265 Hypotonia 32 0.032
362
OST069 Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 32 0.032
363
c SPN330 Spondylocostal Dysostosis 5 32 0.032
364
c CNG191 Congenital Disorder of Glycosylation, Type Iia 32 0.032
365
c RBN018 Robinow Syndrome, Autosomal Dominant 1 32 0.032
366
HRP005 Herpetic Whitlow 32 0.032
367
RHB022 Rhabdoid Tumors, Somatic 32 0.032
368
LJN003 Lujan-Fryns Syndrome 32 0.032
369
CHR356 Chromosome 3q29 Microdeletion Syndrome 32 0.032
370
TRS007 Trismus-Pseudocamptodactyly Syndrome 32 0.032
371
TMP012 Temple Syndrome 32 0.032
372
c PRX059 Peroxisome Biogenesis Disorder 1a 31 0.032
373
c CHL081 Cholestasis, Progressive Familial Intrahepatic 2 31 0.032
374
c LRS002 Larsen-Like Syndrome 31 0.032
375
c JBR004 Joubert Syndrome 2 31 0.032
376
c CWD003 Cowden Syndrome 2 31 0.032
377
c OST129 Osteopetrosis, Autosomal Recessive 2 30 0.032
378
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 30 0.032
379
c CHL082 Cholestasis, Progressive Familial Intrahepatic 3 30 0.032
380
c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 30 0.032
381
DGN003 Degeneration of Macula and Posterior Pole 30 0.032
382
PLL008 Pallister-Killian Syndrome 30 0.032
383
c BRT034 Bartter Syndrome, Type 2 30 0.032
384
c HYD008 Hydrocephalus Due to Aqueductal Stenosis 30 0.032
385
P GGN002 Gigantism 30 0.032
386
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 30 0.032
387
CLB026 Colobomatous Microphthalmia 29 0.032
388
TYP025 Typical Hemolytic-Uremic Syndrome 29 0.032
389
VSL002 Visual Epilepsy 29 0.032
390
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 29 0.032
391
NNT023 Neonatal Progeroid Syndrome 29 0.032
392
CNG069 Congenital Cytomegalovirus 28 0.032
393
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 28 0.032
394
RTN006 Retinal Drusen 28 0.032
395
CRN006 Coronary Aneurysm 28 0.032
396
c SPN299 Spinocerebellar Ataxia 20 28 0.032
397
PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 27 0.032
398
MLY006 Molybdenum Cofactor Deficiency a 27 0.032
399
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 27 0.032
400
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 27 0.032
401
c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 27 0.032
402
c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 27 0.032
403
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.032
404
c OST127 Osteogenesis Imperfecta, Type X 26 0.032
405
CRT037 Cortical Dysplasia-Focal Epilepsy Syndrome 26 0.032
406
c MNT230 Mental Retardation, X-Linked Syndromic 5 26 0.032
407
c KNN007 Kenny-Caffey Syndrome, Type 2 26 0.032
408
c AMY009 Amyloidosis Aa 26 0.032
409
c OST120 Osteopetrosis, Autosomal Recessive 5 26 0.032
410
c NNN013 Noonan Syndrome 6 25 0.032
411
P PRT063 Proteus-Like Syndrome 25 0.032
412
c OST136 Osteopetrosis, Autosomal Recessive 7 25 0.032
413
CHR543 Chromosome 2q37 Deletion Syndrome 25 0.032
414
c HLP011 Holoprosencephaly-7 25 0.032
415
FLS001 Fils Syndrome 25 0.032
416
CRN049 Craniolenticulosutural Dysplasia 24 0.032
417
SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 24 0.032
418
LBN004 Liebenberg Syndrome 24 0.032
419
c OST137 Osteopetrosis, Autosomal Recessive 4 24 0.032
420
c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 24 0.032
421
DRR004 Diarrhea 3, Secretory Sodium, Congenital, Syndromic 24 0.032
422
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 24 0.032
423
ALR002 Al-Raqad Syndrome 24 0.032
424
DND005 Dandy-Walker Complex 24 0.032
425
CHR366 Chromosome 5p13 Duplication Syndrome 24 0.032
426
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 24 0.032
427
SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 24 0.032
428
CHR383 Chromosome 1p32-P31 Deletion Syndrome 24 0.032
429
PRQ002 Paraquat Poisoning 24 0.032
430
c STS007 Sotos Syndrome 2 23 0.032
431
PLM059 Pulmonary Atresia with Ventricular Septal Defect 23 0.032
432
MNT231 Mental Retardation, X-Linked Syndromic, Nascimento-Type 23 0.032
433
c CRN110 Cranioectodermal Dysplasia 3 23 0.032
434
2Q3002 2q37 Microdeletion Syndrome 23 0.032
435
c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 23 0.032
436
SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 23 0.032
437
OSM001 Osmotic Diarrhea 22 0.032
438
c ADM007 Adams-Oliver Syndrome 2 22 0.032
439
FGS004 Fg Syndrome 4 22 0.032
440
LJN002 Lujan Syndrome 22 0.032
441
HYP312 Hypophosphatemic Rickets and Hyperparathyroidism 22 0.032
442
OCL039 Oculoectodermal Syndrome 22 0.032
443
c MYC058 Myocardial Infarction 2 22 0.032
444
c OST134 Osteopetrosis, Autosomal Recessive 6 22 0.032
445
c CRN221 Craniosynostosis 4 22 0.032
446
CHR246 Chromosome 3q29 Microduplication Syndrome 22 0.032
447
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 22 0.032
448
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 22 0.032
449
c SCL042 Sclerosteosis 2 22 0.032
450
SCR033 Scar Contracture 21 0.032
451
c DSB005 Desbuquois Dysplasia 2 21 0.032
452
c CWD007 Cowden Syndrome 3 21 0.032
453
c EHL043 Ehlers-Danlos Syndrome, Progeroid Type, 1 21 0.032
454
c MCR227 Microphthalmia, Syndromic 14 21 0.032
455
ISL091 Isolated Corpus Callosum Agenesis 21 0.032
456
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 21 0.032
457
c BRT028 Brittle Cornea Syndrome 1 20 0.032
458
c CWD005 Cowden Syndrome 4 20 0.032
459
c LSS025 Lissencephaly 5 20 0.032
460
FML292 Familial Drusen 20 0.032
461
VCT007 Vacterl Association, X-Linked 20 0.032
462
HYP655 Hypertrichotic Osteochondrodysplasia, Cantu Type 20 0.032
463
HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 20 0.032
464
P VCT008 Vacterl with Hydrocephalus 19 0.032
465
MLY005 Molybdenum Cofactor Deficiency B 19 0.032
466
LMB011 Limb Deficiencies Distal with Micrognathia 19 0.032
467
MGL027 Megalocornea-Intellectual Disability Syndrome 19 0.032
468
c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 19 0.032
469
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 19 0.032
470
c ATS286 Autosomal Dominant Spondylocostal Dysostosis 19 0.032
471
INH011 Inherited Bone Marrow Failure Syndromes 19 0.032
472
CRN083 Craniofacial Dyssynostosis 19 0.032
473
c ARC011 Auriculocondylar Syndrome 2 18 0.032
474
c MNT216 Mental Retardation, Autosomal Recessive 41 18 0.032
475
CHR190 Chromosome 12p Duplication 18 0.032
476
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 18 0.032
477
ANR019 Anorectal Atresia 17 0.032
478
AND005 Androgen Insensitivity Syndrome, Mild 17 0.032
479
DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 16 0.032
480
NSD003 Nasodigitoacoustic Syndrome 16 0.032
481
c MNT239 Mental Retardation, Autosomal Dominant 35 16 0.032
482
BRC024 Brachydactyly Elbow Wrist Dysplasia 16 0.032
483
ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 15 0.032
484
BTH004 Bathing Suit Ichthyosis 15 0.032
485
c LTH031 Lethal Congenital Contracture Syndrome 6 15 0.032
486
HYD023 Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 15 0.032
487
MTC021 Mitochondrial Complex V Deficiency 15 0.032
488
GRH004 Graham-Cox Syndrome 14 0.032
489
PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 14 0.032
490
XLN177 X-Linked Intellectual Disability, Cabezas Type 14 0.032
491
SHR023 Short Stature Syndrome, Brussels Type 13 0.032
492
RDL027 Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome 13 0.032
493
15Q004 15q11q13 Microduplication Syndrome 12 0.032
494
XLN129 X-Linked Intellectual Disability, Armfield Type 12 0.032
495
SPN113 Spinocerebellar Ataxia with Dysmorphism 12 0.032
496
MTP009 Metaphyseal Dysostosis Mental Retardation Conductive Deafness 12 0.032
497
DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 12 0.032
498
c SYN067 Syndromic X-Linked Intellectual Disability Due to Jarid1c Mutation 12 0.032
499
ERL033 Early-Onset Parkinsonism-Intellectual Disability Syndrome 12 0.032
500
ECT082 Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome 12 0.032
501
GRW027 Growth Restriction, Severe, with Distinctive Facies 11 0.032
502
MTP027 Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome 10 0.032
503
ECT022 Ectodermal Dysplasia with Natal Teeth Turnpenny Type 10 0.032
504
SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 9 0.032
505
HYP277 Hypothalamic Hamartomas, Somatic 9 0.032
506
CHR360 Chromosome 4q32.1-Q32.2 Triplication Syndrome 9 0.032
507
GNG026 Gingival Fibromatosis-Facial Dysmorphism Syndrome 8 0.032
508
CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 8 0.032
509
XLN205 X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome 7 0.032