| 1 |
c |
CNG648 |
Congenital Myopathy 12
|
37 |
| 2 |
|
MSC157 |
Muscular Dystrophy, Duchenne Type
|
81 |
| 3 |
c |
TNX002 |
Tnxb-Related Classical-Like Ehlers-Danlos Syndrome
|
11 |
| 4 |
|
ABR010 |
Abri Amyloidosis
|
16 |
| 5 |
c |
EHL089 |
Ehlers-Danlos Syndrome, Classic-Like, 2
|
34 |
| 6 |
c |
EHL081 |
Ehlers-Danlos Syndrome, Classic-Like
|
39 |
| 7 |
|
PYM001 |
Pyomyositis
|
41 |
| 8 |
|
MTB008 |
Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration
|
48 |
| 9 |
c |
EHL074 |
Ehlers-Danlos Syndrome, Classic Type, 2
|
53 |
| 10 |
|
ALV005 |
Alveolar Soft Part Sarcoma
|
55 |
| 11 |
P |
CLS054 |
Classic Ehlers-Danlos Syndrome
|
56 |
| 12 |
c |
EHL073 |
Ehlers-Danlos Syndrome, Classic Type, 1
|
59 |
| 13 |
|
CNG643 |
Congenital Myopathy 3 with Rigid Spine
|
60 |
| 14 |
|
EPL131 |
Epilepsy, Pyridoxine-Dependent
|
61 |
| 15 |
P |
HYP097 |
Hyperekplexia
|
61 |
| 16 |
|
OST024 |
Osteoporosis-Pseudoglioma Syndrome
|
62 |
| 17 |
|
CHL031 |
Childhood Vagina Botryoid Rhabdomyosarcoma
|
6 |
| 18 |
c |
PTT042 |
Pitt-Hopkins-Like Syndrome
|
23 |
| 19 |
c |
SPS198 |
Spastic Paraplegia 16, X-Linked
|
30 |
| 20 |
c |
SPS062 |
Spastic Paraplegia 34, X-Linked
|
32 |
