Search results for "heterotopia"

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

205 hits were found for 'heterotopia'

# Family MCID Name MIFTS Score
1
P HTR015 Heterotopia, Periventricular 46 9.452
2
c FLN007 Flna-Related Periventricular Nodular Heterotopia 14 6.151
3
PRV007 Periventricular Heterotopia with Microcephaly 23 6.019
4
c HTR007 Heterotopia, Periventricular, Ed Variant 20 5.163
5
P SBC028 Subcortical Band Heterotopia 34 4.539
6
P PRV016 Periventricular Nodular Heterotopia 6 20 4.113
7
P LSS027 Lissencephaly, X-Linked 41 4.085
8
c LSS005 Lissencephaly 1 38 3.711
9
P BND018 Band Heterotopia 34 3.706
10
LS1001 Lis1-Associated Lissencephaly/subcortical Band Heterotopia 8 3.682
11
c PRV013 Periventricular Nodular Heterotopia 3 13 3.633
12
SBP003 Subependymal Nodular Heterotopia 11 3.267
13
c PRV018 Periventricular Nodular Heterotopia 7 11 3.193
14
c PRV014 Periventricular Nodular Heterotopia 5 14 3.156
15
NSL020 Nasal Glial Heterotopia 11 2.761
16
DCX001 Dcx-Related Disorders 17 2.593
17
HRD055 Hereditary Nodular Heterotopia 3 1.926
18
NDL022 Nodular Neuronal Heterotopia 9 1.886
19
c FML049 Familial Band Heterotopia 3 1.886
20
MRG004 Marginal Glioneuronal Heterotopia 2 1.886
21
c DCX003 Dcx-Related Subcortical Band Heterotopia 5 1.862
22
SBC038 Sub-Cortical Nodular Heterotopia 5 1.862
23
17L003 17-Linked Subcortical Band Heterotopia 2 1.862
24
CHR457 Chromosome 17p13.1 Deletion Syndrome 17 1.796
25
P EPL164 Epilepsy 66 0.254
26
NRN002 Neuronitis 41 0.233
27
P LSS002 Lissencephaly 49 0.224
28
CRB009 Cerebritis 39 0.174
29
PLY024 Polymicrogyria 35 0.162
30
P EHL001 Ehlers-Danlos Syndrome 63 0.142
31
P ENC008 Encephalocele 48 0.142
32
NRN016 Neuronal Migration Disorders 42 0.142
33
PCH002 Pachygyria 39 0.119
34
P MCR010 Microcephaly 58 0.110
35
P INT063 Intellectual Disability 49 0.110
36
P THN009 Thanatophoric Dysplasia, Type I 63 0.100
37
P GLM045 Glioma 60 0.100
38
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.100
39
P SYN001 Syndactyly 53 0.100
40
MGL013 Megalencephaly 52 0.100
41
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.100
42
ALR002 Al-Raqad Syndrome 36 0.100
43
P HYD006 Hydrocephalus 66 0.090
44
P AST007 Astrocytoma 65 0.090
45
P PNC044 Pancreatitis 61 0.090
46
WST001 West Syndrome 57 0.090
47
P BRT040 Baraitser-Winter Syndrome 31 0.090
48
6QT002 6q Terminal Deletion Syndrome 16 0.090
49
P HLP001 Holoprosencephaly 63 0.078
50
CHL067 Cholecystitis 57 0.078
51
P THY032 Thyroiditis 54 0.078
52
VCS001 Vici Syndrome 43 0.078
53
CHD004 Chudley-Mccullough Syndrome 37 0.078
54
P MNN007 Meningocele 36 0.078
55
c LSS025 Lissencephaly 5 23 0.078
56
AND005 Androgen Insensitivity Syndrome, Mild 16 0.078
57
P ADN016 Adenocarcinoma 69 0.063
58
P FRG001 Fragile X Syndrome 69 0.063
59
P PLC011 Pilocytic Astrocytoma 60 0.063
60
PRT093 Proteus Syndrome, Somatic 56 0.063
61
P SZR006 Seizure Disorder 56 0.063
62
ZLL001 Zellweger Syndrome 56 0.063
63
TMP001 Temporal Lobe Epilepsy 50 0.063
64
c ATS275 Autosomal Recessive Primary Microcephaly 48 0.063
65
LPM005 Lipomatosis 47 0.063
66
HMM003 Hemimegalencephaly 45 0.063
67
P CRV039 Cervicitis 45 0.063
68
HYP691 Hypomelanosis of Ito 42 0.063
69
DDN006 Duodenitis 42 0.063
70
c PRX059 Peroxisome Biogenesis Disorder 1a 39 0.063
71
ALB014 Alobar Holoprosencephaly 35 0.063
72
HYP231 Hypothalamic Hamartomas 34 0.063
73
c LSS009 Lissencephaly 3 24 0.063
74
16Q001 16q24.3 Microdeletion Syndrome 20 0.063
75
VNM003 Van Maldergem Syndrome 1 20 0.063
76
VNM002 Van Maldergem Syndrome 2 19 0.063
77
P RTN008 Retinitis Pigmentosa 80 0.045
78
P HPT021 Hepatitis 69 0.045
79
P TBR001 Tuberous Sclerosis 67 0.045
80
VSC007 Vascular Disease 67 0.045
81
P MNN013 Meningitis 67 0.045
82
SMT004 Smith-Lemli-Opitz Syndrome 66 0.045
83
P CRN037 Craniosynostosis 66 0.045
84
P DYS154 Dystonia 65 0.045
85
c BSL007 Basal Cell Carcinoma 65 0.045
86
LNG099 Lung Disease 64 0.045
87
CHR103 Charge Syndrome 62 0.045
88
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 62 0.045
89
P KLL001 Kallmann Syndrome 61 0.045
90
P ESP024 Esophagitis 61 0.045
91
c ATM010 Autoimmune Hemolytic Anemia 61 0.045
92
P SNS014 Sinusitis 60 0.045
93
MCR013 Microphthalmia 60 0.045
94
P CNG015 Congenital Diaphragmatic Hernia 60 0.045
95
P HMN010 Hemangioma 59 0.045
96
INC021 Incontinentia Pigmenti 59 0.045
97
P CTR002 Cataract 58 0.045
98
CNS004 Constipation 57 0.045
99
ANR040 Aneurysm 57 0.045
100
P BCK002 Beckwith-Wiedemann Syndrome 56 0.045
101
P GST044 Gastritis 56 0.045
102
P CHL002 Childhood Absence Epilepsy 55 0.045
103
P FNC043 Fanconi Anemia, Complementation Group E 55 0.045
104
P HYP076 Hyperthyroidism 55 0.045
105
ANN002 Anencephaly 54 0.045
106
HDC001 Headache 54 0.045
107
FCL009 Focal Dermal Hypoplasia 54 0.045
108
HYP080 Hypogonadism 53 0.045
109
ZLL002 Zollinger-Ellison Syndrome 53 0.045
110
ACH005 Achalasia 52 0.045
111
P ATR001 Atrioventricular Septal Defect 52 0.045
112
P FRC002 Fructose Intolerance 52 0.045
113
P SCH018 Schizencephaly 52 0.045
114
P ICH004 Ichthyosis 52 0.045
115
ECT006 Ectodermal Dysplasia 52 0.045
116
P APL006 Aplasia Cutis Congenita 52 0.045
117
P PTN002 Patent Ductus Arteriosus 52 0.045
118
P TRT010 Teratoma 52 0.045
119
SMT008 Smith-Magenis Syndrome 52 0.045
120
P STR020 Strabismus 51 0.045
121
P HYD011 Hydrolethalus Syndrome 51 0.045
122
P PRC019 Precocious Puberty 51 0.045
123
HMP005 Hemiplegia 51 0.045
124
GRW007 Growth Hormone Deficiency 50 0.045
125
P LFT003 Left Ventricular Noncompaction 50 0.045
126
RTN023 Retinitis 50 0.045
127
P MSC003 Muscular Atrophy 50 0.045
128
KLN001 Klinefelter's Syndrome 50 0.045
129
PTS001 Patau Syndrome 49 0.045
130
P SHR001 Short Bowel Syndrome 49 0.045
131
CHN055 Chanarin-Dorfman Syndrome 49 0.045
132
LRN003 Learning Disability 49 0.045
133
c CNT075 Central Precocious Puberty 49 0.045
134
c CNG411 Congenital Disorder of Glycosylation, Type in 49 0.045
135
ILT001 Ileitis 49 0.045
136
CRB045 Cerebellar Hypoplasia 48 0.045
137
HMG002 Hemoglobinuria 48 0.045
138
CMR002 Coumarin Resistance 48 0.045
139
KBG001 Kbg Syndrome 48 0.045
140
JCB001 Jacobsen Syndrome 48 0.045
141
CRD002 Cri-Du-Chat Syndrome 48 0.045
142
c CNG206 Congenital Disorder of Glycosylation, Type Ie 47 0.045
143
SKL014 Skeletal Dysplasia 46 0.045
144
CHL056 Cheilitis 46 0.045
145
P FRN012 Frontometaphyseal Dysplasia 46 0.045
146
c ORF037 Orofaciodigital Syndrome I 46 0.045
147
ACR012 Aicardi Syndrome 46 0.045
148
c CNG415 Congenital Disorder of Glycosylation, Type Ia 45 0.045
149
VSC047 Vascular Malformation 45 0.045
150
MLL018 Miller-Dieker Lissencephaly Syndrome 45 0.045
151
SKL017 Skeletal Dysplasias 45 0.045
152
CHR008 Choroiditis 44 0.045
153
ARC002 Arachnoiditis 41 0.045
154
ATS008 Autosomal Dominant Disease 39 0.045
155
GNT031 Genitopatellar Syndrome 39 0.045
156
EXT022 Exotropia 39 0.045
157
ARC007 Arachnoid Cysts 39 0.045
158
GND003 Gonadal Disease 39 0.045
159
ACT093 Actinic Cheilitis 38 0.045
160
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 38 0.045
161
c CHR579 Chiari Malformation Type Ii 37 0.045
162
P DYS005 Dyslexia 37 0.045
163
c CNG031 Congenital Nervous System Abnormality 37 0.045
164
MLN001 Melanotic Neuroectodermal Tumor 37 0.045
165
HYP064 Hypogonadotropism 37 0.045
166
P CMM008 Communicating Hydrocephalus 36 0.045
167
TTR016 Tetra-Amelia Syndrome 36 0.045
168
c CNG413 Congenital Short Bowel Syndrome 36 0.045
169
NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 36 0.045
170
MCK002 Meckel's Diverticulum 35 0.045
171
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 35 0.045
172
c BRT038 Baraitser-Winter Syndrome 1 35 0.045
173
c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 35 0.045
174
MLN014 Melnick-Needles Syndrome 35 0.045
175
BHR002 Bohring-Opitz Syndrome 35 0.045
176
OBS004 Obstructive Hydrocephalus 34 0.045
177
BLR005 Biliary Papillomatosis 34 0.045
178
P CRB059 Cerebellar Degeneration 34 0.045
179
CRB029 Cerebellopontine Angle Tumor 33 0.045
180
MST019 Mastoiditis 32 0.045
181
OPT054 Opitz-Kaveggia Syndrome 32 0.045
182
PRS013 Prosopagnosia 31 0.045
183
P ATX010 Ataxia Neuropathy Spectrum 30 0.045
184
ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 29 0.045
185
c RTN140 Retinitis Pigmentosa 67 29 0.045
186
IDP034 Idiopathic Central Precocious Puberty 29 0.045
187
PHC004 Phace Syndrome 27 0.045
188
OCL034 Oculocerebrocutaneous Syndrome 27 0.045
189
P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 26 0.045
190
NRN022 Neurenteric Cyst 26 0.045
191
AMN009 Amniotic Band Syndrome 26 0.045
192
MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 26 0.045
193
DND005 Dandy-Walker Complex 25 0.045
194
c RNG022 Ring Chromosome 6 23 0.045
195
PLY110 Polymicrogyria, Bilateral Temporooccipital 23 0.045
196
MYL044 Myelocystocele 21 0.045
197
c NSP014 Nasopharyngeal Carcinoma, 3 21 0.045
198
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 19 0.045
199
SLT007 Solitary Rectal Ulcer Syndrome 19 0.045
200
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 18 0.045
201
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 18 0.045
202
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 17 0.045
203
LMB013 Limb Reduction Defect 16 0.045
204
P HRD043 Hereditary Congenital Facial Paresis 16 0.045
205
c BNG076 Benign Exophthalmos Syndrome 15 0.045