|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
6
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
7
|
(HPO:0001349)
|
Facial diplegia |
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
9
|
(HPO:0002058)
|
Myopathic facies |
|
|
|
|
26 / 7739
|
|
10
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
11
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
12
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
13
|
(HPO:0002792)
|
Reduced vital capacity |
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
15
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
16
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
17
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
18
|
(HPO:0003798)
|
Nemaline bodies |
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0003803)
|
Type 1 muscle fiber predominance |
|
|
|
|
12 / 7739
|
|
20
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
21
|
(OMIM)
|
Decreased left ventricular ejection fraction (reported in 1 patient) |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Decreased vital capacity due to muscle weakness |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
24
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
25
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
26
|
(OMIM)
|
Increased variability of fiber size seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Type 1 fiber predominance seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Type 1 fiber atrophy seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Subsarcolemmal nemaline bodies (rods) on Gomori trichrome staining |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Abnormal irregular myofibrillar network |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Cap structures, when present, contain disorganized myofibrils and thickened Z bands |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Delayed motor milestones due to muscle weakness |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
34
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|