|
1
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
2
|
(HPO:0001270)
|
Motor delay |
rare [HPO:skoehler]
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
4
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
5
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
6
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
7
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
|
|
42 / 7739
|
|
8
|
(HPO:0012378)
|
Fatigue |
|
|
|
|
50 / 7739
|
|
9
|
(OMIM)
|
Distal joint contractures |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
11
|
(OMIM)
|
Wasting of the proximal muscles |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Biopsy shows dystrophic changes |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Decreased glycosylation of alpha-dystroglycan |
|
|
|
|
6 / 7739
|
|
14
|
(OMIM)
|
Arflexia (1 patient) |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
17
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|