Search results for heterotopia

241 hits were found for heterotopia

# Family MCID Name MIFTS Score
1
c PRV019 Periventricular Nodular Heterotopia 1 30 8.727
2
P PRV002 Periventricular Nodular Heterotopia 44 8.160
3
PRV020 Periventricular Heterotopia with Microcephaly, Autosomal Recessive 20 6.440
4
FLN007 Flna-Related Periventricular Nodular Heterotopia 12 5.730
5
P LSS036 Lissencephaly, X-Linked, 1 45 4.645
6
SBC028 Subcortical Band Heterotopia 35 4.612
7
HTR022 Heterotopia, Periventricular, Associated with Chromosome 5p Anomalies 8 4.561
8
CHR664 Chromosome 5q14.3 Deletion Syndrome, Distal 9 4.139
9
c LSS005 Lissencephaly 1 46 3.822
10
c PRV016 Periventricular Nodular Heterotopia 6 18 3.784
11
P BND018 Band Heterotopia 42 3.762
12
SBP003 Subependymal Nodular Heterotopia 12 3.338
13
c PRV018 Periventricular Nodular Heterotopia 7 21 3.299
14
LS1001 Lis1-Associated Lissencephaly/subcortical Band Heterotopia 5 3.285
15
NSL020 Nasal Glial Heterotopia 14 2.835
16
HRD055 Hereditary Nodular Heterotopia 3 1.965
17
NDL022 Nodular Neuronal Heterotopia 12 1.927
18
c FML049 Familial Band Heterotopia 3 1.927
19
MRG004 Marginal Glioneuronal Heterotopia 2 1.927
20
SBC038 Sub-Cortical Nodular Heterotopia 5 1.905
21
CHR457 Chromosome 17p13.1 Deletion Syndrome 19 1.843
22
P EPL164 Epilepsy 70 0.267
23
NRN002 Neuronitis 43 0.223
24
P LSS002 Lissencephaly 49 0.215
25
CRB009 Cerebritis 41 0.169
26
PLY024 Polymicrogyria 36 0.169
27
PLY110 Polymicrogyria, Bilateral Temporooccipital 32 0.158
28
P ENC008 Encephalocele 48 0.140
29
NRN016 Neuronal Migration Disorders 42 0.140
30
P EHL001 Ehlers-Danlos Syndrome 61 0.133
31
P ANR048 Aniridia 1 68 0.126
32
ANR038 Anorexia Nervosa 1 21 0.126
33
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.126
34
BLD137 Blood Group--Ahonen 17 0.126
35
PCH002 Pachygyria 38 0.119
36
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.112
37
P THN009 Thanatophoric Dysplasia, Type I 66 0.103
38
P MCR010 Microcephaly 57 0.103
39
P MGL013 Megalencephaly 54 0.103
40
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 31 0.103
41
ALR002 Al-Raqad Syndrome 30 0.103
42
P HYD006 Hydrocephalus 68 0.094
43
P GLM045 Glioma 61 0.094
44
WST001 West Syndrome 57 0.094
45
VNM003 Van Maldergem Syndrome 1 38 0.094
46
P AST007 Astrocytoma 66 0.084
47
P PNC044 Pancreatitis 64 0.084
48
ACR012 Aicardi Syndrome 49 0.084
49
CRB045 Cerebellar Hypoplasia 48 0.084
50
VCS001 Vici Syndrome 46 0.084
51
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.084
52
P BRT040 Baraitser-Winter Syndrome 36 0.084
53
CHD004 Chudley-Mccullough Syndrome 30 0.084
54
c LSS025 Lissencephaly 5 24 0.084
55
VNM002 Van Maldergem Syndrome 2 22 0.084
56
6QT002 6q Terminal Deletion Syndrome 20 0.084
57
P FRG001 Fragile X Syndrome 69 0.073
58
P HLP001 Holoprosencephaly 67 0.073
59
CLF027 Cleft Palate, Isolated 61 0.073
60
P HMN010 Hemangioma 61 0.073
61
CHL067 Cholecystitis 58 0.073
62
P THY032 Thyroiditis 56 0.073
63
TMP001 Temporal Lobe Epilepsy 54 0.073
64
HYP691 Hypomelanosis of Ito 49 0.073
65
P MNN007 Meningocele 38 0.073
66
P LSS024 Lissencephaly with Cerebellar Hypoplasia 37 0.073
67
MLN014 Melnick-Needles Syndrome 37 0.073
68
c BLD140 Blood Group, I System 37 0.073
69
CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 35 0.073
70
CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32 0.073
71
c CNG031 Congenital Nervous System Abnormality 30 0.073
72
c LSS009 Lissencephaly 3 22 0.073
73
P ADN016 Adenocarcinoma 71 0.060
74
SMT004 Smith-Lemli-Opitz Syndrome 70 0.060
75
P TBR001 Tuberous Sclerosis 69 0.060
76
P JBR020 Joubert Syndrome 1 68 0.060
77
P CRN037 Craniosynostosis 68 0.060
78
LNG099 Lung Disease 67 0.060
79
P PRT008 Proteus Syndrome 67 0.060
80
P PLC011 Pilocytic Astrocytoma 63 0.060
81
CHR619 Chromosome 2q35 Duplication Syndrome 62 0.060
82
P DYS154 Dystonia 61 0.060
83
CNS004 Constipation 57 0.060
84
P ZLL001 Zellweger Syndrome 56 0.060
85
P HYP076 Hyperthyroidism 56 0.060
86
P CHL002 Childhood Absence Epilepsy 56 0.060
87
HDC001 Headache 55 0.060
88
P SZR006 Seizure Disorder 55 0.060
89
SMT008 Smith-Magenis Syndrome 54 0.060
90
P HYD033 Hydrolethalus Syndrome 1 54 0.060
91
HMP005 Hemiplegia 54 0.060
92
P LFT003 Left Ventricular Noncompaction 52 0.060
93
c ORF037 Orofaciodigital Syndrome I 51 0.060
94
KBG001 Kbg Syndrome 51 0.060
95
P LPM005 Lipomatosis 50 0.060
96
JCB001 Jacobsen Syndrome 50 0.060
97
P CRV039 Cervicitis 49 0.060
98
LRN003 Learning Disability 49 0.060
99
HYP231 Hypothalamic Hamartomas 49 0.060
100
MLL018 Miller-Dieker Lissencephaly Syndrome 47 0.060
101
HMM003 Hemimegalencephaly 47 0.060
102
DDN006 Duodenitis 46 0.060
103
ARC002 Arachnoiditis 45 0.060
104
OPT054 Opitz-Kaveggia Syndrome 45 0.060
105
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 44 0.060
106
P FRN012 Frontometaphyseal Dysplasia 43 0.060
107
GNT031 Genitopatellar Syndrome 43 0.060
108
c CHR579 Chiari Malformation Type Ii 42 0.060
109
c PRX059 Peroxisome Biogenesis Disorder 1a 41 0.060
110
c SPL067 Split-Hand/foot Malformation 1 40 0.060
111
BHR002 Bohring-Opitz Syndrome 39 0.060
112
ARC007 Arachnoid Cysts 39 0.060
113
c BRT038 Baraitser-Winter Syndrome 1 37 0.060
114
OBS004 Obstructive Hydrocephalus 37 0.060
115
ALB014 Alobar Holoprosencephaly 37 0.060
116
P CMM008 Communicating Hydrocephalus 35 0.060
117
OCL034 Oculocerebrocutaneous Syndrome 33 0.060
118
CHR523 Chromosome 15q11.2 Deletion Syndrome 29 0.060
119
AMN009 Amniotic Band Syndrome 29 0.060
120
c PSD107 Pseudo-Torch Syndrome 2 27 0.060
121
ARM010 Arima Syndrome 26 0.060
122
16Q001 16q24.3 Microdeletion Syndrome 26 0.060
123
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 25 0.060
124
BLD163 Blood Group, Dombrock System 23 0.060
125
CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 20 0.060
126
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 20 0.060
127
LMB013 Limb Reduction Defect 16 0.060
128
P RTN008 Retinitis Pigmentosa 81 0.042
129
P HPT021 Hepatitis 75 0.042
130
ALP046 Alport Syndrome, X-Linked 74 0.042
131
P MNN013 Meningitis 71 0.042
132
c BSL007 Basal Cell Carcinoma 66 0.042
133
P CLC063 Celiac Disease 1 65 0.042
134
P ESP024 Esophagitis 64 0.042
135
WLL001 Williams-Beuren Syndrome 63 0.042
136
c DPH024 Diaphragmatic Hernia, Congenital 63 0.042
137
MSM014 Mismatch Repair Cancer Syndrome 63 0.042
138
P SNS014 Sinusitis 62 0.042
139
MCR013 Microphthalmia 61 0.042
140
P GST044 Gastritis 61 0.042
141
ANR040 Aneurysm 61 0.042
142
P CTR002 Cataract 60 0.042
143
P BCK002 Beckwith-Wiedemann Syndrome 58 0.042
144
PTT046 Pituitary Hormone Deficiency, Combined, 2 57 0.042
145
ANN002 Anencephaly 57 0.042
146
ZLL002 Zollinger-Ellison Syndrome 57 0.042
147
INC021 Incontinentia Pigmenti 57 0.042
148
FCL009 Focal Dermal Hypoplasia 57 0.042
149
P RNL100 Renal Hypodysplasia/aplasia 1 57 0.042
150
PRR016 Pierre Robin Syndrome 57 0.042
151
ECT006 Ectodermal Dysplasia 57 0.042
152
FCL014 Focal Epilepsy 56 0.042
153
P MSC003 Muscular Atrophy 55 0.042
154
P ESP035 Esophagitis, Eosinophilic, 1 55 0.042
155
STR020 Strabismus 55 0.042
156
P ICH004 Ichthyosis 54 0.042
157
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53 0.042
158
MLT163 Multiple Pterygium Syndrome, Escobar Variant 53 0.042
159
P SCH018 Schizencephaly 53 0.042
160
P TRT010 Teratoma 53 0.042
161
ILT001 Ileitis 52 0.042
162
GRW007 Growth Hormone Deficiency 52 0.042
163
RTN023 Retinitis 52 0.042
164
P SHR001 Short Bowel Syndrome 52 0.042
165
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 52 0.042
166
P FNC043 Fanconi Anemia, Complementation Group E 52 0.042
167
ACH005 Achalasia 52 0.042
168
CHN055 Chanarin-Dorfman Syndrome 51 0.042
169
PTS001 Patau Syndrome 50 0.042
170
P APL006 Aplasia Cutis Congenita 50 0.042
171
ACH022 Achalasia-Addisonianism-Alacrima Syndrome 50 0.042
172
SKL017 Skeletal Dysplasias 48 0.042
173
c LBR014 Leber Congenital Amaurosis 4 48 0.042
174
CHL056 Cheilitis 47 0.042
175
CHR008 Choroiditis 47 0.042
176
CRD002 Cri-Du-Chat Syndrome 47 0.042
177
HYP748 Hypertelorism 46 0.042
178
c ATS275 Autosomal Recessive Primary Microcephaly 43 0.042
179
c ACR116 Aicardi-Goutieres Syndrome 1 43 0.042
180
P CHN044 Chondrodysplasia Punctata Syndrome 43 0.042
181
ACT093 Actinic Cheilitis 42 0.042
182
c BSL024 Basal Cell Carcinoma 1 42 0.042
183
EXT022 Exotropia 41 0.042
184
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.042
185
P CRB059 Cerebellar Degeneration 40 0.042
186
c HLP024 Holoprosencephaly 2 40 0.042
187
P DYS005 Dyslexia 39 0.042
188
P FRN036 Frontonasal Dysplasia 1 39 0.042
189
c CNG413 Congenital Short Bowel Syndrome 39 0.042
190
ATS008 Autosomal Dominant Disease 39 0.042
191
BMR001 Boomerang Dysplasia 39 0.042
192
P KLN006 Koolen-De Vries Syndrome 38 0.042
193
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 38 0.042
194
ACR041 Acromelic Frontonasal Dysostosis 38 0.042
195
P ATL001 Atelosteogenesis 38 0.042
196
c OTP007 Otopalatodigital Syndrome, Type Ii 38 0.042
197
CRB029 Cerebellopontine Angle Tumor 38 0.042
198
c HYD060 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 38 0.042
199
c OTP006 Otopalatodigital Syndrome, Type I 38 0.042
200
RNL025 Renal Hypoplasia 37 0.042
201
BLR005 Biliary Papillomatosis 36 0.042
202
PHC004 Phace Syndrome 36 0.042
203
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 36 0.042
204
CHR178 Chromosomal Triplication 35 0.042
205
PSD001 Pseudobulbar Palsy 35 0.042
206
VTM001 Vitamin K Deficiency Hemorrhagic Disease 35 0.042
207
P PRS013 Prosopagnosia 34 0.042
208
MLN001 Melanotic Neuroectodermal Tumor 34 0.042
209
c APL023 Aplasia Cutis Congenita, Nonsyndromic 34 0.042
210
PLY161 Polymicrogyria, Bilateral Perisylvian, X-Linked 34 0.042
211
CRY032 Carey-Fineman-Ziter Syndrome 33 0.042
212
MST019 Mastoiditis 33 0.042
213
DND005 Dandy-Walker Complex 33 0.042
214
INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 32 0.042
215
MLN011 Malonyl-Coa Decarboxylase Deficiency 32 0.042
216
c FRN049 Frontometaphyseal Dysplasia 1 31 0.042
217
ADN014 Adenomatoid Tumor 30 0.042
218
NRN022 Neurenteric Cyst 30 0.042
219
BRT055 Breath-Holding Spells 30 0.042
220
c RNG022 Ring Chromosome 6 29 0.042
221
FNT005 Fontaine Progeroid Syndrome 28 0.042
222
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.042
223
VNM004 Van Maldergem Syndrome 26 0.042
224
c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26 0.042
225
MYL044 Myelocystocele 25 0.042
226
PRT101 Poretti-Boltshauser Syndrome 24 0.042
227
P PRM016 Primary Optic Atrophy 23 0.042
228
c MNT143 Mental Retardation, Autosomal Dominant 13 23 0.042
229
c JBR042 Joubert Syndrome 23 22 0.042
230
VNT030 Ventriculomegaly with Cystic Kidney Disease 22 0.042
231
EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 21 0.042
232
c ORF046 Orofaciodigital Syndrome Xvi 21 0.042
233
LSS039 Lissencephaly 6 with Microcephaly 20 0.042
234
CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 20 0.042
235
CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19 0.042
236
c JBR040 Joubert Syndrome 30 19 0.042
237
c ACQ050 Acquired Schizencephaly 18 0.042
238
c CRB095 Cerebral Palsy, Spastic Quadriplegic, 3 17 0.042
239
SLT007 Solitary Rectal Ulcer Syndrome 16 0.042
240
ALK024 Alkuraya-Kucinskas Syndrome 13 0.042
241
SHR113 Short-Rib Thoracic Dysplasia 18 with Polydactyly 12 0.042
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