|
1
|
(HPO:0002486)
|
Myotonia |
Very frequent [IBIS]
|
|
20301639
|
IBIS
|
29 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [IBIS]
|
|
9829282
|
IBIS
|
859 / 7739
|
|
3
|
(HPO:0003326)
|
Myalgia |
Frequent [IBIS]
|
|
24803843
|
IBIS
|
143 / 7739
|
|
4
|
(HPO:0003554)
|
Type 2 muscle fiber atrophy |
Frequent [IBIS]
|
|
24803843
|
IBIS
|
14 / 7739
|
|
5
|
(OMIM)
|
Centrally located nuclei seen on muscle biopsy |
Frequent [IBIS]
|
|
24803843
|
IBIS
|
1 / 7739
|
|
6
|
(OMIM)
|
Nuclear clumps |
Frequent [IBIS]
|
|
24803843
|
IBIS
|
1 / 7739
|
|
7
|
(HPO:0001337)
|
Tremor |
Frequent [IBIS]
|
|
24803843
|
IBIS
|
200 / 7739
|
|
8
|
(HPO:0008981)
|
Calf muscle hypertrophy |
Frequent [IBIS]
|
|
24803843
|
IBIS
|
28 / 7739
|
|
9
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
Frequent [IBIS]
|
|
24803843
|
IBIS
|
24 / 7739
|
|
10
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
82%(n=40)
|
21911698
|
IBIS
|
214 / 7739
|
|
11
|
(HPO:0004315)
|
IgG deficiency |
|
75%(n=16)
|
21911698
|
IBIS
|
38 / 7739
|
|
12
|
(HPO:0003124)
|
Hypercholesterolemia |
|
62%(n=24)
|
21911698
|
IBIS
|
53 / 7739
|
|
13
|
(OMIM)
|
Increased lactate dehydrogenase |
|
50%(n=18)
|
21911698
|
IBIS
|
2 / 7739
|
|
14
|
(OMIM)
|
Decreased creatine |
|
48%(n=27)
|
21911698
|
IBIS
|
1 / 7739
|
|
15
|
(HPO:0003075)
|
Hypoproteinemia |
|
43%(n=23)
|
21911698
|
IBIS
|
27 / 7739
|
|
16
|
(HPO:0003074)
|
Hyperglycemia |
|
43%(n=30)
|
21911698
|
IBIS
|
37 / 7739
|
|
17
|
(OMIM)
|
Elevated gamma-glutamyltransferase |
|
33%(n=15)
|
21911698
|
IBIS
|
2 / 7739
|
|
18
|
(OMIM)
|
Decreased absolute lymphocytes |
|
25%(n=32)
|
21911698
|
IBIS
|
1 / 7739
|
|
19
|
(HPO:0002850)
|
IgM deficiency |
|
12%(n=17)
|
21911698
|
IBIS
|
18 / 7739
|
|
20
|
(HPO:0000518)
|
Cataract |
|
|
9829282
|
IBIS
|
454 / 7739
|
|
21
|
(HPO:0000135)
|
Hypogonadism |
|
|
24803843
|
IBIS
|
89 / 7739
|
|
22
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
9829282
|
IBIS
|
131 / 7739
|
|
23
|
(HPO:0002292)
|
Frontal balding |
|
|
9829282
|
IBIS
|
4 / 7739
|
|
24
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
24803843
|
IBIS
|
105 / 7739
|
|
25
|
(HPO:0007889)
|
Iridescent posterior subcapsular cataract |
|
|
24435591
|
IBIS
|
1 / 7739
|
|
26
|
(HPO:0008189)
|
Insulin insensitivity |
|
|
9829282
|
IBIS
|
2 / 7739
|
|
27
|
(HPO:0011675)
|
Arrhythmia |
|
|
24803843
|
IBIS
|
226 / 7739
|
|
28
|
(OMIM)
|
Hyperhydrosis |
|
|
9829282
|
IBIS
|
2 / 7739
|
|
29
|
(OMIM)
|
Myotonia seen on EMG |
|
|
9829282
|
IBIS
|
1 / 7739
|
|
30
|
(OMIM)
|
No mental retardation |
|
|
9829282
|
IBIS
|
5 / 7739
|
|
31
|
(HPO:0000821)
|
Hypothyroidism |
|
|
9829282
|
IBIS
|
141 / 7739
|