|
1
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
3
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
4
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
5
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
|
|
42 / 7739
|
|
6
|
(HPO:0011712)
|
Right bundle branch block |
rare [HPO:skoehler]
|
|
|
|
34 / 7739
|
|
7
|
(OMIM)
|
Mild proximal muscle weakness (<10% of patients) |
|
|
|
|
5 / 7739
|
|
8
|
(OMIM)
|
Decreased glycosylation of alpha-dystroglycan |
|
|
|
|
6 / 7739
|
|
9
|
(OMIM)
|
Decreased IQ |
|
|
|
|
3 / 7739
|
|
10
|
(OMIM)
|
Normal cognition |
|
|
|
|
7 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
13
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|