Search results for "macrocephaly"

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

335 hits were found for 'macrocephaly'

# Family MCID Name MIFTS Score
1
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 22 3.955
2
MCR096 Macrocephaly/autism Syndrome 17 3.941
3
MCR168 Macrocephaly - Spastic Paraplegia - Dysmorphism 14 3.613
4
MMS001 Momo Syndrome 25 3.317
5
MCR031 Macrocephaly, Benign Familial 7 3.217
6
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 4 3.217
7
MCR033 Macrocephaly-Capillary Malformation 14 2.976
8
DND011 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia and Brachytelephalangy 4 2.824
9
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 4 2.824
10
ZRS001 Zori Stalker Williams Syndrome 14 2.807
11
FCL035 Facial Dysmorphism - Macrocephaly - Myopia - Dandy-Walker Malformation 14 2.807
12
MCR221 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 11 2.786
13
INT251 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome 5 2.786
14
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 62 2.337
15
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 30 2.337
16
P PRT008 Proteus Syndrome 57 2.319
17
MCR174 Macrocephaly - Short Stature - Paraplegia 12 2.319
18
DND008 Dandy-Walker Malformation Associated with Macrocephaly, Facial Anomalies, Developmental Delay, and Brain Stem Dysgenesis 4 2.319
19
XLN139 X-Linked Intellectual Disability - Macrocephaly - Macroorchidism 15 2.299
20
MGL021 Megalencephaly-Capillary Malformation Syndrome 11 2.299
21
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 5 2.299
22
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 5 2.299
23
MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 3 2.299
24
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 24 2.275
25
OST102 Osteoporosis - Macrocephaly - Blindness - Joint Hyperlaxity 10 2.275
26
BGT001 Bagatelle Cassidy Syndrome 4 2.275
27
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 4 2.275
28
MCR198 Macrocephaly - Immune Deficiency - Anemia 4 2.275
29
XLN153 X-Linked Recessive Intellectual Disability - Macrocephaly - Ciliary Dysfunction 3 2.275
30
PRT093 Proteus Syndrome, Somatic 45 1.640
31
KNS002 Kniest Like Dysplasia Lethal 18 1.640
32
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 17 1.640
33
MLT096 Multiple Epiphyseal Dysplasia, Al-Gazali Type 15 1.640
34
c MNT216 Mental Retardation, Autosomal Recessive 41 13 1.640
35
HYP461 Hypocomplementemic Urticarial Vasculitis Syndrome 33 1.609
36
MCD001 Mac Dermot Winter Syndrome 18 1.609
37
c FCS008 Fucosidosis Type 1 7 1.609
38
CLR029 Clark-Baraitser Syndrome 6 1.609
39
CTS011 Cutis Marmorata Telangiectatica Congenita 44 0.196
40
MNT147 Mental Retardation 51 0.136
41
NRN002 Neuronitis 43 0.113
42
P OBS005 Obesity 89 0.100
43
P HYD006 Hydrocephalus 68 0.100
44
LRN003 Learning Disability 62 0.092
45
P INT063 Intellectual Disability 50 0.092
46
SYN053 Syndromic Diarrhea 32 0.092
47
P MLT007 Multiple Epiphyseal Dysplasia 73 0.084
48
P SHR002 Short Stature 64 0.084
49
P ATS007 Autism Spectrum Disorder 59 0.076
50
MCR010 Microcephaly 54 0.076
51
c SYN001 Syndactyly 50 0.076
52
SCH016 Schimke Immunoosseous Dysplasia 46 0.076
53
MGL013 Megalencephaly 45 0.076
54
TTR016 Tetra-Amelia Syndrome 41 0.076
55
HYP265 Hypotonia 41 0.076
56
SPS057 Spasticity 37 0.076
57
TTR001 Tetralogy of Fallot 74 0.065
58
HMH002 Hemihypertrophy 64 0.065
59
MTC007 Mitochondrial Complex I Deficiency 58 0.065
60
P CWD006 Cowden Syndrome 1 58 0.065
61
P DND001 Dandy-Walker Syndrome 57 0.065
62
P PLY006 Polydactyly 56 0.065
63
c OPT004 Optic Atrophy 50 0.065
64
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 49 0.065
65
P OP3001 Opa3-Related 3-Methylglutaconic Aciduria 47 0.065
66
PRP016 Paraplegia 47 0.065
67
MGL022 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 41 0.065
68
CRB009 Cerebritis 39 0.065
69
OPS002 Opsismodysplasia 38 0.065
70
HYP264 Hypertonia 35 0.065
71
MGL025 Megalencephaly, Autosomal Recessive 26 0.065
72
WTS001 Watson Syndrome 21 0.065
73
P FCL005 Focal Segmental Glomerulosclerosis 72 0.053
74
P ANG001 Angelman Syndrome 70 0.053
75
KLP002 Klippel-Trenaunay Syndrome 67 0.053
76
STT001 Status Epilepticus 65 0.053
77
CST001 Costello Syndrome 64 0.053
78
P HLP001 Holoprosencephaly 64 0.053
79
MNK003 Muenke Syndrome 63 0.053
80
DFC004 Deficiency Anemia 62 0.053
81
ARC007 Arachnoid Cysts 61 0.053
82
SNG010 Single Median Maxillary Central Incisor 60 0.053
83
P THN004 Thanatophoric Dysplasia Type 1 59 0.053
84
ALP008 Alopecia 56 0.053
85
c CTS001 Cutis Laxa 55 0.053
86
HMM003 Hemimegalencephaly 55 0.053
87
c TRM003 Tremor 55 0.053
88
c BRC006 Brachydactyly 55 0.053
89
PLY012 Polyhydramnios 54 0.053
90
TRP014 Triploidy 52 0.053
91
HMP005 Hemiplegia 52 0.053
92
THR013 Thoracic Outlet Syndrome 52 0.053
93
c INT191 Intestinal Lymphangiectasia 50 0.053
94
P L2H001 L-2-Hydroxyglutaric Aciduria 50 0.053
95
c STS001 Sotos Syndrome 49 0.053
96
SGT001 Sagittal Sinus Thrombosis 49 0.053
97
c GGN002 Gigantism 47 0.053
98
CNT056 Cantu Syndrome 47 0.053
99
EPL002 Epilepsy Syndrome 45 0.053
100
P OST051 Osteopetrosis Autosomal Recessive 1 45 0.053
101
ARC002 Arachnoiditis 45 0.053
102
INC001 Incontinentia Pigmenti Achromians 43 0.053
103
P ACH009 Achondrogenesis Type Ib 40 0.053
104
c MYP006 Myopia 40 0.053
105
PLY024 Polymicrogyria 39 0.053
106
OST098 Osteopathia Striata Cranial Sclerosis 33 0.053
107
P MYP018 Myopia 6 30 0.053
108
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 30 0.053
109
PSL001 Pasli Disease 27 0.053
110
PSD008 Pseudopapilledema 20 0.053
111
c CHR225 Chromosome 1q21.1 Duplication Syndrome 20 0.053
112
P AMY001 Amyotrophic Lateral Sclerosis 98 0.038
113
P NRF002 Neurofibromatosis 93 0.038
114
P HYP075 Hypertension 85 0.038
115
P TYS001 Tay-Sachs Disease 82 0.038
116
P RTN024 Retinoblastoma 81 0.038
117
ACH004 Achondroplasia 78 0.038
118
CLD001 Cleidocranial Dysplasia 77 0.038
119
MCC001 Mccune Albright Syndrome 76 0.038
120
P OST002 Osteoporosis 75 0.038
121
SKN016 Skin Disease 75 0.038
122
ANK002 Ankylosing Spondylitis 74 0.038
123
MNK001 Menkes Disease 73 0.038
124
P FRG001 Fragile X Syndrome 73 0.038
125
c PRM002 Primary Hyperoxaluria 72 0.038
126
P CRD013 Cardiofaciocutaneous Syndrome 72 0.038
127
c CWD001 Cowden Disease 71 0.038
128
PRT036 Peritonitis 71 0.038
129
P PRD006 Prader-Willi Syndrome 71 0.038
130
ATS001 Autistic Disorder 71 0.038
131
CHR029 Choroid Plexus Papilloma 70 0.038
132
P NRB001 Neuroblastoma 70 0.038
133
P HMN010 Hemangioma 70 0.038
134
HYP042 Hypochondroplasia 69 0.038
135
P NJM001 Nijmegen Breakage Syndrome 69 0.038
136
SPN038 Spina Bifida 67 0.038
137
NVD001 Nevoid Basal Cell Carcinoma Syndrome 66 0.038
138
MCK007 Muckle-Wells Syndrome 66 0.038
139
P CNV004 Canavan Disease 66 0.038
140
LGG001 Legg-Calve-Perthes Disease 65 0.038
141
P FNC001 Fanconi's Anemia 65 0.038
142
ANT006 Antiphospholipid Syndrome 65 0.038
143
CMP005 Campomelic Dysplasia 65 0.038
144
P RCK004 Rickets 64 0.038
145
P MCP004 Mucopolysaccharidosis Iv 64 0.038
146
ART019 Aortic Valve Stenosis 64 0.038
147
CLB001 Coloboma 64 0.038
148
SND001 Sandhoff Disease 63 0.038
149
P ESP024 Esophagitis 63 0.038
150
MTT005 Matthew-Wood Syndrome 63 0.038
151
HYP056 Hypoglycemia 63 0.038
152
VGN023 Vaginitis 62 0.038
153
VCT001 Vacterl Association 61 0.038
154
P SCH018 Schizencephaly 61 0.038
155
CTN014 Cutaneous Mastocytosis 61 0.038
156
PRM027 Primitive Neuroectodermal Tumor 60 0.038
157
OLG003 Oligohydramnios 59 0.038
158
ACR008 Acrocallosal Syndrome 59 0.038
159
c DYS154 Dystonia 59 0.038
160
JCB001 Jacobsen Syndrome 59 0.038
161
P HYP080 Hypogonadism 59 0.038
162
CRB021 Cerebral Malaria 59 0.038
163
c DMN001 Diamond-Blackfan Anemia 59 0.038
164
HWK001 Hawkinsinuria 58 0.038
165
MYC002 Mycobacterium Avium Complex Disease 58 0.038
166
DST005 Diastrophic Dysplasia 58 0.038
167
P FNC044 Fanconi Anemia, Complementation Group C 57 0.038
168
ESP020 Esophageal Atresia 57 0.038
169
SCN006 Secondary Syphilis 57 0.038
170
ANK001 Ankylosis 57 0.038
171
c MCP009 Mucopolysaccharidosis Ii 56 0.038
172
SMT015 Smith Magenis Syndrome 56 0.038
173
BRJ001 Borjeson-Forssman-Lehmann Syndrome 56 0.038
174
P WVR001 Weaver Syndrome 56 0.038
175
MCR103 Microtia 55 0.038
176
MLB001 Mulibrey Nanism 55 0.038
177
MCS001 Mucosulfatidosis 55 0.038
178
P HYP040 Hypospadias 55 0.038
179
c TRT010 Teratoma 55 0.038
180
P DWR001 Dwarfism 55 0.038
181
c SYN005 Synostosis 54 0.038
182
ART001 Arterial Tortuosity Syndrome 54 0.038
183
CCH002 Coach Syndrome 53 0.038
184
c LYM025 Lymphedema 53 0.038
185
GRG001 Greig Cephalopolysyndactyly Syndrome 53 0.038
186
END020 Endocardial Fibroelastosis 53 0.038
187
BLN003 Blindness 52 0.038
188
LKD001 Leukodystrophy 52 0.038
189
P MCR013 Microphthalmia 52 0.038
190
OST011 Osteomalacia 52 0.038
191
INT075 Intracranial Hypertension 51 0.038
192
P MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 50 0.038
193
CRN014 Cronkhite-Canada Syndrome 50 0.038
194
P CNG001 Congenital Myasthenic Syndrome 50 0.038
195
JVN016 Juvenile Hyaline Fibromatosis 50 0.038
196
HJD001 Hajdu-Cheney Syndrome 50 0.038
197
AMB002 Amblyopia 49 0.038
198
c CNT035 Central Nervous System Disease 49 0.038
199
TRC040 Tracheoesophageal Fistula 48 0.038
200
PGT004 Paget Disease, Juvenile 48 0.038
201
P GLT012 Glutaric Acidemia Type I 48 0.038
202
IMP002 Imperforate Anus 48 0.038
203
RVL002 Ruvalcaba Syndrome 45 0.038
204
c BRC013 Brachydactyly Type E 45 0.038
205
ANR040 Aneurysm 44 0.038
206
CRB088 Cerebral Atrophy 44 0.038
207
P PRX064 Peroxisome Biogenesis Disorder 2b 44 0.038
208
P SMP004 Simpson-Golabi-Behmel Syndrome Type 1 44 0.038
209
c MCP012 Mucopolysaccharidosis Ih 44 0.038
210
CHR282 Chronic Infantile Neurological Cutaneous Articular Syndrome 42 0.038
211
CRB002 Cerebral Primitive Neuroectodermal Tumor 42 0.038
212
c ACH008 Achondrogenesis Type Ia 41 0.038
213
c OST108 Osteogenesis Imperfecta Type Xiii 41 0.038
214
P SPN121 Spondylocostal Dysostosis 1 40 0.038
215
RHB022 Rhabdoid Tumors, Somatic 40 0.038
216
c PNT019 Pontocerebellar Hypoplasia 40 0.038
217
TTH016 Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 40 0.038
218
PHL006 Phelan-Mcdermid Syndrome 40 0.038
219
CRB045 Cerebellar Hypoplasia 39 0.038
220
SKL017 Skeletal Dysplasias 39 0.038
221
AND001 Anodontia 39 0.038
222
c THN002 Thanatophoric Dysplasia Type 2 38 0.038
223
LGS001 Legius Syndrome 38 0.038
224
DNN002 Donnai-Barrow Syndrome 38 0.038
225
ANG037 Angiomatosis 38 0.038
226
c JVN024 Juvenile Hereditary Hemochromatosis 38 0.038
227
TTH001 Tooth Ankylosis 38 0.038
228
LJN002 Lujan Syndrome 37 0.038
229
IPX001 Ipex Syndrome 37 0.038
230
ANN001 Anonychia Congenita 35 0.038
231
ENP001 Enophthalmos 35 0.038
232
ENC010 Encephalocraniocutaneous Lipomatosis 35 0.038
233
SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 35 0.038
234
P 2Q3002 2q37 Microdeletion Syndrome 35 0.038
235
P STS008 Sotos Syndrome 1 35 0.038
236
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 34 0.038
237
15Q001 15q13.3 Microdeletion 33 0.038
238
NNT023 Neonatal Progeroid Syndrome 33 0.038
239
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 32 0.038
240
BDY001 Body Dysmorphic Disorder 32 0.038
241
SCH030 Schneckenbecken Dysplasia 32 0.038
242
P RBN011 Robinow Syndrome, Autosomal Dominant 32 0.038
243
c MNN025 Mannosidosis, Alpha-, Types I and Ii 31 0.038
244
c OST050 Osteopetrosis Autosomal Dominant Type 2 31 0.038
245
CRN013 Craniodiaphyseal Dysplasia 31 0.038
246
P ANP018 Anophthalmia Plus Syndrome 31 0.038
247
c RBN009 Robinow Syndrome, Autosomal Recessive 31 0.038
248
DSM002 Desmosterolosis 31 0.038
249
DND010 Dandy-Walker Malformation with Mental Retardation Basal Ganglia Disease and Seizures 31 0.038
250
c PNT010 Pontocerebellar Hypoplasia Type 1 29 0.038
251
c CNG085 Congenital Disorder of Glycosylation Type 2d 29 0.038
252
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 29 0.038
253
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 29 0.038
254
12Q002 12q14 Microdeletion Syndrome 28 0.038
255
LNZ002 Lenz Majewski Hyperostotic Dwarfism 28 0.038
256
ANT054 Anotia 27 0.038
257
DND007 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 26 0.038
258
DYS045 Dysosteosclerosis 26 0.038
259
3Q2001 3q29 Deletion Syndrome 26 0.038
260
c CRN217 Craniosynostosis 3 26 0.038
261
XLN064 X-Linked Syndromic Mental Retardation, Claes-Jensen Type 25 0.038
262
P SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 25 0.038
263
MCR105 Macrostomia 25 0.038
264
TMT003 Temtamy Syndrome 25 0.038
265
LMB011 Limb Deficiencies Distal with Micrognathia 23 0.038
266
AGN008 Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia 23 0.038
267
c FRN037 Frontal Encephalocele 23 0.038
268
ATR055 Atrial Septal Aneurysm 23 0.038
269
LBN004 Liebenberg Syndrome 23 0.038
270
FNT003 Fountain Syndrome 22 0.038
271
CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 22 0.038
272
ART007 Aorta Atresia 22 0.038
273
c BNG076 Benign Exophthalmos Syndrome 22 0.038
274
MCR163 Microphthalmia with Linear Skin Defects Syndrome 22 0.038
275
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 22 0.038
276
CRN083 Craniofacial Dyssynostosis 22 0.038
277
c MLG049 Malignant Syringoma 21 0.038
278
c CHR224 Chromosome 1q Duplication 21 0.038
279
P SPN274 Spondylocostal Dysostosis 5, Autosomal Dominant 21 0.038
280
c 3Q1001 3q13 Microdeletion Syndrome 21 0.038
281
OCL039 Oculoectodermal Syndrome 21 0.038
282
ACR002 Acrocapitofemoral Dysplasia 21 0.038
283
SMM003 Summitt Syndrome 20 0.038
284
ANR019 Anorectal Atresia 20 0.038
285
P MNT109 Mental Retardation, X-Linked, Syndromic 15 20 0.038
286
CHR246 Chromosome 3q29 Microduplication Syndrome 20 0.038
287
CMM015 Commissural Facial Cleft 19 0.038
288
NSD003 Nasodigitoacoustic Syndrome 19 0.038
289
PYK001 Pyknoachondrogenesis 19 0.038
290
CRN087 Craniomicromelic Syndrome 19 0.038
291
HYD023 Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 19 0.038
292
SGM007 Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus 19 0.038
293
MGL027 Megalocornea-Intellectual Disability Syndrome 18 0.038
294
c CHR252 Chromosome 5p Duplication 18 0.038
295
INT238 Intellectual Disability - Cataracts - Calcified Pinnae - Myopathy 18 0.038
296
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 18 0.038
297
15Q004 15q11q13 Microduplication Syndrome 18 0.038
298
BBB001 Bobble-Head Doll Syndrome 18 0.038
299
CLP002 Colpocephaly 17 0.038
300
EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 17 0.038
301
OST047 Osteopenia and Sparse Hair 17 0.038
302
ATK001 Atkin Syndrome 17 0.038
303
c MNS011 Monosomy 9q22.3 16 0.038
304
XLN129 X-Linked Intellectual Disability, Armfield Type 16 0.038
305
MSC026 Muscular Dystrophy White Matter Spongiosis 16 0.038
306
ECT071 Ectodermal Dysplasia - Intellectual Disability - Central Nervous System Malformation 16 0.038
307
6Q1001 6q16 Deletion Syndrome 16 0.038
308
RDL024 Radio-Ulnar Synostosis - Intellectual Disability - Hypotonia 16 0.038
309
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 16 0.038
310
OTP003 Oto-Palatal-Digital Syndrome 16 0.038
311
20P001 20p12.3 Microdeletion Syndrome 15 0.038
312
SPN113 Spinocerebellar Ataxia with Dysmorphism 15 0.038
313
c BRC033 Brachydactyly Type A3 15 0.038
314
PRX069 Proximal 16p11.2 Microdeletion Syndrome 15 0.038
315
FGS002 Fg Syndrome 2 15 0.038
316
c SVR048 Severe Canavan Disease 15 0.038
317
DST055 Distal 22q11.2 Microduplication Syndrome 15 0.038
318
10Q001 10q22.3q23.3 Microdeletion Syndrome 15 0.038
319
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 15 0.038
320
LTH005 Lethal Chondrodysplasia Moerman Type 15 0.038
321
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 14 0.038
322
ERL022 Early-Onset Parkinsonism - Intellectual Disability 14 0.038
323
LNR012 Linear Verrucous Nevus Syndrome 14 0.038
324
MTP024 Metaphyseal Dysostosis - Intellectual Disability - Conductive Deafness 13 0.038
325
CRB071 Cerebral Gigantism Jaw Cysts 13 0.038
326
SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 13 0.038
327
1Q2002 1q21.1 Deletion 13 0.038
328
ISL030 Isolated Cerebellar Hypoplasia/agenesis 12 0.038
329
THN008 Thin Ribs - Tubular Bones - Dysmorphism 12 0.038
330
OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 11 0.038
331
GNG024 Gingival Fibromatosis - Facial Dysmorphism 11 0.038
332
TRP011 Triopia 10 0.038
333
CRN203 Craniometadiaphyseal Dysplasia, Wormian Bone Type 10 0.038
334
EPM003 Epimetaphyseal Skeletal Dysplasia 10 0.038
335
c RBN010 Robinow-Like Syndrome 10 0.038