|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0003198)
|
Myopathy |
Frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
9
|
(HPO:0000464)
|
Abnormality of the neck |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0000774)
|
Narrow chest |
Occasional [Orphanet]
|
|
|
|
167 / 7739
|
|
11
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
12
|
(HPO:0004326)
|
Cachexia |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
13
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
14
|
(HPO:0003394)
|
Muscle cramps |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
15
|
(HPO:0001557)
|
Prenatal movement abnormality |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
|
16
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
17
|
(HPO:0003028)
|
Abnormality of the ankles |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
18
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
19
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
20
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
21
|
(HPO:0003306)
|
Spinal rigidity |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
22
|
(HPO:0003457)
|
EMG abnormality |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
23
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
24
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
25
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
26
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
27
|
(HPO:0001883)
|
Talipes |
|
|
|
|
12 / 7739
|
|
28
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
29
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
30
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
|
31
|
(OMIM)
|
Floppy neck |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Loss of head control |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Conduction abnormalities |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Stiff spine |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Elbow laxity |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Muscle weakness, severe, proximal and distal |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Axial weakness |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Head drop due to neck muscle weakness |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Dystrophic features and atrophic fibers seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Variability in fiber size |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
42
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
43
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
44
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
45
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
46
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
47
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
48
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
|
|
22 / 7739
|
|
49
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|