|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
|
4
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
5
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0002058)
|
Myopathic facies |
rare [HPO:skoehler]
|
|
|
|
26 / 7739
|
|
7
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
|
9
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
10
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
11
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
12
|
(HPO:0003687)
|
Centrally nucleated skeletal muscle fibers |
|
|
|
|
15 / 7739
|
|
13
|
(HPO:0003697)
|
Scapuloperoneal amyotrophy |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0003704)
|
Scapuloperoneal weakness |
|
|
|
|
6 / 7739
|
|
15
|
(HPO:0003803)
|
Type 1 muscle fiber predominance |
|
|
|
|
12 / 7739
|