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 48 7.595
2
XLN016 X-Linked Periventricular Heterotopia 39 7.336
3
P SBC028 Subcortical Band Heterotopia 45 5.371
4
c HTR007 Heterotopia, Periventricular, Ed Variant 25 5.248
5
c PRV013 Periventricular Nodular Heterotopia 3 17 4.545
6
c PRV014 Periventricular Nodular Heterotopia 5 17 4.545
7
PRV007 Periventricular Heterotopia with Microcephaly 22 4.168
8
SBP003 Subependymal Nodular Heterotopia 13 3.827
9
LS1001 Lis1-Associated Lissencephaly/subcortical Band Heterotopia 8 3.751
10
NSL020 Nasal Glial Heterotopia 16 3.391
11
P HTR015 Heterotopia, Periventricular 20 3.367
12
c PRV016 Periventricular Nodular Heterotopia 6 21 3.214
13
P LSS027 Lissencephaly, X-Linked 47 2.715
14
HRD055 Hereditary Nodular Heterotopia 3 2.697
15
FML049 Familial Band Heterotopia 2 2.652
16
MRG004 Marginal Glioneuronal Heterotopia 1 2.652
17
SBC038 Sub-Cortical Nodular Heterotopia 6 2.624
18
c DCX003 Dcx-Related Subcortical Band Heterotopia 4 2.624
19
17L003 17-Linked Subcortical Band Heterotopia 2 2.624
20
c LSS005 Lissencephaly 1 43 1.983
21
P LSS002 Lissencephaly 55 0.221
22
NRN002 Neuronitis 42 0.212
23
CRB009 Cerebritis 37 0.165
24
P PLY024 Polymicrogyria 36 0.153
25
P ENC008 Encephalocele 56 0.146
26
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 42 0.140
27
NRN016 Neuronal Migration Disorders 31 0.140
28
P EHL001 Ehlers-Danlos Syndrome 64 0.132
29
P SZR006 Seizure Disorder 58 0.132
30
P TRC086 Trichohepatoenteric Syndrome 1 45 0.132
31
PCH002 Pachygyria 42 0.125
32
THR013 Thoracic Outlet Syndrome 52 0.108
33
P EPL002 Epilepsy Syndrome 46 0.108
34
ACN002 Acanthosis Nigricans 63 0.099
35
WST001 West Syndrome 61 0.099
36
P MCR010 Microcephaly 56 0.099
37
P MNT147 Mental Retardation 56 0.099
38
P ATX010 Ataxia Neuropathy Spectrum 29 0.099
39
AND015 Androgen Insensitivity 78 0.088
40
P PNC044 Pancreatitis 68 0.088
41
P HYD006 Hydrocephalus 65 0.088
42
LRN003 Learning Disability 61 0.088
43
P AXN010 Axenfeld-Rieger Syndrome, Type 3 57 0.088
44
P SYN001 Syndactyly 50 0.088
45
P INT105 Intellectual Disability Multi-Gene Panels 17 0.088
46
P ANG001 Angelman Syndrome 76 0.076
47
P HLP001 Holoprosencephaly 75 0.076
48
P AST007 Astrocytoma 72 0.076
49
STT001 Status Epilepticus 64 0.076
50
SMT008 Smith-Magenis Syndrome 63 0.076
51
P EHL049 Ehlers-Danlos Syndrome Classical Type 62 0.076
52
CHL067 Cholecystitis 59 0.076
53
TMP001 Temporal Lobe Epilepsy 56 0.076
54
c SPN225 Spondyloarthropathy 1 52 0.076
55
P MNN007 Meningocele 40 0.076
56
c ART101 Aortic Valve Disease 2 37 0.076
57
P BRT040 Baraitser-Winter Syndrome 37 0.076
58
EHL044 Ehlers-Danlos Syndrome, Autosomal Recessive, Due to Tenascin X Deficiency 30 0.076
59
CDS001 Cadasil 81 0.062
60
P TBR001 Tuberous Sclerosis 78 0.062
61
P FRG001 Fragile X Syndrome 75 0.062
62
STR067 Stroke, Ischemic 69 0.062
63
P CRN037 Craniosynostosis 69 0.062
64
CRB039 Cerebrovascular Disease 66 0.062
65
P ESP024 Esophagitis 62 0.062
66
JCB001 Jacobsen Syndrome 61 0.062
67
P DYS154 Dystonia 60 0.062
68
P CHL002 Childhood Absence Epilepsy 59 0.062
69
MYC002 Mycobacterium Avium Complex Disease 59 0.062
70
HDC001 Headache 57 0.062
71
PTN002 Patent Ductus Arteriosus 57 0.062
72
ARC007 Arachnoid Cysts 57 0.062
73
P CRV039 Cervicitis 56 0.062
74
P LFT003 Left Ventricular Noncompaction 54 0.062
75
CNS004 Constipation 52 0.062
76
CRB045 Cerebellar Hypoplasia 51 0.062
77
HMP005 Hemiplegia 51 0.062
78
MLN014 Melnick-Needles Syndrome 47 0.062
79
ANR040 Aneurysm 45 0.062
80
ARC002 Arachnoiditis 43 0.062
81
OBS004 Obstructive Hydrocephalus 42 0.062
82
ALB014 Alobar Holoprosencephaly 40 0.062
83
KBG001 Kbg Syndrome 40 0.062
84
FRN012 Frontometaphyseal Dysplasia 40 0.062
85
AMN009 Amniotic Band Syndrome 31 0.062
86
P CMM008 Communicating Hydrocephalus 29 0.062
87
CHD004 Chudley-Mccullough Syndrome 29 0.062
88
CHR469 Choristoma 27 0.062
89
LMB013 Limb Reduction Defect 21 0.062
90
c BNG076 Benign Exophthalmos Syndrome 21 0.062
91
AND005 Androgen Insensitivity Syndrome, Mild 19 0.062
92
P ATX030 Ataxia-Telangiectasia 86 0.044
93
SMT004 Smith-Lemli-Opitz Syndrome 85 0.044
94
P RTN008 Retinitis Pigmentosa 83 0.044
95
c AMY091 Amyotrophic Lateral Sclerosis 1 81 0.044
96
P CLC005 Celiac Disease 79 0.044
97
SKN016 Skin Disease 73 0.044
98
P BCK002 Beckwith-Wiedemann Syndrome 71 0.044
99
P THN009 Thanatophoric Dysplasia, Type I 70 0.044
100
P HMN010 Hemangioma 69 0.044
101
c MLG068 Malignant Glioma 67 0.044
102
ERD001 Erdheim-Chester Disease 67 0.044
103
WLL001 Williams-Beuren Syndrome 66 0.044
104
c BSL007 Basal Cell Carcinoma 66 0.044
105
ZLL002 Zollinger-Ellison Syndrome 65 0.044
106
ANN002 Anencephaly 65 0.044
107
P CNG015 Congenital Diaphragmatic Hernia 65 0.044
108
P GST044 Gastritis 65 0.044
109
P HRP009 Herpes Simplex Encephalitis 64 0.044
110
P SCH018 Schizencephaly 64 0.044
111
P HPT021 Hepatitis 63 0.044
112
P AND016 Andersen Syndrome 61 0.044
113
ACH005 Achalasia 61 0.044
114
GST092 Gastroesophageal Reflux 60 0.044
115
MCR013 Microphthalmia 60 0.044
116
FCL009 Focal Dermal Hypoplasia 59 0.044
117
SPN020 Spondylosis 58 0.044
118
NRC020 Neuroectodermal Tumor 58 0.044
119
c SCN006 Secondary Syphilis 58 0.044
120
P CTR002 Cataract 58 0.044
121
CRD002 Cri-Du-Chat Syndrome 57 0.044
122
P ADN016 Adenocarcinoma 57 0.044
123
P PLC011 Pilocytic Astrocytoma 57 0.044
124
MBS002 Moebius Syndrome 57 0.044
125
HMM003 Hemimegalencephaly 57 0.044
126
CHN055 Chanarin-Dorfman Syndrome 56 0.044
127
P ESC003 Escobar Syndrome 56 0.044
128
P ATR001 Atrioventricular Septal Defect 56 0.044
129
HYP458 Hyper Ige Syndrome 56 0.044
130
ECT006 Ectodermal Dysplasia 56 0.044
131
P SNS014 Sinusitis 56 0.044
132
ART001 Arterial Tortuosity Syndrome 56 0.044
133
c MLT024 Multiple Endocrine Neoplasia Iia 55 0.044
134
ILT001 Ileitis 55 0.044
135
DDN006 Duodenitis 55 0.044
136
LPM005 Lipomatosis 54 0.044
137
P ZLL001 Zellweger Syndrome 54 0.044
138
PTS001 Patau Syndrome 53 0.044
139
P JVN007 Juvenile Absence Epilepsy 53 0.044
140
SCH016 Schimke Immunoosseous Dysplasia 53 0.044
141
LNN001 Lennox-Gastaut Syndrome 53 0.044
142
ACR012 Aicardi Syndrome 53 0.044
143
CHR008 Choroiditis 52 0.044
144
P SHR001 Short Bowel Syndrome 52 0.044
145
RTN023 Retinitis 51 0.044
146
P STR020 Strabismus 51 0.044
147
P SCL018 Scoliosis 51 0.044
148
GNT031 Genitopatellar Syndrome 50 0.044
149
MNN014 Mononeuritis 49 0.044
150
P APL006 Aplasia Cutis Congenita 49 0.044
151
PYL006 Pyloric Stenosis 49 0.044
152
MLN001 Melanotic Neuroectodermal Tumor 48 0.044
153
P HYP345 Hyper-Ige Recurrent Infection Syndrome 48 0.044
154
P HYD011 Hydrolethalus Syndrome 47 0.044
155
P CHN014 Chondrodysplasia Punctata 46 0.044
156
AGN013 Agenesis of the Corpus Callosum 45 0.044
157
HTS001 Hiatus Hernia 43 0.044
158
CHN015 Chondrodysplasia 43 0.044
159
INC001 Incontinentia Pigmenti Achromians 43 0.044
160
P FRN036 Frontonasal Dysplasia 1 43 0.044
161
MCK002 Meckel's Diverticulum 42 0.044
162
TTR016 Tetra-Amelia Syndrome 42 0.044
163
GRD007 Grade Iii Astrocytoma 41 0.044
164
CLF027 Cleft Palate, Isolated 41 0.044
165
P HYP265 Hypotonia 41 0.044
166
SPT006 Septooptic Dysplasia 41 0.044
167
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 38 0.044
168
VCS001 Vici Syndrome 38 0.044
169
EXT022 Exotropia 38 0.044
170
c ORF037 Orofaciodigital Syndrome I 37 0.044
171
SPS057 Spasticity 37 0.044
172
CHL056 Cheilitis 37 0.044
173
P DYS005 Dyslexia 36 0.044
174
SKL017 Skeletal Dysplasias 35 0.044
175
FCT013 Factor V Leiden Thrombophilia 35 0.044
176
HYP264 Hypertonia 35 0.044
177
BLR005 Biliary Papillomatosis 35 0.044
178
DND005 Dandy-Walker Complex 34 0.044
179
PHC004 Phace Syndrome 34 0.044
180
ICH054 Ichthyosis, X-Linked 34 0.044
181
P CRB059 Cerebellar Degeneration 33 0.044
182
OCL034 Oculocerebrocutaneous Syndrome 33 0.044
183
BHR002 Bohring-Opitz Syndrome 32 0.044
184
SPS005 Spastic Hemiplegia 32 0.044
185
c CHR160 Chiari Malformation Type 2 31 0.044
186
MCR128 Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 30 0.044
187
ACT093 Actinic Cheilitis 30 0.044
188
PLY119 Polymicrogyria, Bilateral Perisylvian 29 0.044
189
c ART115 Aortic Valve Disease 1 28 0.044
190
CRK001 Cork-Handlers' Disease 28 0.044
191
c CNG413 Congenital Short Bowel Syndrome 28 0.044
192
CRB029 Cerebellopontine Angle Tumor 23 0.044
193
OPT054 Opitz-Kaveggia Syndrome 23 0.044
194
c LSS009 Lissencephaly 3 23 0.044
195
MLL018 Miller-Dieker Lissencephaly Syndrome 22 0.044
196
VNM003 Van Maldergem Syndrome 1 22 0.044
197
NRN022 Neurenteric Cyst 22 0.044
198
c PRX059 Peroxisome Biogenesis Disorder 1a 21 0.044
199
MYL044 Myelocystocele 20 0.044
200
SLT007 Solitary Rectal Ulcer Syndrome 20 0.044
201
c LSS025 Lissencephaly 5 18 0.044
202
VNM002 Van Maldergem Syndrome 2 17 0.044
203
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 16 0.044
204
c LSS029 Lissencephaly Due to Lis1 Mutation 11 0.044
205
c CNG031 Congenital Nervous System Abnormality 11 0.044
206
6QT002 6q Terminal Deletion Syndrome 10 0.044