| # |
|
Family |
MCID |
Name |
MIFTS |
Score |
| 1 |
|
c
|
ART061 |
Arthrogryposis, Distal, Type 2a |
60 |
57.637 |
|
| 2 |
|
P
|
CNT116 |
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a |
54 |
45.505 |
|
|
| 3 |
|
c
|
ART157 |
Arthrogryposis, Distal, Type 2b3 |
41 |
40.227 |
|
|
| 4 |
|
c
|
ART155 |
Arthrogryposis, Distal, Type 2b1 |
50 |
38.378 |
|
|
| 5 |
|
|
SPN060 |
Spondylocarpotarsal Synostosis Syndrome |
50 |
32.475 |
|
|
| 6 |
|
|
CNT117 |
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b |
26 |
32.253 |
|
|
| 7 |
|
P
|
DST002 |
Distal Arthrogryposis |
61 |
25.079 |
|
|
| 8 |
|
c
|
ART144 |
Arthrogryposis, Distal, Type 1a |
65 |
21.145 |
|
|
| 9 |
|
|
MLT163 |
Multiple Pterygium Syndrome, Escobar Variant |
68 |
19.874 |
|
|
| 10 |
|
|
SYN005 |
Synostosis |
44 |
12.964 |
|
|
| 11 |
|
c
|
ART119 |
Arthrogryposis, Distal, Type 5 |
53 |
12.960 |
|
|
| 12 |
|
P
|
SCL018 |
Scoliosis |
56 |
12.448 |
|
|
|
|
| 14 |
|
P
|
MYP004 |
Myopathy |
67 |
11.448 |
|
|
| 15 |
|
|
FCS012 |
Facioscapulohumeral Muscular Dystrophy 1 |
62 |
10.016 |
|
|
| 16 |
|
c
|
MYP125 |
Myopathy, Distal, 1 |
51 |
7.379 |
|
|
| 17 |
|
|
HYL005 |
Hyaline Body Myopathy |
46 |
7.379 |
|
|
| 18 |
|
c
|
DLT002 |
Dilated Cardiomyopathy |
79 |
7.339 |
|
|
| 19 |
|
|
NRM005 |
Neuromuscular Disease |
63 |
7.339 |
|
|
| 20 |
|
c
|
CRD086 |
Cardiomyopathy, Familial Hypertrophic, 1 |
73 |
7.230 |
|
|
| 21 |
|
|
PST049 |
Postaxial Acrofacial Dysostosis |
52 |
7.230 |
|
|
| 22 |
|
c
|
ART112 |
Arthrogryposis, Distal, Type 10 |
37 |
7.230 |
|
|
| 23 |
|
P
|
HYP061 |
Hypertrophic Cardiomyopathy |
69 |
7.230 |
|
|
| 24 |
|
c
|
ART147 |
Arthrogryposis, Distal, Type 7 |
48 |
7.082 |
|
|
| 25 |
|
c
|
ART104 |
Arthrogryposis, Distal, Type 5d |
43 |
7.082 |
|
|
