|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0002149)
|
Hyperuricemia |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
3
|
(HPO:0002486)
|
Myotonia |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
4
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
5
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
7
|
(HPO:0001081)
|
Cholelithiasis |
|
|
|
|
36 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
|
|
83 / 7739
|
|
10
|
(HPO:0001923)
|
Reticulocytosis |
|
|
|
|
28 / 7739
|
|
11
|
(HPO:0001997)
|
Gout |
|
|
|
|
18 / 7739
|
|
12
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
13
|
(HPO:0003573)
|
Increased total bilirubin |
|
|
|
|
10 / 7739
|
|
14
|
(HPO:0003710)
|
Exercise-induced muscle cramps |
|
|
|
|
11 / 7739
|
|
15
|
(HPO:0008305)
|
Exercise-induced myoglobinuria |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0009051)
|
Increased muscle glycogen content |
|
|
|
|
8 / 7739
|
|
17
|
(OMIM)
|
Gallstones due to hemolytic anemia |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Jaundice due to hemolytic anemia |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Gout due to increased uric acid |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Muscle fibers may contain abnormal polysaccharide |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Muscle phosphofructokinase deficiency |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Myoglobinuria with extreme exertion |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Decreased erythrocyte 2,3-diphosphoglycerate (2,3-DPG) |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
No increase of muscle lactate with ischemic exercise testing |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
27
|
(HPO:0030271)
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration |
|
|
|
|
2 / 7739
|