|
1
|
(HPO:0002486)
|
Myotonia |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
2
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
4
|
(HPO:0003326)
|
Myalgia |
Rare [HPO:probinson]
|
|
|
|
143 / 7739
|
|
5
|
(HPO:0003552)
|
Muscle stiffness |
7/9 [HPO:probinson]
|
|
|
|
23 / 7739
|
|
6
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
7/9 [HPO:probinson]
|
|
|
|
42 / 7739
|
|
7
|
(HPO:0003730)
|
EMG: myotonic runs |
|
|
|
|
2 / 7739
|
|
8
|
(HPO:0003740)
|
Myotonia with warm-up phenomenon |
9/9 [HPO:probinson]
|
|
|
|
2 / 7739
|
|
9
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
10
|
(HPO:0010548)
|
Percussion myotonia |
4/9 [HPO:probinson]
|
|
|
|
5 / 7739
|
|
11
|
(HPO:0012899)
|
Handgrip myotonia |
|
|
|
|
2 / 7739
|