Search results for "heterotopia"

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

206 hits were found for 'heterotopia'

# Family MCID Name MIFTS Score
1
P PRV002 Periventricular Nodular Heterotopia 41 7.354
2
XLN016 X-Linked Periventricular Heterotopia 33 6.855
3
P SBC028 Subcortical Band Heterotopia 39 5.376
4
c HTR007 Heterotopia, Periventricular, Ed Variant 22 5.263
5
c PRV013 Periventricular Nodular Heterotopia 3 15 4.562
6
c PRV014 Periventricular Nodular Heterotopia 5 15 4.562
7
PRV007 Periventricular Heterotopia with Microcephaly 19 4.185
8
SBP003 Subependymal Nodular Heterotopia 11 3.840
9
LS1001 Lis1-Associated Lissencephaly/subcortical Band Heterotopia 6 3.768
10
NSL020 Nasal Glial Heterotopia 14 3.403
11
P HTR015 Heterotopia, Periventricular 17 3.379
12
c PRV016 Periventricular Nodular Heterotopia 6 18 3.237
13
c LSS005 Lissencephaly 1 37 2.733
14
P LSS027 Lissencephaly, X-Linked 41 2.715
15
HRD055 Hereditary Nodular Heterotopia 3 2.715
16
FML049 Familial Band Heterotopia 2 2.676
17
MRG004 Marginal Glioneuronal Heterotopia 1 2.676
18
SBC038 Sub-Cortical Nodular Heterotopia 5 2.652
19
c DCX003 Dcx-Related Subcortical Band Heterotopia 4 2.652
20
17L003 17-Linked Subcortical Band Heterotopia 2 2.652
21
P LSS002 Lissencephaly 47 0.221
22
NRN002 Neuronitis 36 0.212
23
CRB009 Cerebritis 33 0.165
24
P PLY024 Polymicrogyria 31 0.153
25
P ENC008 Encephalocele 49 0.146
26
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 38 0.140
27
NRN016 Neuronal Migration Disorders 26 0.140
28
P SZR006 Seizure Disorder 56 0.132
29
P EHL001 Ehlers-Danlos Syndrome 56 0.132
30
P TRC086 Trichohepatoenteric Syndrome 1 39 0.132
31
PCH002 Pachygyria 36 0.125
32
THR013 Thoracic Outlet Syndrome 45 0.108
33
P EPL002 Epilepsy Syndrome 44 0.108
34
ACN002 Acanthosis Nigricans 55 0.099
35
WST001 West Syndrome 54 0.099
36
P MCR010 Microcephaly 49 0.099
37
P MNT147 Mental Retardation 46 0.099
38
P ATX010 Ataxia Neuropathy Spectrum 29 0.099
39
AND015 Androgen Insensitivity 69 0.088
40
P PNC044 Pancreatitis 59 0.088
41
P HYD006 Hydrocephalus 56 0.088
42
LRN003 Learning Disability 53 0.088
43
P AXN010 Axenfeld-Rieger Syndrome, Type 3 50 0.088
44
P SYN001 Syndactyly 43 0.088
45
P INT105 Intellectual Disability Multi-Gene Panels 15 0.088
46
P ANG001 Angelman Syndrome 66 0.076
47
P HLP001 Holoprosencephaly 65 0.076
48
P AST007 Astrocytoma 63 0.076
49
STT001 Status Epilepticus 56 0.076
50
SMT008 Smith-Magenis Syndrome 56 0.076
51
P EHL049 Ehlers-Danlos Syndrome Classical Type 53 0.076
52
CHL067 Cholecystitis 53 0.076
53
TMP001 Temporal Lobe Epilepsy 50 0.076
54
c SPN225 Spondyloarthropathy 1 48 0.076
55
P MNN007 Meningocele 34 0.076
56
c ART101 Aortic Valve Disease 2 32 0.076
57
P BRT040 Baraitser-Winter Syndrome 31 0.076
58
EHL044 Ehlers-Danlos Syndrome, Autosomal Recessive, Due to Tenascin X Deficiency 26 0.076
59
CDS001 Cadasil 73 0.062
60
P TBR001 Tuberous Sclerosis 68 0.062
61
P FRG001 Fragile X Syndrome 66 0.062
62
STR067 Stroke, Ischemic 65 0.062
63
P CRN037 Craniosynostosis 60 0.062
64
CRB039 Cerebrovascular Disease 59 0.062
65
P DYS154 Dystonia 55 0.062
66
P ESP024 Esophagitis 54 0.062
67
JCB001 Jacobsen Syndrome 53 0.062
68
MYC002 Mycobacterium Avium Complex Disease 51 0.062
69
P CHL002 Childhood Absence Epilepsy 51 0.062
70
HDC001 Headache 50 0.062
71
PTN002 Patent Ductus Arteriosus 49 0.062
72
ARC007 Arachnoid Cysts 49 0.062
73
P CRV039 Cervicitis 49 0.062
74
P LFT003 Left Ventricular Noncompaction 46 0.062
75
CNS004 Constipation 45 0.062
76
CRB045 Cerebellar Hypoplasia 44 0.062
77
HMP005 Hemiplegia 44 0.062
78
MLN014 Melnick-Needles Syndrome 40 0.062
79
ARC002 Arachnoiditis 39 0.062
80
OBS004 Obstructive Hydrocephalus 36 0.062
81
ANR040 Aneurysm 35 0.062
82
ALB014 Alobar Holoprosencephaly 35 0.062
83
KBG001 Kbg Syndrome 35 0.062
84
FRN012 Frontometaphyseal Dysplasia 34 0.062
85
AMN009 Amniotic Band Syndrome 27 0.062
86
P CMM008 Communicating Hydrocephalus 25 0.062
87
CHD004 Chudley-Mccullough Syndrome 24 0.062
88
CHR469 Choristoma 24 0.062
89
c BNG076 Benign Exophthalmos Syndrome 19 0.062
90
AND005 Androgen Insensitivity Syndrome, Mild 17 0.062
91
LMB013 Limb Reduction Defect 15 0.062
92
P ATX030 Ataxia-Telangiectasia 76 0.044
93
SMT004 Smith-Lemli-Opitz Syndrome 74 0.044
94
c AMY091 Amyotrophic Lateral Sclerosis 1 82 0.044
95
P RTN008 Retinitis Pigmentosa 72 0.044
96
P CLC005 Celiac Disease 69 0.044
97
SKN016 Skin Disease 64 0.044
98
P BCK002 Beckwith-Wiedemann Syndrome 61 0.044
99
P THN009 Thanatophoric Dysplasia, Type I 62 0.044
100
P HMN010 Hemangioma 60 0.044
101
GST092 Gastroesophageal Reflux 60 0.044
102
c MLG068 Malignant Glioma 58 0.044
103
ERD001 Erdheim-Chester Disease 58 0.044
104
WLL001 Williams-Beuren Syndrome 58 0.044
105
ZLL002 Zollinger-Ellison Syndrome 57 0.044
106
ANN002 Anencephaly 57 0.044
107
P GST044 Gastritis 56 0.044
108
c BSL007 Basal Cell Carcinoma 56 0.044
109
P CNG015 Congenital Diaphragmatic Hernia 56 0.044
110
P HRP009 Herpes Simplex Encephalitis 56 0.044
111
P SCH018 Schizencephaly 55 0.044
112
P HPT021 Hepatitis 55 0.044
113
P AND016 Andersen Syndrome 54 0.044
114
ACH005 Achalasia 53 0.044
115
MCR013 Microphthalmia 52 0.044
116
SPN020 Spondylosis 51 0.044
117
FCL009 Focal Dermal Hypoplasia 51 0.044
118
c SCN006 Secondary Syphilis 51 0.044
119
NRC020 Neuroectodermal Tumor 51 0.044
120
MBS002 Moebius Syndrome 51 0.044
121
P CTR002 Cataract 50 0.044
122
CRD002 Cri-Du-Chat Syndrome 50 0.044
123
P PLC011 Pilocytic Astrocytoma 49 0.044
124
HMM003 Hemimegalencephaly 49 0.044
125
CHN055 Chanarin-Dorfman Syndrome 50 0.044
126
P ESC003 Escobar Syndrome 50 0.044
127
P ADN016 Adenocarcinoma 49 0.044
128
ILT001 Ileitis 49 0.044
129
ECT006 Ectodermal Dysplasia 48 0.044
130
P SNS014 Sinusitis 56 0.044
131
ART001 Arterial Tortuosity Syndrome 48 0.044
132
c MLT024 Multiple Endocrine Neoplasia Iia 49 0.044
133
P ATR001 Atrioventricular Septal Defect 48 0.044
134
DDN006 Duodenitis 48 0.044
135
P JVN007 Juvenile Absence Epilepsy 47 0.044
136
HYP458 Hyper Ige Syndrome 47 0.044
137
LPM005 Lipomatosis 47 0.044
138
PTS001 Patau Syndrome 46 0.044
139
P ZLL001 Zellweger Syndrome 46 0.044
140
SCH016 Schimke Immunoosseous Dysplasia 46 0.044
141
LNN001 Lennox-Gastaut Syndrome 46 0.044
142
ACR012 Aicardi Syndrome 46 0.044
143
CHR008 Choroiditis 45 0.044
144
P SHR001 Short Bowel Syndrome 45 0.044
145
RTN023 Retinitis 44 0.044
146
P SCL018 Scoliosis 45 0.044
147
P STR020 Strabismus 44 0.044
148
GNT031 Genitopatellar Syndrome 43 0.044
149
MNN014 Mononeuritis 43 0.044
150
P APL006 Aplasia Cutis Congenita 42 0.044
151
MLN001 Melanotic Neuroectodermal Tumor 41 0.044
152
PYL006 Pyloric Stenosis 41 0.044
153
P HYP345 Hyper-Ige Recurrent Infection Syndrome 42 0.044
154
P HYD011 Hydrolethalus Syndrome 41 0.044
155
P CHN014 Chondrodysplasia Punctata 41 0.044
156
GRD007 Grade Iii Astrocytoma 39 0.044
157
AGN013 Agenesis of the Corpus Callosum 38 0.044
158
HTS001 Hiatus Hernia 38 0.044
159
P FRN036 Frontonasal Dysplasia 1 37 0.044
160
CHN015 Chondrodysplasia 37 0.044
161
MCK002 Meckel's Diverticulum 36 0.044
162
CLF027 Cleft Palate, Isolated 36 0.044
163
TTR016 Tetra-Amelia Syndrome 36 0.044
164
INC001 Incontinentia Pigmenti Achromians 36 0.044
165
SPT006 Septooptic Dysplasia 36 0.044
166
P HYP265 Hypotonia 34 0.044
167
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 34 0.044
168
VCS001 Vici Syndrome 33 0.044
169
EXT022 Exotropia 32 0.044
170
c ORF037 Orofaciodigital Syndrome I 33 0.044
171
SPS057 Spasticity 32 0.044
172
CHL056 Cheilitis 32 0.044
173
FCT013 Factor V Leiden Thrombophilia 31 0.044
174
P DYS005 Dyslexia 30 0.044
175
SKL017 Skeletal Dysplasias 30 0.044
176
HYP264 Hypertonia 30 0.044
177
BLR005 Biliary Papillomatosis 30 0.044
178
PHC004 Phace Syndrome 30 0.044
179
DND005 Dandy-Walker Complex 30 0.044
180
ICH054 Ichthyosis, X-Linked 30 0.044
181
P CRB059 Cerebellar Degeneration 29 0.044
182
OCL034 Oculocerebrocutaneous Syndrome 29 0.044
183
BHR002 Bohring-Opitz Syndrome 28 0.044
184
MCR128 Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 27 0.044
185
SPS005 Spastic Hemiplegia 27 0.044
186
c CHR160 Chiari Malformation Type 2 26 0.044
187
ACT093 Actinic Cheilitis 25 0.044
188
c ART115 Aortic Valve Disease 1 25 0.044
189
PLY119 Polymicrogyria, Bilateral Perisylvian 26 0.044
190
c CNG413 Congenital Short Bowel Syndrome 26 0.044
191
CRK001 Cork-Handlers' Disease 22 0.044
192
MLL018 Miller-Dieker Lissencephaly Syndrome 21 0.044
193
CRB029 Cerebellopontine Angle Tumor 20 0.044
194
OPT054 Opitz-Kaveggia Syndrome 20 0.044
195
c LSS009 Lissencephaly 3 19 0.044
196
NRN022 Neurenteric Cyst 19 0.044
197
c PRX059 Peroxisome Biogenesis Disorder 1a 17 0.044
198
MYL044 Myelocystocele 18 0.044
199
SLT007 Solitary Rectal Ulcer Syndrome 17 0.044
200
VNM003 Van Maldergem Syndrome 1 16 0.044
201
c LSS025 Lissencephaly 5 15 0.044
202
VNM002 Van Maldergem Syndrome 2 14 0.044
203
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 14 0.044
204
c LSS029 Lissencephaly Due to Lis1 Mutation 10 0.044
205
6QT002 6q Terminal Deletion Syndrome 8 0.044
206
c CNG031 Congenital Nervous System Abnormality 9 0.044