|
1
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
2
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
3
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
4
|
(HPO:0005144)
|
Left ventricular septal hypertrophy |
|
|
|
|
5 / 7739
|
|
5
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
|
6
|
(OMIM)
|
Neck muscle atrophy |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Ventricular and septal hypertrophy |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Mild diastolic dysfunction |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Muscle weakness and atrophy, proximal |
|
|
|
|
5 / 7739
|
|
10
|
(OMIM)
|
Muscle biopsy shows dystrophic pattern |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
12
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
13
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
14
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|