|
1
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
2
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
3
|
(HPO:0008970)
|
Scapulohumeral muscular dystrophy |
|
|
|
|
4 / 7739
|
|
4
|
(OMIM)
|
Mild facioscapulohumeral muscular dystrophy |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Muscle biopsy shows normal light-microscopic and histochemical findings |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Scattered sarcoplasmic vacuoles with storage of granular material on EM |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Excessive storage of glycosaminoglycans and glycoproteins in cultured fibroblasts |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|