|
1
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
4
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
5
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
6
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
7
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
8
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
9
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
10
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
11
|
(HPO:0003803)
|
Type 1 muscle fiber predominance |
|
|
|
|
12 / 7739
|
|
12
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
13
|
(OMIM)
|
Type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Cores contain densely packed myofilaments |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Cores have abrupt borders within normal regions of the muscle fiber |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Cores extend along length of muscle fiber |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Changes in sarcoplasmic reticulum and t-tubules |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Increased internal nuclei in skeletal muscle fibers |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Nemaline rods may be observed |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|