|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0000544)
|
External ophthalmoplegia |
|
|
|
|
40 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
7
|
(HPO:0003388)
|
Easy fatigability |
|
|
|
|
34 / 7739
|
|
8
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
9
|
(HPO:0003687)
|
Centrally nucleated skeletal muscle fibers |
|
|
|
|
15 / 7739
|
|
10
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
11
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
rare [HPO]
|
|
|
|
42 / 7739
|
|
12
|
(HPO:0005335)
|
Sleepy facial expression |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|