|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
6
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0002111)
|
Restrictive deficit on pulmonary function testing |
|
|
|
|
25 / 7739
|
|
8
|
(HPO:0002421)
|
Poor head control |
|
|
|
|
23 / 7739
|
|
9
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
10
|
(HPO:0002792)
|
Reduced vital capacity |
|
|
|
|
17 / 7739
|
|
11
|
(HPO:0002877)
|
Nocturnal hypoventilation |
|
|
|
|
9 / 7739
|
|
12
|
(HPO:0003306)
|
Spinal rigidity |
|
|
|
|
30 / 7739
|
|
13
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
14
|
(HPO:0003327)
|
Axial muscle weakness |
|
|
|
|
10 / 7739
|
|
15
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
|
|
24 / 7739
|
|
16
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0005991)
|
Limited neck flexion |
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
20
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
21
|
(OMIM)
|
Flat thorax |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Limited flexion |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
24
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
25
|
(OMIM)
|
Merosin-positive biopsy |
|
|
|
|
5 / 7739
|
|
26
|
(OMIM)
|
Myofibrillar lesions |
|
|
|
|
3 / 7739
|
|
27
|
(OMIM)
|
Hyaline plaques with absent oxidative activity |
|
|
|
|
3 / 7739
|
|
28
|
(OMIM)
|
Amorphous granulofilamentous material associated with Z-discs |
|
|
|
|
3 / 7739
|
|
29
|
(OMIM)
|
Plaques immunoreactive for desmin and alpha-beta-crystallin |
|
|
|
|
3 / 7739
|
|
30
|
(OMIM)
|
Type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria |
|
|
|
|
5 / 7739
|
|
31
|
(OMIM)
|
Minicore regions are poorly defined and do not extend through entire fiber length |
|
|
|
|
5 / 7739
|
|
32
|
(OMIM)
|
Dystrophic changes may be present |
|
|
|
|
5 / 7739
|
|
33
|
(OMIM)
|
Mallory-like bodies |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Nasal, high-pitched voice |
|
|
|
|
3 / 7739
|