|
1
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
3
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
4
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
7
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
8
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
9
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
10
|
(OMIM)
|
Contractures, late-onset |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0006785)
|
Limb-girdle muscular dystrophy |
|
|
|
|
14 / 7739
|
|
12
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
13
|
(OMIM)
|
Difficulty climbing stairs, jumping, running |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Muscle biopsy shows dystrophic features |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|