|
1
|
(HPO:0000707)
|
Abnormality of the nervous system |
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
3
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
4
|
(HPO:0008970)
|
Scapulohumeral muscular dystrophy |
|
|
|
|
4 / 7739
|
|
5
|
(OMIM)
|
No contractures |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
No sensory abnormalities |
|
|
|
|
5 / 7739
|
|
7
|
(OMIM)
|
No dysarthria |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Minimal elevation of creatine kinase |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Low amplitude, short duration, and polyphasic units on EMG |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Excessive variation of muscle fiber size and scattered fibers with internal nuclei, but no fiber type grouping on ATPase preparations |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
|
12
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
13
|
(OMIM)
|
Often marked asymmetry of weakness |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
No facial weakness |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
No distal weakness |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|