|
1
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
|
|
27 / 7739
|
|
2
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
3
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
4
|
(HPO:0002944)
|
Thoracolumbar scoliosis |
|
|
|
|
13 / 7739
|
|
5
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
6
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
7
|
(HPO:0003306)
|
Spinal rigidity |
|
|
|
|
30 / 7739
|
|
8
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0005952)
|
Decreased pulmonary function |
|
|
|
|
8 / 7739
|
|
11
|
(HPO:0005997)
|
Restricted neck movement due to contractures |
|
|
|
|
4 / 7739
|
|
12
|
(HPO:0009025)
|
Increased connective tissue |
|
|
|
|
11 / 7739
|
|
13
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
14
|
(OMIM)
|
Limited mouth opening due to jaw contractures |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Limited neck motion due to spinal contractures |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Restrictive pulmonary function |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Decreased forced vital capacity |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Severe contractures of all joints, proximal and distal |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Muscle weakness, mild, proximal and distal |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Muscles have a woody consistency on palpation |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Muscle biopsy shows fibrosis and increased connective tissue |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Variation of myofiber diameter |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Internal nuclei |
|
|
|
|
9 / 7739
|
|
24
|
(OMIM)
|
Decreased collagen VI |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
27
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|