Search results for cstb

49 hits were found for cstb

# Family MCID Name MIFTS Score
1
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 52 9.342
2
UNV001 Unverricht-Lundborg Syndrome 51 5.054
3
P EPL164 Epilepsy 71 4.696
4
P DYS154 Dystonia 65 3.160
5
ERL001 Early Myoclonic Encephalopathy 62 3.160
6
P MCR010 Microcephaly 59 3.130
7
P DMN002 Dementia 66 3.057
8
P MYC033 Myoclonus 46 2.832
9
c PRG011 Progressive Myoclonus Epilepsy 42 2.792
10
LNG015 Lingual-Facial-Buccal Dyskinesia 50 2.700
11
BNG009 Benign Epilepsy with Centrotemporal Spikes 58 2.615
12
MYC079 Myoclonic Epilepsy of Lafora 64 2.496
14
P SCL018 Scoliosis 60 2.496
15
P MYC026 Myoclonus Epilepsy 35 2.100
16
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 47 1.909
17
c CHR630 Chorea, Benign Hereditary 43 1.909
18
c PRG148 Progressive Myoclonus Epilepsy 1a 17 1.909
19
HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 36 1.825
20
P EPL198 Epilepsy, Myoclonic Juvenile 62 1.765
21
P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 48 1.765
22
GLY031 Glycoproteinosis 45 1.765
23
EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 40 1.765
24
c ALZ032 Alzheimer Disease 18 34 1.765
25
c FBR075 Febrile Seizures, Familial, 2 33 1.765
26
P ELC007 Electroclinical Syndrome 30 1.765
27
c PRG140 Progressive Myoclonus Epilepsy 4 28 1.765
28
ADL051 Adolescence-Adult Electroclinical Syndrome 24 1.765
29
NNT041 Neonatal Period Electroclinical Syndrome 23 1.765
30
c PRG145 Progressive Myoclonus Epilepsy 6 19 1.765
31
c PRG141 Progressive Myoclonus Epilepsy 10 17 1.765
32
c PRG143 Progressive Myoclonus Epilepsy 7 16 1.765
33
VSL002 Visual Epilepsy 59 0.204
34
ATS010 Autosomal Recessive Disease 48 0.125
35
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.125
36
DWN001 Down Syndrome 70 0.102
37
CHR178 Chromosomal Triplication 35 0.102
38
P GST053 Gastric Cancer 83 0.072
39
P FRG001 Fragile X Syndrome 70 0.072
40
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.072
41
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.072
42
LVR012 Liver Cirrhosis 62 0.072
43
P SZR006 Seizure Disorder 56 0.072
44
ENC055 Encephalopathy, Ethylmalonic 53 0.072
45
ALC009 Alcoholic Liver Cirrhosis 53 0.072
46
P MYT002 Myotonic Dystrophy 49 0.072
47
P HYP265 Hypotonia 43 0.072
48
HYP264 Hypertonia 38 0.072
49
CRT012 Cortical Blindness 37 0.072
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