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

380 hits were found for 'macrocephaly'

# ++ Fam MCID Name MIFTS Score
1
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 16 4.004
2
MCR096 Macrocephaly/autism Syndrome 14 4.004
3
MCR168 Macrocephaly - Spastic Paraplegia - Dysmorphism 10 3.670
4
MMS001 Momo Syndrome 18 3.364
5
c MCR031 Macrocephaly, Benign Familial 5 3.301
6
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 3 3.269
7
MCR033 Macrocephaly-Capillary Malformation 13 3.019
8
c DND011 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia and Brachytelephalangy 1 2.867
9
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 1 2.867
10
ZRS001 Zori Stalker Williams Syndrome 10 2.850
11
FCL035 Facial Dysmorphism - Macrocephaly - Myopia - Dandy-Walker Malformation 9 2.850
12
MCR221 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 6 2.831
13
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 57 2.488
14
MCR174 Macrocephaly - Short Stature - Paraplegia 8 2.458
15
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 2 2.448
16
MGL022 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 23 2.413
17
P PRT008 Proteus Syndrome 55 2.371
18
DND008 Dandy-Walker Malformation Associated with Macrocephaly, Facial Anomalies, Developmental Delay, and Brain Stem Dysgenesis 2 2.354
19
INT206 Intellectual Deficit, X-Linked - Macrocephaly - Macro-Orchidism 11 2.334
20
MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 0 2.334
21
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 18 2.312
22
OST102 Osteoporosis - Macrocephaly - Blindness - Joint Hyperlaxity 5 2.312
23
P MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 5 2.312
24
BGT001 Bagatelle Cassidy Syndrome 2 2.312
25
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 2 2.312
26
MCR198 Macrocephaly - Immune Deficiency - Anemia 1 2.312
27
XLN095 X-Linked Recessive Intellectual Deficit - Macrocephaly - Ciliary Dysfunction 1 2.312
28
HYP461 Hypocomplementemic Urticarial Vasculitis Syndrome 27 1.867
29
MCD001 Mac Dermot Winter Syndrome 16 1.821
30
PRT093 Proteus Syndrome, Somatic 39 1.664
31
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 12 1.664
32
KNS002 Kniest Like Dysplasia Lethal 12 1.664
33
MLT096 Multiple Epiphyseal Dysplasia, Al-Gazali Type 10 1.664
34
c FCS008 Fucosidosis Type 1 4 1.635
35
CLR029 Clark-Baraitser Syndrome 3 1.635
36
c XP2001 Xp22.3 Microdeletion Syndrome 17 0.273
37
CMM015 Commissural Facial Cleft 16 0.215
38
14Q004 14q22q23 Microdeletion Syndrome 25 0.212
39
3Q2005 3q26q27 Microdeletion Syndrome 14 0.212
40
CTS011 Cutis Marmorata Telangiectatica Congenita 37 0.196
41
P MYP018 Myopia 6 23 0.175
42
MGL021 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 22 0.164
43
MGL024 Megalencephaly, Autosomal Recessive 19 0.156
44
21Q001 21q22.11q22.12 Microdeletion Syndrome 13 0.156
45
PRP016 Paraplegia 42 0.152
46
c MNT147 Mental Retardation 51 0.143
47
14Q001 14q12 Microdeletion Syndrome 23 0.139
48
c 2P1003 2p13.2 Microdeletion Syndrome 11 0.139
49
c DST058 Distal Monosomy 12p 16 0.134
50
MNS013 Monosomy 13q34 14 0.134
51
P TTH016 Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 34 0.129
52
17Q001 17q21.31 Microdeletion Syndrome 29 0.129
53
c CHR226 Chromosome 1q41-Q42 Deletion Syndrome 23 0.129
54
ANP018 Anophthalmia Plus Syndrome 22 0.129
55
MCR071 Microdeletion 15q11.2 21 0.129
56
10P002 10p11.21p12.31 Microdeletion Syndrome 14 0.124
57
c 2Q3005 2q31.1 Microdeletion Syndrome 22 0.119
58
17Q007 17q11 Microdeletion Syndrome 21 0.119
59
12P001 12p12.1 Microdeletion Syndrome 15 0.119
60
PSY004 Psychotic Disorder 62 0.113
61
P HYD006 Hydrocephalus 60 0.113
62
SNG010 Single Median Maxillary Central Incisor 50 0.113
63
JCB001 Jacobsen Syndrome 49 0.113
64
c VCT004 Vacterl Association with Hydrocephalus 13 0.113
65
IMP002 Imperforate Anus 47 0.107
66
19Q001 19q13.11 Microdeletion Syndrome 21 0.107
67
SCN006 Secondary Syphilis 53 0.101
68
c CHR266 Chromosome 8p23.1 Deletion 21 0.101
69
PRT015 Partial Third-Nerve Palsy 19 0.101
70
P OBS005 Obesity 79 0.095
71
NSY001 N Syndrome 57 0.095
72
17Q004 17q12 Microdeletion Syndrome 32 0.095
73
HMH002 Hemihypertrophy 57 0.088
74
LRN003 Learning Disability 54 0.088
75
THR013 Thoracic Outlet Syndrome 53 0.088
76
DND001 Dandy-Walker Syndrome 52 0.088
77
1P3001 1p36 Deletion Syndrome 44 0.088
78
RVL002 Ruvalcaba Syndrome 42 0.088
79
c OPT004 Optic Atrophy 41 0.088
80
c 3Q2003 3q29 Microdeletion Syndrome 37 0.088
81
OP3001 Opa3-Related 3-Methylglutaconic Aciduria 36 0.088
82
12Q002 12q14 Microdeletion Syndrome 28 0.088
83
FNC043 Fanconi Anemia, Complementation Group E 27 0.088
84
10Q001 10q22.3q23.3 Microdeletion Syndrome 19 0.088
85
12Q001 12q15q21.1 Microdeletion Syndrome 14 0.088
86
c LKN016 Leukoencephalopathy with Mild Cerebellar Ataxia and White Matter Edema 11 0.088
87
ANK002 Ankylosing Spondylitis 75 0.080
88
P SHR002 Short Stature 64 0.080
89
P MLT007 Multiple Epiphyseal Dysplasia 63 0.080
90
PLY012 Polyhydramnios 49 0.080
91
CRK001 Cork-Handlers' Disease 28 0.080
92
2Q3003 2q32q33 Microdeletion Syndrome 25 0.080
93
c 2Q2001 2q23.1 Microdeletion Syndrome 25 0.080
94
c 4Q2001 4q21 Microdeletion Syndrome 24 0.080
95
c CWD001 Cowden Disease 63 0.072
96
P ATS007 Autism Spectrum Disorder 59 0.072
97
c MCR010 Microcephaly 54 0.072
98
c GGN002 Gigantism 51 0.072
99
HYP265 Hypotonia 43 0.072
100
SPS057 Spasticity 42 0.072
101
MGL013 Megalencephaly 41 0.072
102
SCH016 Schimke Immunoosseous Dysplasia 40 0.072
103
TTR016 Tetra-Amelia Syndrome 36 0.072
104
ENP001 Enophthalmos 33 0.072
105
15Q001 15q13.3 Microdeletion 29 0.072
106
MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 29 0.072
107
c MLG049 Malignant Syringoma 24 0.072
108
c 9P1001 9p13 Microdeletion Syndrome 13 0.072
109
c 5Q3002 5q31.3 Microdeletion Syndrome 13 0.072
110
FNC001 Fanconi's Anemia 66 0.062
111
P HLP001 Holoprosencephaly 61 0.062
112
P PLY006 Polydactyly 55 0.062
113
P EPL002 Epilepsy Syndrome 52 0.062
114
c SYN001 Syndactyly 52 0.062
115
ANK001 Ankylosis 51 0.062
116
P CWD006 Cowden Syndrome 1 46 0.062
117
AND001 Anodontia 44 0.062
118
INT063 Intellectual Disability 42 0.062
119
HYP264 Hypertonia 34 0.062
120
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 31 0.062
121
MCR029 Micro Syndrome 31 0.062
122
MNT014 Mental Retardation Epilepsy 26 0.062
123
6Q1001 6q16 Deletion Syndrome 24 0.062
124
WTS001 Watson Syndrome 23 0.062
125
16Q001 16q24.3 Microdeletion Syndrome 23 0.062
126
c MLT031 Multiple Epiphyseal Dysplasia, Recessive 11 0.062
127
c BRC033 Brachydactyly Type A3 7 0.062
128
P OST002 Osteoporosis 73 0.051
129
ATS001 Autistic Disorder 71 0.051
130
CST001 Costello Syndrome 71 0.051
131
P ANG001 Angelman Syndrome 67 0.051
132
DFC004 Deficiency Anemia 65 0.051
133
STT001 Status Epilepticus 64 0.051
134
SPN038 Spina Bifida 63 0.051
135
KLP002 Klippel-Trenaunay Syndrome 60 0.051
136
ALP008 Alopecia 59 0.051
137
P VCT001 Vacterl Association 59 0.051
138
P CTS001 Cutis Laxa 59 0.051
139
CRB021 Cerebral Malaria 58 0.051
140
SMT015 Smith Magenis Syndrome 58 0.051
141
LGG001 Legg-Calve-Perthes Disease 56 0.051
142
OST011 Osteomalacia 56 0.051
143
MYC002 Mycobacterium Avium Complex Disease 56 0.051
144
MNK003 Muenke Syndrome 54 0.051
145
ARC007 Arachnoid Cysts 52 0.051
146
FNC044 Fanconi Anemia, Complementation Group C 51 0.051
147
c TRM003 Tremor 50 0.051
148
HMM003 Hemimegalencephaly 50 0.051
149
P THR090 Thrombocythemia 1 48 0.051
150
c BRC006 Brachydactyly 48 0.051
151
HMP005 Hemiplegia 47 0.051
152
TRP014 Triploidy 46 0.051
153
GRG001 Greig Cephalopolysyndactyly Syndrome 46 0.051
154
AMB002 Amblyopia 46 0.051
155
P STS001 Sotos Syndrome 46 0.051
156
P PLY024 Polymicrogyria 45 0.051
157
P THN004 Thanatophoric Dysplasia Type 1 45 0.051
158
TRC040 Tracheoesophageal Fistula 44 0.051
159
INT191 Intestinal Lymphangiectasia 43 0.051
160
SGT001 Sagittal Sinus Thrombosis 43 0.051
161
c MCR103 Microtia 40 0.051
162
INC001 Incontinentia Pigmenti Achromians 39 0.051
163
P OST051 Osteopetrosis Autosomal Recessive 1 38 0.051
164
c MYP006 Myopia 36 0.051
165
P 2Q3002 2q37 Microdeletion Syndrome 34 0.051
166
CNT056 Cantu Syndrome 30 0.051
167
PTN006 Pten Hamartoma Tumor Syndrome 30 0.051
168
P ACH009 Achondrogenesis Type Ib 27 0.051
169
OST098 Osteopathia Striata Cranial Sclerosis 27 0.051
170
OPS002 Opsismodysplasia 26 0.051
171
PSD008 Pseudopapilledema 23 0.051
172
P CHR225 Chromosome 1q21.1 Duplication Syndrome 22 0.051
173
MNS009 Monosomy 13q14 22 0.051
174
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 22 0.051
175
ANR019 Anorectal Atresia 19 0.051
176
P 19P001 19p13.12 Microdeletion Syndrome 19 0.051
177
21Q002 21q22.13q22.2 Microdeletion Syndrome 14 0.051
178
P AMY001 Amyotrophic Lateral Sclerosis 87 0.036
179
P NRF002 Neurofibromatosis 86 0.036
180
ACH004 Achondroplasia 77 0.036
181
P HYP075 Hypertension 76 0.036
182
ACR007 Acromegaly 75 0.036
183
MCC001 Mccune Albright Syndrome 71 0.036
184
MNK001 Menkes Disease 71 0.036
185
P RTN024 Retinoblastoma 70 0.036
186
P PRD006 Prader-Willi Syndrome 69 0.036
187
ACT074 Acute Lymphocytic Leukemia 69 0.036
188
P NJM001 Nijmegen Breakage Syndrome 69 0.036
189
CLD001 Cleidocranial Dysplasia 68 0.036
190
HYP056 Hypoglycemia 66 0.036
191
P RCK004 Rickets 65 0.036
192
ANT006 Antiphospholipid Syndrome 64 0.036
193
SKN016 Skin Disease 64 0.036
194
ART019 Aortic Valve Stenosis 64 0.036
195
WST001 West Syndrome 64 0.036
196
c PRM002 Primary Hyperoxaluria 63 0.036
197
HYP042 Hypochondroplasia 62 0.036
198
HMN010 Hemangioma 62 0.036
199
CHR029 Choroid Plexus Papilloma 61 0.036
200
P CRD013 Cardiofaciocutaneous Syndrome 61 0.036
201
DMN001 Diamond-Blackfan Anemia 61 0.036
202
P NRB001 Neuroblastoma 60 0.036
203
P DWR001 Dwarfism 59 0.036
204
P TYS001 Tay-Sachs Disease 58 0.036
205
DST005 Diastrophic Dysplasia 58 0.036
206
P CNV004 Canavan Disease 58 0.036
207
FCL008 Focal Glomerulosclerosis 57 0.036
208
P FRG001 Fragile X Syndrome 57 0.036
209
P HYP040 Hypospadias 56 0.036
210
CLB001 Coloboma 56 0.036
211
P CMP005 Campomelic Dysplasia 56 0.036
212
SND001 Sandhoff Disease 56 0.036
213
c EMR001 Emery-Dreifuss Muscular Dystrophy 56 0.036
214
TTR001 Tetralogy of Fallot 55 0.036
215
P SHR029 Short Syndrome 55 0.036
216
THR009 Thrombocytopenia-Absent Radius Syndrome 55 0.036
217
MCK007 Muckle-Wells Syndrome 55 0.036
218
P CNG001 Congenital Myasthenic Syndrome 55 0.036
219
c MCP009 Mucopolysaccharidosis Ii 54 0.036
220
HYP080 Hypogonadism 54 0.036
221
c BLN003 Blindness 54 0.036
222
ESP020 Esophageal Atresia 54 0.036
223
INT075 Intracranial Hypertension 53 0.036
224
CHR282 Chronic Infantile Neurological Cutaneous Articular Syndrome 53 0.036
225
c MCR013 Microphthalmia 53 0.036
226
c TRT010 Teratoma 53 0.036
227
ACR008 Acrocallosal Syndrome 53 0.036
228
P LKD001 Leukodystrophy 53 0.036
229
c CNT035 Central Nervous System Disease 52 0.036
230
ART001 Arterial Tortuosity Syndrome 52 0.036
231
MTT005 Matthew-Wood Syndrome 52 0.036
232
P WVR001 Weaver Syndrome 51 0.036
233
c SYN005 Synostosis 51 0.036
234
P ESP024 Esophagitis 51 0.036
235
HJD001 Hajdu-Cheney Syndrome 50 0.036
236
LPC002 Lip Cancer 50 0.036
237
VGN023 Vaginitis 50 0.036
238
PRM027 Primitive Neuroectodermal Tumor 50 0.036
239
P LYM025 Lymphedema 49 0.036
240
P CTN014 Cutaneous Mastocytosis 49 0.036
241
MLB001 Mulibrey Nanism 48 0.036
242
HWK001 Hawkinsinuria 47 0.036
243
BRJ001 Borjeson-Forssman-Lehmann Syndrome 47 0.036
244
SCH018 Schizencephaly 47 0.036
245
MTC007 Mitochondrial Complex I Deficiency 46 0.036
246
END020 Endocardial Fibroelastosis 46 0.036
247
CRB088 Cerebral Atrophy 46 0.036
248
c MCP004 Mucopolysaccharidosis Iv 45 0.036
249
OLG003 Oligohydramnios 45 0.036
250
c CTN021 Cutaneous Malignant Melanoma 45 0.036
251
MCS001 Mucosulfatidosis 43 0.036
252
LGS001 Legius Syndrome 42 0.036
253
CCH002 Coach Syndrome 42 0.036
254
CHR101 Char Syndrome 42 0.036
255
PGT004 Paget Disease, Juvenile 41 0.036
256
JVN016 Juvenile Hyaline Fibromatosis 40 0.036
257
P MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 40 0.036
258
P GLT012 Glutaric Acidemia Type I 40 0.036
259
CRN014 Cronkhite-Canada Syndrome 40 0.036
260
CNG219 Congenital Aural Atresia 39 0.036
261
FGS001 Fg Syndrome 39 0.036
262
ANG037 Angiomatosis 37 0.036
263
DMN023 Diamond-Blackfan Anemia 1 36 0.036
264
c BRC013 Brachydactyly Type E 36 0.036
265
P L2H001 L-2-Hydroxyglutaric Aciduria 36 0.036
266
SHR010 Short Rib-Polydactyly Syndrome Type 3 35 0.036
267
PHL006 Phelan-Mcdermid Syndrome 35 0.036
268
P PRX064 Peroxisome Biogenesis Disorder 2b 35 0.036
269
CRB002 Cerebral Primitive Neuroectodermal Tumor 34 0.036
270
EMN001 Emanuel Syndrome 34 0.036
271
P RBN011 Robinow Syndrome, Autosomal Dominant 34 0.036
272
LJN002 Lujan Syndrome 34 0.036
273
P SPN121 Spondylocostal Dysostosis 1 33 0.036
274
DNN002 Donnai-Barrow Syndrome 33 0.036
275
PNT019 Pontocerebellar Hypoplasia 32 0.036
276
P SMP004 Simpson-Golabi-Behmel Syndrome Type 1 32 0.036
277
TTH001 Tooth Ankylosis 31 0.036
278
P ANN001 Anonychia Congenita 31 0.036
279
ENC010 Encephalocraniocutaneous Lipomatosis 31 0.036
280
c OST108 Osteogenesis Imperfecta Type Xiii 31 0.036
281
c RBN009 Robinow Syndrome, Autosomal Recessive 29 0.036
282
c ACH008 Achondrogenesis Type Ia 29 0.036
283
BDY001 Body Dysmorphic Disorder 29 0.036
284
c THN002 Thanatophoric Dysplasia Type 2 29 0.036
285
c MCP012 Mucopolysaccharidosis Ih 28 0.036
286
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 28 0.036
287
NNT023 Neonatal Progeroid Syndrome 27 0.036
288
ART007 Aorta Atresia 26 0.036
289
c STS008 Sotos Syndrome 1 26 0.036
290
c 2P2001 2p21 Microdeletion Syndrome 25 0.036
291
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 24 0.036
292
SCH030 Schneckenbecken Dysplasia 24 0.036
293
TMT003 Temtamy Syndrome 24 0.036
294
ANT054 Anotia 23 0.036
295
c OST050 Osteopetrosis Autosomal Dominant Type 2 23 0.036
296
DSM002 Desmosterolosis 22 0.036
297
P CHR259 Chromosome 6q25 Microdeletion Syndrome 22 0.036
298
MCR105 Macrostomia 22 0.036
299
CRN013 Craniodiaphyseal Dysplasia 21 0.036
300
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 21 0.036
301
P DND007 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 21 0.036
302
DYS045 Dysosteosclerosis 21 0.036
303
c MNN025 Mannosidosis, Alpha-, Types I and Ii 20 0.036
304
CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 20 0.036
305
c CNG085 Congenital Disorder of Glycosylation Type 2d 20 0.036
306
ATR055 Atrial Septal Aneurysm 20 0.036
307
c CHR224 Chromosome 1q Duplication 20 0.036
308
15Q004 15q11q13 Microduplication Syndrome 19 0.036
309
P SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 19 0.036
310
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 19 0.036
311
P FRN037 Frontal Encephalocele 19 0.036
312
LNZ002 Lenz Majewski Hyperostotic Dwarfism 19 0.036
313
c KRN003 Kernicterus Due to Isoimmunization 18 0.036
314
LBN004 Liebenberg Syndrome 18 0.036
315
CRB076 Cerebro Facio Thoracic Dysplasia 18 0.036
316
LMB011 Limb Deficiencies Distal with Micrognathia 18 0.036
317
FNT003 Fountain Syndrome 17 0.036
318
P AGN008 Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia 17 0.036
319
c CRN217 Craniosynostosis 3 17 0.036
320
CRN083 Craniofacial Dyssynostosis 17 0.036
321
XLN064 X-Linked Syndromic Mental Retardation, Claes-Jensen Type 17 0.036
322
CRB024 Cerebral Neuroblastoma 17 0.036
323
CHR246 Chromosome 3q29 Microduplication Syndrome 17 0.036
324
c BNG076 Benign Exophthalmos Syndrome 17 0.036
325
c 5P1001 5p13 Microduplication Syndrome 17 0.036
326
c MCR163 Microphthalmia with Linear Skin Defects Syndrome 16 0.036
327
MGL019 Megalocornea-Intellectual Deficit Syndrome 16 0.036
328
P SPN181 Spondylocostal Dysostosis, Autosomal Dominant 16 0.036
329
OCL039 Oculoectodermal Syndrome 16 0.036
330
FGS002 Fg Syndrome 2 16 0.036
331
BBB001 Bobble-Head Doll Syndrome 16 0.036
332
SMM003 Summitt Syndrome 15 0.036
333
CLP002 Colpocephaly 15 0.036
334
ATK001 Atkin Syndrome 15 0.036
335
SDD004 Sudden Arrhythmia Death Syndrome 15 0.036
336
c MLT043 Multiple Epiphyseal Dysplasia 1 15 0.036
337
ACR002 Acrocapitofemoral Dysplasia 14 0.036
338
P MNT109 Mental Retardation, X-Linked, Syndromic 15 14 0.036
339
c CHR215 Chromosome 19p Deletion 14 0.036
340
NSD003 Nasodigitoacoustic Syndrome 13 0.036
341
c 3Q1001 3q13 Microdeletion Syndrome 13 0.036
342
PYK001 Pyknoachondrogenesis 13 0.036
343
CRN087 Craniomicromelic Syndrome 13 0.036
344
MGL006 Megalocornea Mental Retardation Syndrome 12 0.036
345
HYD023 Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 12 0.036
346
EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 12 0.036
347
PRX069 Proximal 16p11.2 Microdeletion Syndrome 12 0.036
348
LNR012 Linear Verrucous Nevus Syndrome 12 0.036
349
MSC026 Muscular Dystrophy White Matter Spongiosis 12 0.036
350
c MNS011 Monosomy 9q22.3 12 0.036
351
RDL023 Radio-Ulnar Synostosis - Intellectual Deficit - Hypotonia 11 0.036
352
OST047 Osteopenia and Sparse Hair 11 0.036
353
20P001 20p12.3 Microdeletion Syndrome 11 0.036
354
c SVR048 Severe Canavan Disease 11 0.036
355
INT170 Intellectual Deficit - Cataracts - Calcified Pinnae - Myopathy 11 0.036
356
c CHR252 Chromosome 5p Duplication 11 0.036
357
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 11 0.036
358
INT194 Intellectual Deficit, X-Linked, Armfield Type 10 0.036
359
1Q2002 1q21.1 Deletion 10 0.036
360
SGM007 Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus 10 0.036
361
c SPN113 Spinocerebellar Ataxia with Dysmorphism 10 0.036
362
DST055 Distal 22q11.2 Microduplication Syndrome 10 0.036
363
ERL015 Early-Onset Parkinsonism - Intellectual Deficit 9 0.036
364
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 9 0.036
365
c MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 9 0.036
366
MTP019 Metaphyseal Dysostosis - Intellectual Deficit - Conductive Deafness 9 0.036
367
ECT053 Ectodermal Dysplasia - Intellectual Deficit - Central Nervous System Malformation 8 0.036
368
SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 8 0.036
369
INT157 Intellectual Deficit, X-Linked - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures 8 0.036
370
OST100 Osteosclerosis - Developmental Delay - Craniosynostosis 8 0.036
371
GNG024 Gingival Fibromatosis - Facial Dysmorphism 8 0.036
372
LTH005 Lethal Chondrodysplasia Moerman Type 8 0.036
373
CRB071 Cerebral Gigantism Jaw Cysts 7 0.036
374
THN008 Thin Ribs - Tubular Bones - Dysmorphism 7 0.036
375
c RBN010 Robinow-Like Syndrome 7 0.036
376
EPM003 Epimetaphyseal Skeletal Dysplasia 6 0.036
377
TRP011 Triopia 6 0.036
378
ISL030 Isolated Cerebellar Hypoplasia/agenesis 5 0.036
379
CRN203 Craniometadiaphyseal Dysplasia, Wormian Bone Type 5 0.036
380
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 5 0.036