# |
|
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 |
|
13 |
|
c
|
CRB172 |
Cerebral Amyloid Angiopathy, Cst3-Related |
61 |
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 |
|