| # |
|
Family |
MCID |
Name |
MIFTS |
Score |
| 1 |
|
c
|
CHR422 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
50 |
74.541 |
|
| 2 |
|
c
|
MYP123 |
Myopathy, Centronuclear, 1 |
53 |
68.949 |
|
|
| 3 |
|
P
|
CNT004 |
Centronuclear Myopathy |
54 |
35.082 |
|
|
| 4 |
|
c
|
LTH027 |
Lethal Congenital Contracture Syndrome 5 |
25 |
30.393 |
|
|
| 5 |
|
P
|
MYP004 |
Myopathy |
67 |
29.418 |
|
|
| 6 |
|
P
|
CHR071 |
Charcot-Marie-Tooth Disease |
64 |
22.437 |
|
|
| 7 |
|
|
MYP136 |
Myopathy, Centronuclear, X-Linked |
62 |
21.897 |
|
|
| 8 |
|
P
|
NRP001 |
Neuropathy |
58 |
15.966 |
|
|
| 9 |
|
P
|
CHR654 |
Charcot-Marie-Tooth Disease, Axonal, Type 2e |
67 |
12.306 |
|
|
| 10 |
|
|
TTH006 |
Tooth Disease |
47 |
12.251 |
|
|
| 11 |
|
|
BTT016 |
Batten-Turner Congenital Myopathy |
59 |
12.155 |
|
|
| 12 |
|
P
|
PTS002 |
Ptosis |
53 |
12.153 |
|
|
| 13 |
|
P
|
PRP019 |
Peripheral Nervous System Disease |
63 |
10.865 |
|
|
| 14 |
|
c
|
CHR025 |
Charcot-Marie-Tooth Disease Intermediate Type |
35 |
10.573 |
|
|
| 15 |
|
P
|
LTH003 |
Lethal Congenital Contracture Syndrome |
39 |
10.552 |
|
|
| 16 |
|
|
CHR629 |
Charcot-Marie-Tooth Disease and Deafness |
58 |
9.870 |
|
|
| 17 |
|
P
|
NRP063 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
66 |
9.870 |
|
|
| 18 |
|
P
|
DST002 |
Distal Arthrogryposis |
61 |
9.739 |
|
|
| 19 |
|
P
|
FRG001 |
Fragile X Syndrome |
69 |
9.609 |
|
|
| 20 |
|
|
NRM005 |
Neuromuscular Disease |
63 |
9.523 |
|
|
| 21 |
|
c
|
HRD010 |
Hereditary Spastic Paraplegia |
68 |
8.102 |
|
|
| 22 |
|
|
CNT105 |
Central Core Disease of Muscle |
62 |
7.769 |
|
|
| 23 |
|
c
|
CHR646 |
Charcot-Marie-Tooth Disease, Axonal, Type 2b |
51 |
7.264 |
|
|
| 24 |
|
c
|
MYP131 |
Myopathy, Centronuclear, 2 |
50 |
7.185 |
|
|
| 25 |
|
c
|
CHR371 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
43 |
7.055 |
|
|
