|
1
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0003198)
|
Myopathy |
Frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
3
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
6
|
(HPO:0002913)
|
Myoglobinuria |
|
|
|
|
22 / 7739
|
|
7
|
(HPO:0003201)
|
Rhabdomyolysis |
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0003710)
|
Exercise-induced muscle cramps |
|
|
|
|
11 / 7739
|
|
9
|
(HPO:0003738)
|
Exercise-induced myalgia |
|
|
|
|
19 / 7739
|
|
10
|
(OMIM)
|
Dark urine following exercise |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Skeletal muscle weakness |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Decreased exercise capacity |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Muscle pain and cramps following exercise |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Muscle glycogen phosphorylase deficiency |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Increased ammonia with exercise |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Increased uric acid with exercise |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|