| # |
|
Family |
MCID |
Name |
MIFTS |
Score |
| 1 |
|
P
|
SPN046 |
Spinal Muscular Atrophy |
62 |
57.850 |
|
| 2 |
|
c
|
SPN393 |
Spinal Muscular Atrophy, Type I |
55 |
48.989 |
|
|
| 3 |
|
c
|
SPN394 |
Spinal Muscular Atrophy, Type Iii |
52 |
43.735 |
|
|
| 4 |
|
c
|
SPN395 |
Spinal Muscular Atrophy, Type Ii |
49 |
40.227 |
|
|
| 5 |
|
P
|
MSC003 |
Muscular Atrophy |
55 |
32.629 |
|
|
| 6 |
|
c
|
SPN398 |
Spinal Muscular Atrophy, Type Iv |
43 |
29.109 |
|
|
| 7 |
|
|
NRM005 |
Neuromuscular Disease |
63 |
17.776 |
|
|
| 8 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
87 |
15.861 |
|
|
| 9 |
|
P
|
MTR014 |
Motor Neuron Disease |
64 |
15.623 |
|
|
| 10 |
|
|
PRG001 |
Progressive Muscular Atrophy |
46 |
13.355 |
|
|
| 11 |
|
P
|
DST002 |
Distal Arthrogryposis |
61 |
11.731 |
|
|
| 12 |
|
P
|
CHR654 |
Charcot-Marie-Tooth Disease, Axonal, Type 2e |
67 |
11.598 |
|
|
| 13 |
|
|
ANT007 |
Anterior Horn Cell Disease |
31 |
10.226 |
|
|
| 14 |
|
|
SPN369 |
Spinal Disease |
44 |
9.819 |
|
|
| 15 |
|
P
|
MYP004 |
Myopathy |
67 |
9.748 |
|
|
| 16 |
|
c
|
NRN037 |
Neuronopathy, Distal Hereditary Motor, Type Va |
53 |
9.609 |
|
|
| 17 |
|
P
|
MYT021 |
Myotonic Dystrophy 1 |
74 |
9.450 |
|
|
| 18 |
|
c
|
GM2006 |
Gm2 Gangliosidosis |
45 |
9.322 |
|
|
| 19 |
|
|
CHL155 |
Childhood Spinal Muscular Atrophy |
32 |
8.127 |
|
|
| 20 |
|
P
|
CHR071 |
Charcot-Marie-Tooth Disease |
64 |
7.054 |
|
|
| 21 |
|
P
|
SPN408 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
55 |
6.931 |
|
|
| 22 |
|
|
SPN404 |
Spinal and Bulbar Muscular Atrophy, X-Linked 1 |
61 |
6.931 |
|
|
| 23 |
|
P
|
PNT019 |
Pontocerebellar Hypoplasia |
46 |
6.931 |
|
|
| 24 |
|
c
|
HRD010 |
Hereditary Spastic Paraplegia |
68 |
6.931 |
|
|
| 25 |
|
P
|
NRN021 |
Neuronal Ceroid Lipofuscinosis |
61 |
6.906 |
|
|
