|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0000597)
|
Ophthalmoparesis |
|
|
|
|
71 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
4
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
5
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
6
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
7
|
(OMIM)
|
Muscle weakness, primarily proximal |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Distal muscle weakness may occur |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Muscle hypertrophy may occur |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Muscle biopsy shows centralized nuclei |
|
|
|
|
3 / 7739
|
|
11
|
(OMIM)
|
Atrophy of type 1 fibers |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Type 1 fiber predominance |
|
|
|
|
9 / 7739
|
|
13
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
14
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|