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

327 hits were found for 'macrocephaly'

# Family MCID Name MIFTS Score
1
MCR096 Macrocephaly/autism Syndrome 25 3.985
2
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 21 3.985
3
MCR168 Macrocephaly - Spastic Paraplegia - Dysmorphism 14 3.654
4
MMS001 Momo Syndrome 21 3.330
5
MCR031 Macrocephaly, Benign Familial 5 3.254
6
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 3 3.254
7
DND011 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia and Brachytelephalangy 2 2.856
8
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 2 2.856
9
FCL035 Facial Dysmorphism - Macrocephaly - Myopia - Dandy-Walker Malformation 14 2.838
10
ZRS001 Zori Stalker Williams Syndrome 13 2.838
11
MCR221 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 10 2.818
12
MCR033 Macrocephaly-Capillary Malformation 8 2.818
13
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 68 2.488
14
MCR174 Macrocephaly - Short Stature - Paraplegia 12 2.445
15
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 3 2.445
16
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 33 2.408
17
P PRT008 Proteus Syndrome 56 2.363
18
MGL021 Megalencephaly-Capillary Malformation Syndrome 13 2.345
19
DND008 Dandy-Walker Malformation Associated with Macrocephaly, Facial Anomalies, Developmental Delay, and Brain Stem Dysgenesis 3 2.345
20
INT206 Intellectual Deficit, X-Linked - Macrocephaly - Macro-Orchidism 13 2.325
21
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 7 2.325
22
MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 1 2.325
23
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 24 2.301
24
OST102 Osteoporosis - Macrocephaly - Blindness - Joint Hyperlaxity 10 2.301
25
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 5 2.301
26
MCR198 Macrocephaly - Immune Deficiency - Anemia 4 2.301
27
BGT001 Bagatelle Cassidy Syndrome 3 2.301
28
XLN095 X-Linked Recessive Intellectual Deficit - Macrocephaly - Ciliary Dysfunction 3 2.301
29
HYP461 Hypocomplementemic Urticarial Vasculitis Syndrome 27 1.873
30
MCD001 Mac Dermot Winter Syndrome 21 1.825
31
PRT093 Proteus Syndrome, Somatic 44 1.658
32
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 18 1.658
33
KNS002 Kniest Like Dysplasia Lethal 18 1.658
34
MLT096 Multiple Epiphyseal Dysplasia, Al-Gazali Type 15 1.658
35
c FCS008 Fucosidosis Type 1 5 1.627
36
CLR029 Clark-Baraitser Syndrome 3 1.627
37
c XP2001 Xp22.3 Microdeletion Syndrome 21 0.289
38
CMM015 Commissural Facial Cleft 19 0.225
39
P MYP018 Myopia 6 29 0.186
40
MGL025 Megalencephaly, Autosomal Recessive 25 0.166
41
PRP016 Paraplegia 48 0.161
42
TTH016 Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 37 0.137
43
SCN006 Secondary Syphilis 55 0.132
44
PSY004 Psychotic Disorder 69 0.120
45
SNG010 Single Median Maxillary Central Incisor 57 0.120
46
VCT004 Vacterl Association with Hydrocephalus 15 0.120
47
IMP002 Imperforate Anus 47 0.114
48
c HYD006 Hydrocephalus 70 0.107
49
NRN002 Neuronitis 64 0.107
50
PRT015 Partial Third-Nerve Palsy 26 0.107
51
P OBS005 Obesity 93 0.100
52
LRN003 Learning Disability 58 0.093
53
P DND001 Dandy-Walker Syndrome 56 0.093
54
P OP3001 Opa3-Related 3-Methylglutaconic Aciduria 47 0.093
55
c OPT004 Optic Atrophy 46 0.093
56
c FNC043 Fanconi Anemia, Complementation Group E 24 0.093
57
P MLT007 Multiple Epiphyseal Dysplasia 77 0.085
58
PLY012 Polyhydramnios 49 0.085
59
SYN053 Syndromic Diarrhea 42 0.085
60
RVL002 Ruvalcaba Syndrome 41 0.085
61
CRK001 Cork-Handlers' Disease 32 0.085
62
c CWD001 Cowden Disease 69 0.076
63
P ATS007 Autism Spectrum Disorder 57 0.076
64
MCR010 Microcephaly 53 0.076
65
c SYN001 Syndactyly 52 0.076
66
HMH002 Hemihypertrophy 50 0.076
67
SCH016 Schimke Immunoosseous Dysplasia 49 0.076
68
P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 48 0.076
69
TTR016 Tetra-Amelia Syndrome 43 0.076
70
ENP001 Enophthalmos 35 0.076
71
MNT147 Mental Retardation 35 0.076
72
SPS057 Spasticity 29 0.076
73
c MLG049 Malignant Syringoma 27 0.076
74
P FNC001 Fanconi's Anemia 67 0.066
75
P CWD006 Cowden Syndrome 1 61 0.066
76
P HLP001 Holoprosencephaly 61 0.066
77
EPL002 Epilepsy Syndrome 57 0.066
78
P SHR002 Short Stature 57 0.066
79
CRB009 Cerebritis 56 0.066
80
THR013 Thoracic Outlet Syndrome 54 0.066
81
P INT063 Intellectual Disability 51 0.066
82
ANK001 Ankylosis 50 0.066
83
AND001 Anodontia 48 0.066
84
c GGN002 Gigantism 40 0.066
85
CTS011 Cutis Marmorata Telangiectatica Congenita 35 0.066
86
MGL013 Megalencephaly 34 0.066
87
OPS002 Opsismodysplasia 32 0.066
88
WTS001 Watson Syndrome 26 0.066
89
P ANP018 Anophthalmia Plus Syndrome 25 0.066
90
HYP264 Hypertonia 23 0.066
91
c MNS010 Monosomy Xp21 20 0.066
92
c MLT031 Multiple Epiphyseal Dysplasia, Recessive 13 0.066
93
c BRC033 Brachydactyly Type A3 8 0.066
94
CST001 Costello Syndrome 79 0.054
95
P OST002 Osteoporosis 77 0.054
96
TTR001 Tetralogy of Fallot 76 0.054
97
SPN038 Spina Bifida 70 0.054
98
KLP002 Klippel-Trenaunay Syndrome 67 0.054
99
STT001 Status Epilepticus 66 0.054
100
DFC004 Deficiency Anemia 66 0.054
101
P CTS001 Cutis Laxa 63 0.054
102
VCT001 Vacterl Association 63 0.054
103
MNK003 Muenke Syndrome 61 0.054
104
LGG001 Legg-Calve-Perthes Disease 61 0.054
105
ALP008 Alopecia 60 0.054
106
CRB021 Cerebral Malaria 59 0.054
107
OST011 Osteomalacia 57 0.054
108
P THN004 Thanatophoric Dysplasia Type 1 57 0.054
109
ARC002 Arachnoiditis 57 0.054
110
MYC002 Mycobacterium Avium Complex Disease 57 0.054
111
GRG001 Greig Cephalopolysyndactyly Syndrome 55 0.054
112
P PLY006 Polydactyly 54 0.054
113
HMP005 Hemiplegia 54 0.054
114
P THR090 Thrombocythemia 1 54 0.054
115
P FNC044 Fanconi Anemia, Complementation Group C 52 0.054
116
P L2H001 L-2-Hydroxyglutaric Aciduria 52 0.054
117
c BRC006 Brachydactyly 48 0.054
118
INC001 Incontinentia Pigmenti Achromians 46 0.054
119
AMB002 Amblyopia 46 0.054
120
P OST051 Osteopetrosis Autosomal Recessive 1 46 0.054
121
c STS001 Sotos Syndrome 45 0.054
122
c MYP006 Myopia 41 0.054
123
MCR103 Microtia 39 0.054
124
P ACH009 Achondrogenesis Type Ib 39 0.054
125
IPX001 Ipex Syndrome 39 0.054
126
CNT056 Cantu Syndrome 37 0.054
127
PTN006 Pten Hamartoma Tumor Syndrome 33 0.054
128
HYP265 Hypotonia 30 0.054
129
TRC040 Tracheoesophageal Fistula 30 0.054
130
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 30 0.054
131
OST098 Osteopathia Striata Cranial Sclerosis 29 0.054
132
PSD008 Pseudopapilledema 24 0.054
133
P CHR225 Chromosome 1q21.1 Duplication Syndrome 18 0.054
134
ANR019 Anorectal Atresia 10 0.054
135
P NRF002 Neurofibromatosis 100 0.038
136
P AMY001 Amyotrophic Lateral Sclerosis 100 0.038
137
P RTN024 Retinoblastoma 86 0.038
138
P HYP075 Hypertension 86 0.038
139
ACH004 Achondroplasia 83 0.038
140
P TYS001 Tay-Sachs Disease 82 0.038
141
MCC001 Mccune Albright Syndrome 82 0.038
142
MNK001 Menkes Disease 81 0.038
143
ACR007 Acromegaly 80 0.038
144
CLD001 Cleidocranial Dysplasia 78 0.038
145
PRT036 Peritonitis 78 0.038
146
P ACT074 Acute Lymphocytic Leukemia 77 0.038
147
SKN016 Skin Disease 75 0.038
148
P FRG001 Fragile X Syndrome 75 0.038
149
P CRD013 Cardiofaciocutaneous Syndrome 74 0.038
150
P PRD006 Prader-Willi Syndrome 74 0.038
151
P NJM001 Nijmegen Breakage Syndrome 74 0.038
152
ATS001 Autistic Disorder 72 0.038
153
P NRB001 Neuroblastoma 71 0.038
154
HYP042 Hypochondroplasia 70 0.038
155
P ANG001 Angelman Syndrome 70 0.038
156
CHR029 Choroid Plexus Papilloma 68 0.038
157
P HMN010 Hemangioma 68 0.038
158
c MCP009 Mucopolysaccharidosis Ii 68 0.038
159
c PRM002 Primary Hyperoxaluria 68 0.038
160
P CNV004 Canavan Disease 68 0.038
161
P MCP004 Mucopolysaccharidosis Iv 68 0.038
162
CMP005 Campomelic Dysplasia 68 0.038
163
P RCK004 Rickets 67 0.038
164
ANT006 Antiphospholipid Syndrome 67 0.038
165
HYP056 Hypoglycemia 66 0.038
166
MTT005 Matthew-Wood Syndrome 64 0.038
167
WST001 West Syndrome 64 0.038
168
CHR282 Chronic Infantile Neurological Cutaneous Articular Syndrome 63 0.038
169
CLB001 Coloboma 63 0.038
170
DST005 Diastrophic Dysplasia 62 0.038
171
SMT015 Smith Magenis Syndrome 62 0.038
172
ART001 Arterial Tortuosity Syndrome 62 0.038
173
P WVR001 Weaver Syndrome 62 0.038
174
c DMN001 Diamond-Blackfan Anemia 61 0.038
175
MCK007 Muckle-Wells Syndrome 60 0.038
176
P HYP080 Hypogonadism 60 0.038
177
P ESP024 Esophagitis 60 0.038
178
c CNT035 Central Nervous System Disease 60 0.038
179
FCL008 Focal Glomerulosclerosis 60 0.038
180
BRJ001 Borjeson-Forssman-Lehmann Syndrome 59 0.038
181
ACR008 Acrocallosal Syndrome 59 0.038
182
INT075 Intracranial Hypertension 59 0.038
183
P HYP040 Hypospadias 59 0.038
184
PRM027 Primitive Neuroectodermal Tumor 59 0.038
185
P DWR001 Dwarfism 58 0.038
186
CTN014 Cutaneous Mastocytosis 58 0.038
187
LKD001 Leukodystrophy 58 0.038
188
HJD001 Hajdu-Cheney Syndrome 57 0.038
189
SND001 Sandhoff Disease 57 0.038
190
ESP020 Esophageal Atresia 56 0.038
191
P LYM025 Lymphedema 56 0.038
192
c CNG001 Congenital Myasthenic Syndrome 56 0.038
193
MCS001 Mucosulfatidosis 56 0.038
194
LPC002 Lip Cancer 55 0.038
195
MLB001 Mulibrey Nanism 55 0.038
196
VGN023 Vaginitis 54 0.038
197
MCR013 Microphthalmia 53 0.038
198
HWK001 Hawkinsinuria 53 0.038
199
P MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 52 0.038
200
c SYN005 Synostosis 51 0.038
201
MTC007 Mitochondrial Complex I Deficiency 50 0.038
202
OLG003 Oligohydramnios 50 0.038
203
LGS001 Legius Syndrome 50 0.038
204
END020 Endocardial Fibroelastosis 49 0.038
205
JCB001 Jacobsen Syndrome 48 0.038
206
CCH002 Coach Syndrome 48 0.038
207
PLY024 Polymicrogyria 48 0.038
208
P ASP012 Asphyxiating Thoracic Dystrophy 3 47 0.038
209
PGT004 Paget Disease, Juvenile 46 0.038
210
CRN014 Cronkhite-Canada Syndrome 46 0.038
211
HMM003 Hemimegalencephaly 45 0.038
212
P GLT012 Glutaric Acidemia Type I 45 0.038
213
P PRX064 Peroxisome Biogenesis Disorder 2b 45 0.038
214
c MCP012 Mucopolysaccharidosis Ih 45 0.038
215
SGT001 Sagittal Sinus Thrombosis 45 0.038
216
P SMP004 Simpson-Golabi-Behmel Syndrome Type 1 43 0.038
217
ORL010 Oral-Facial-Digital Syndrome Type I 43 0.038
218
PHL006 Phelan-Mcdermid Syndrome 42 0.038
219
ANN001 Anonychia Congenita 41 0.038
220
CRB002 Cerebral Primitive Neuroectodermal Tumor 41 0.038
221
TRP014 Triploidy 41 0.038
222
JVN016 Juvenile Hyaline Fibromatosis 40 0.038
223
P RBN011 Robinow Syndrome, Autosomal Dominant 40 0.038
224
c OST108 Osteogenesis Imperfecta Type Xiii 40 0.038
225
P SPN121 Spondylocostal Dysostosis 1 39 0.038
226
c THN002 Thanatophoric Dysplasia Type 2 39 0.038
227
P 2Q3002 2q37 Microdeletion Syndrome 39 0.038
228
DNN002 Donnai-Barrow Syndrome 39 0.038
229
c BRC013 Brachydactyly Type E 38 0.038
230
FGS001 Fg Syndrome 38 0.038
231
c ACH008 Achondrogenesis Type Ia 38 0.038
232
15Q001 15q13.3 Microdeletion 37 0.038
233
c BLN003 Blindness 37 0.038
234
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 37 0.038
235
TTH001 Tooth Ankylosis 37 0.038
236
EMN001 Emanuel Syndrome 36 0.038
237
c 3Q2003 3q29 Microdeletion Syndrome 36 0.038
238
P STS008 Sotos Syndrome 1 36 0.038
239
LJN002 Lujan Syndrome 36 0.038
240
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 36 0.038
241
c MNN025 Mannosidosis, Alpha-, Types I and Ii 35 0.038
242
c RBN009 Robinow Syndrome, Autosomal Recessive 34 0.038
243
c CTN021 Cutaneous Malignant Melanoma 33 0.038
244
c OST050 Osteopetrosis Autosomal Dominant Type 2 33 0.038
245
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 32 0.038
246
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 32 0.038
247
SCH030 Schneckenbecken Dysplasia 30 0.038
248
BDY001 Body Dysmorphic Disorder 30 0.038
249
DSM002 Desmosterolosis 28 0.038
250
NNT023 Neonatal Progeroid Syndrome 28 0.038
251
P SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 27 0.038
252
ART007 Aorta Atresia 27 0.038
253
c CRN217 Craniosynostosis 3 27 0.038
254
XLN064 X-Linked Syndromic Mental Retardation, Claes-Jensen Type 27 0.038
255
CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 27 0.038
256
MGL022 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 26 0.038
257
CRN013 Craniodiaphyseal Dysplasia 26 0.038
258
ENC010 Encephalocraniocutaneous Lipomatosis 25 0.038
259
LNZ002 Lenz Majewski Hyperostotic Dwarfism 25 0.038
260
DND007 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 25 0.038
261
c CNG085 Congenital Disorder of Glycosylation Type 2d 25 0.038
262
6Q1001 6q16 Deletion Syndrome 24 0.038
263
TMT003 Temtamy Syndrome 24 0.038
264
MCR163 Microphthalmia with Linear Skin Defects Syndrome 23 0.038
265
10Q001 10q22.3q23.3 Microdeletion Syndrome 23 0.038
266
AGN008 Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia 23 0.038
267
CRB076 Cerebro Facio Thoracic Dysplasia 21 0.038
268
P MNT109 Mental Retardation, X-Linked, Syndromic 15 21 0.038
269
c BNG076 Benign Exophthalmos Syndrome 21 0.038
270
P SPN181 Spondylocostal Dysostosis, Autosomal Dominant 21 0.038
271
DYS045 Dysosteosclerosis 21 0.038
272
ACR002 Acrocapitofemoral Dysplasia 20 0.038
273
MGL019 Megalocornea-Intellectual Deficit Syndrome 20 0.038
274
FNT003 Fountain Syndrome 20 0.038
275
LMB011 Limb Deficiencies Distal with Micrognathia 20 0.038
276
LBN004 Liebenberg Syndrome 20 0.038
277
c CHR224 Chromosome 1q Duplication 19 0.038
278
CRB024 Cerebral Neuroblastoma 19 0.038
279
ANT054 Anotia 19 0.038
280
SGM007 Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus 19 0.038
281
HYD023 Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 18 0.038
282
PYK001 Pyknoachondrogenesis 18 0.038
283
CHR246 Chromosome 3q29 Microduplication Syndrome 18 0.038
284
c 3Q1001 3q13 Microdeletion Syndrome 17 0.038
285
OCL039 Oculoectodermal Syndrome 17 0.038
286
RDL023 Radio-Ulnar Synostosis - Intellectual Deficit - Hypotonia 17 0.038
287
SMM003 Summitt Syndrome 17 0.038
288
15Q004 15q11q13 Microduplication Syndrome 17 0.038
289
OST047 Osteopenia and Sparse Hair 17 0.038
290
INT170 Intellectual Deficit - Cataracts - Calcified Pinnae - Myopathy 17 0.038
291
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 17 0.038
292
NSD003 Nasodigitoacoustic Syndrome 16 0.038
293
c MNS011 Monosomy 9q22.3 16 0.038
294
MCR105 Macrostomia 16 0.038
295
c CHR252 Chromosome 5p Duplication 16 0.038
296
ATK001 Atkin Syndrome 16 0.038
297
EPL021 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 16 0.038
298
ECT053 Ectodermal Dysplasia - Intellectual Deficit - Central Nervous System Malformation 15 0.038
299
INT194 Intellectual Deficit, X-Linked, Armfield Type 15 0.038
300
20P001 20p12.3 Microdeletion Syndrome 15 0.038
301
MGL011 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 15 0.038
302
CRN083 Craniofacial Dyssynostosis 15 0.038
303
PRX069 Proximal 16p11.2 Microdeletion Syndrome 15 0.038
304
c FRN037 Frontal Encephalocele 15 0.038
305
CRN087 Craniomicromelic Syndrome 15 0.038
306
DST055 Distal 22q11.2 Microduplication Syndrome 15 0.038
307
c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 15 0.038
308
SPN113 Spinocerebellar Ataxia with Dysmorphism 14 0.038
309
FGS002 Fg Syndrome 2 14 0.038
310
INT157 Intellectual Deficit, X-Linked - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures 14 0.038
311
c SVR048 Severe Canavan Disease 14 0.038
312
MTP019 Metaphyseal Dysostosis - Intellectual Deficit - Conductive Deafness 14 0.038
313
LNR012 Linear Verrucous Nevus Syndrome 14 0.038
314
LTH005 Lethal Chondrodysplasia Moerman Type 14 0.038
315
MSC026 Muscular Dystrophy White Matter Spongiosis 14 0.038
316
CRB071 Cerebral Gigantism Jaw Cysts 13 0.038
317
OST100 Osteosclerosis - Developmental Delay - Craniosynostosis 13 0.038
318
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 13 0.038
319
ERL015 Early-Onset Parkinsonism - Intellectual Deficit 12 0.038
320
SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 12 0.038
321
THN008 Thin Ribs - Tubular Bones - Dysmorphism 12 0.038
322
CRN203 Craniometadiaphyseal Dysplasia, Wormian Bone Type 11 0.038
323
ISL030 Isolated Cerebellar Hypoplasia/agenesis 10 0.038
324
GNG024 Gingival Fibromatosis - Facial Dysmorphism 10 0.038
325
EPM003 Epimetaphyseal Skeletal Dysplasia 9 0.038
326
c RBN010 Robinow-Like Syndrome 9 0.038
327
TRP011 Triopia 8 0.038