Search results for "heterotopia"

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

210 hits were found for 'heterotopia'

# Family MCID Name MIFTS Score
1
P PRV002 Periventricular Nodular Heterotopia 57 8.262
2
XLN016 X-Linked Periventricular Heterotopia 25 7.063
3
LSS007 Lissencephaly X-Linked 44 4.648
4
P SBC028 Subcortical Band Heterotopia 35 4.195
5
SBP003 Subependymal Nodular Heterotopia 12 3.819
6
LS1001 Lis1-Associated Lissencephaly/subcortical Band Heterotopia 8 3.741
7
P HTR007 Heterotopia, Periventricular, Ed Variant 20 3.702
8
SBC021 Subcortical Laminar Heterotopia 23 3.396
9
NSL020 Nasal Glial Heterotopia 15 3.372
10
c PRV009 Periventricular Heterotopia, Autosomal Recessive 13 3.206
11
PRV010 Periventricular Heterotopia, Ehlers-Danlos Variant 7 3.206
12
c PRV013 Periventricular Nodular Heterotopia 3 7 3.206
13
c PRV014 Periventricular Nodular Heterotopia 5 7 3.206
14
HRD055 Hereditary Nodular Heterotopia 3 2.690
15
PRV007 Periventricular Heterotopia with Microcephaly 9 2.646
16
FML049 Familial Band Heterotopia 2 2.646
17
MRG004 Marginal Glioneuronal Heterotopia 1 2.646
18
c PRV016 Periventricular Nodular Heterotopia 6 12 2.617
19
SBC038 Sub-Cortical Nodular Heterotopia 5 2.617
20
c DCX003 Dcx-Related Subcortical Band Heterotopia 3 2.617
21
17L003 17-Linked Subcortical Band Heterotopia 2 2.617
22
c LSS002 Lissencephaly 56 0.213
23
NRN002 Neuronitis 43 0.208
24
CRB009 Cerebritis 38 0.166
25
PLY024 Polymicrogyria 33 0.147
26
NRN016 Neuronal Migration Disorders 31 0.147
27
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 43 0.141
28
P ENC008 Encephalocele 53 0.133
29
c EHL001 Ehlers-Danlos Syndrome 63 0.126
30
PCH002 Pachygyria 42 0.126
31
SYN053 Syndromic Diarrhea 34 0.126
32
P SZR006 Seizure Disorder 50 0.118
33
P LSS005 Lissencephaly 1 42 0.109
34
WST001 West Syndrome 72 0.099
35
ACN002 Acanthosis Nigricans 64 0.099
36
c MCR010 Microcephaly 56 0.099
37
c MNT147 Mental Retardation 56 0.099
38
P ATX010 Ataxia Neuropathy Spectrum 47 0.099
39
AND002 Androgen Insensitivity Syndrome 80 0.089
40
c AXN002 Axenfeld-Rieger Syndrome 69 0.089
41
P HYD006 Hydrocephalus 69 0.089
42
THR013 Thoracic Outlet Syndrome 52 0.089
43
c SYN001 Syndactyly 50 0.089
44
EPL002 Epilepsy Syndrome 45 0.089
45
MGL013 Megalencephaly 45 0.089
46
P AST007 Astrocytoma 72 0.077
47
c PNC044 Pancreatitis 68 0.077
48
c HLP001 Holoprosencephaly 68 0.077
49
LRN003 Learning Disability 62 0.077
50
CHL067 Cholecystitis 60 0.077
51
SMT015 Smith Magenis Syndrome 58 0.077
52
TMP001 Temporal Lobe Epilepsy 58 0.077
53
P MNN007 Meningocele 40 0.077
54
c BRT040 Baraitser-Winter Syndrome 35 0.077
55
P TBR001 Tuberous Sclerosis 86 0.063
56
P FRG001 Fragile X Syndrome 77 0.063
57
ANK002 Ankylosing Spondylitis 76 0.063
58
P ANG001 Angelman Syndrome 71 0.063
59
c CRN037 Craniosynostosis 69 0.063
60
STT001 Status Epilepticus 65 0.063
61
ART019 Aortic Valve Stenosis 63 0.063
62
P ESP024 Esophagitis 63 0.063
63
WLL003 Williams Syndrome 63 0.063
64
JCB001 Jacobsen Syndrome 60 0.063
65
c DYS154 Dystonia 60 0.063
66
MYC002 Mycobacterium Avium Complex Disease 58 0.063
67
HDC001 Headache 57 0.063
68
P CRV039 Cervicitis 57 0.063
69
PTN002 Patent Ductus Arteriosus 57 0.063
70
INC001 Incontinentia Pigmenti Achromians 56 0.063
71
c CHL002 Childhood Absence Epilepsy 55 0.063
72
P EHL049 Ehlers-Danlos Syndrome Classical Type 55 0.063
73
CNS004 Constipation 53 0.063
74
HMP005 Hemiplegia 52 0.063
75
c FRN023 Frontonasal Dysplasia 49 0.063
76
ANR040 Aneurysm 45 0.063
77
c PTR004 Pterygium 44 0.063
78
OBS004 Obstructive Hydrocephalus 42 0.063
79
c LFT003 Left Ventricular Noncompaction 42 0.063
80
ALB014 Alobar Holoprosencephaly 40 0.063
81
CRB045 Cerebellar Hypoplasia 39 0.063
82
KBG001 Kbg Syndrome 39 0.063
83
FRN012 Frontometaphyseal Dysplasia 39 0.063
84
BLT011 Bilateral Perisylvian Polymicrogyria 34 0.063
85
AMN009 Amniotic Band Syndrome 30 0.063
86
P CMM008 Communicating Hydrocephalus 30 0.063
87
CHD004 Chudley-Mccullough Syndrome 28 0.063
88
CHR469 Choristoma 27 0.063
89
c BNG076 Benign Exophthalmos Syndrome 22 0.063
90
LMB013 Limb Reduction Defect 22 0.063
91
AND005 Androgen Insensitivity Syndrome, Mild 21 0.063
92
P INT105 Intellectual Disability Multi-Gene Panels 16 0.063
93
P ATX002 Ataxia Telangiectasia 87 0.044
94
P RTN008 Retinitis Pigmentosa 86 0.044
95
SMT004 Smith-Lemli-Opitz Syndrome 84 0.044
96
CDS001 Cadasil 84 0.044
97
P CLC005 Celiac Disease 74 0.044
98
SKN016 Skin Disease 74 0.044
99
P HYP458 Hyper Ige Syndrome 72 0.044
100
P HMN010 Hemangioma 70 0.044
101
c JBR001 Joubert Syndrome 69 0.044
102
RNL002 Renal Agenesis 69 0.044
103
SPT014 Septo-Optic Dysplasia 69 0.044
104
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 0.044
105
CRB039 Cerebrovascular Disease 68 0.044
106
P BCK002 Beckwith-Wiedemann Syndrome 68 0.044
107
P MLG068 Malignant Glioma 68 0.044
108
GST034 Gastroesophageal Reflux Disease 68 0.044
109
P SHR002 Short Stature 68 0.044
110
P EPL025 Epileptic Encephalopathy, Early Infantile, 2 67 0.044
111
ERD001 Erdheim-Chester Disease 67 0.044
112
c AMY001 Amyotrophic Lateral Sclerosis 66 0.044
113
P BSL007 Basal Cell Carcinoma 66 0.044
114
P GST044 Gastritis 65 0.044
115
ZLL002 Zollinger-Ellison Syndrome 65 0.044
116
c HPT021 Hepatitis 63 0.044
117
BRR003 Barrett's Esophagus 63 0.044
118
c AMY077 Amyotrophic Lateral Sclerosis Type 18 63 0.044
119
MLL005 Miller-Dieker Syndrome 62 0.044
120
P SCH018 Schizencephaly 61 0.044
121
XLN001 X-Linked Ichthyosis 61 0.044
122
P THN004 Thanatophoric Dysplasia Type 1 60 0.044
123
P AMY074 Amyotrophic Lateral Sclerosis Type 14 59 0.044
124
SPN020 Spondylosis 59 0.044
125
NRC020 Neuroectodermal Tumor 59 0.044
126
NTR001 Neutral Lipid Storage Disease 59 0.044
127
FCL009 Focal Dermal Hypoplasia 58 0.044
128
P ADN016 Adenocarcinoma 58 0.044
129
c CNG015 Congenital Diaphragmatic Hernia 58 0.044
130
CRD002 Cri-Du-Chat Syndrome 58 0.044
131
ANN002 Anencephaly 58 0.044
132
P JBR004 Joubert Syndrome 2 57 0.044
133
P ATR001 Atrioventricular Septal Defect 57 0.044
134
P SNS014 Sinusitis 57 0.044
135
c CTR002 Cataract 57 0.044
136
SCN006 Secondary Syphilis 56 0.044
137
P PLC011 Pilocytic Astrocytoma 56 0.044
138
P ESN001 Eosinophilic Esophagitis 56 0.044
139
DDN006 Duodenitis 55 0.044
140
ART001 Arterial Tortuosity Syndrome 55 0.044
141
LPM005 Lipomatosis 55 0.044
142
ECT006 Ectodermal Dysplasia 55 0.044
143
HMM003 Hemimegalencephaly 54 0.044
144
P ZLL001 Zellweger Syndrome 54 0.044
145
WLL001 Williams-Beuren Syndrome 54 0.044
146
CHR008 Choroiditis 53 0.044
147
MBS002 Moebius Syndrome 53 0.044
148
PTS001 Patau Syndrome 53 0.044
149
ACH005 Achalasia 53 0.044
150
RTN023 Retinitis 53 0.044
151
LNN001 Lennox-Gastaut Syndrome 53 0.044
152
MCR013 Microphthalmia 53 0.044
153
AND003 Andersen-Tawil Syndrome 53 0.044
154
P JVN007 Juvenile Absence Epilepsy 52 0.044
155
P EPL018 Epilepsy, Childhood Absence, Susceptibility to, 2 52 0.044
156
P CLF002 Cleft Palate 51 0.044
157
SHR001 Short Bowel Syndrome 51 0.044
158
MNN014 Mononeuritis 51 0.044
159
c CRD099 Cardiomyopathy, Dilated, 1e 50 0.044
160
P APL006 Aplasia Cutis Congenita 50 0.044
161
PYL006 Pyloric Stenosis 49 0.044
162
GNT031 Genitopatellar Syndrome 49 0.044
163
MLN001 Melanotic Neuroectodermal Tumor 48 0.044
164
SCH016 Schimke Immunoosseous Dysplasia 48 0.044
165
c CNT035 Central Nervous System Disease 48 0.044
166
ADR027 Adrenocortical Insufficiency 48 0.044
167
HYP231 Hypothalamic Hamartomas 48 0.044
168
HTS001 Hiatus Hernia 45 0.044
169
AGN013 Agenesis of the Corpus Callosum 44 0.044
170
CHN015 Chondrodysplasia 43 0.044
171
PRR010 Pierre Robin Sequence 43 0.044
172
TTR016 Tetra-Amelia Syndrome 43 0.044
173
ORL010 Oral-Facial-Digital Syndrome Type I 43 0.044
174
MCK002 Meckel's Diverticulum 42 0.044
175
P BRT038 Baraitser-Winter Syndrome 1 40 0.044
176
MLT054 Multiple Pterygium Syndrome Escobar Type 40 0.044
177
EXT022 Exotropia 39 0.044
178
P HYD011 Hydrolethalus Syndrome 39 0.044
179
CHL056 Cheilitis 38 0.044
180
FGS001 Fg Syndrome 38 0.044
181
VCS001 Vici Syndrome 37 0.044
182
PHC004 Phace Syndrome 36 0.044
183
BLR005 Biliary Papillomatosis 36 0.044
184
SKL017 Skeletal Dysplasias 35 0.044
185
P DYS005 Dyslexia 34 0.044
186
c CRB059 Cerebellar Degeneration 34 0.044
187
c MCR043 Microcephalic Osteodysplastic Primordial Dwarfism Type 1 34 0.044
188
FCT013 Factor V Leiden Thrombophilia 34 0.044
189
OCL034 Oculocerebrocutaneous Syndrome 33 0.044
190
SPS005 Spastic Hemiplegia 32 0.044
191
c CHR160 Chiari Malformation Type 2 32 0.044
192
c ATS059 Autosomal Dominant Hyper Ige Syndrome 31 0.044
193
CLK001 C-Like Syndrome 30 0.044
194
ACT093 Actinic Cheilitis 29 0.044
195
VNM003 Van Maldergem Syndrome 1 29 0.044
196
CRK001 Cork-Handlers' Disease 28 0.044
197
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 28 0.044
198
DND005 Dandy-Walker Complex 27 0.044
199
CRB029 Cerebellopontine Angle Tumor 24 0.044
200
c LSS009 Lissencephaly 3 24 0.044
201
c FRN037 Frontal Encephalocele 23 0.044
202
c LSS025 Lissencephaly 5 21 0.044
203
NRN022 Neurenteric Cyst 20 0.044
204
MYL044 Myelocystocele 20 0.044
205
SLT007 Solitary Rectal Ulcer Syndrome 20 0.044
206
c PRX059 Peroxisome Biogenesis Disorder 1a 18 0.044
207
VNM002 Van Maldergem Syndrome 2 14 0.044
208
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 14 0.044
209
c CNG031 Congenital Nervous System Abnormality 11 0.044
210
6QT002 6q Terminal Deletion Syndrome 9 0.044