|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
3
|
(HPO:0000298)
|
Mask-like facies |
|
|
|
|
44 / 7739
|
|
4
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
9
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
12
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
13
|
(HPO:0001533)
|
Slender build |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
15
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
16
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
17
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
18
|
(HPO:0002058)
|
Myopathic facies |
|
|
|
|
26 / 7739
|
|
19
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
20
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
21
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
22
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
23
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
24
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
25
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
26
|
(HPO:0005684)
|
Distal arthrogryposis |
|
|
|
|
31 / 7739
|
|
27
|
(HPO:0003306)
|
Spinal rigidity |
|
|
|
|
30 / 7739
|
|
28
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
29
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
30
|
(HPO:0003722)
|
Neck flexor weakness |
|
|
|
|
13 / 7739
|
|
31
|
(HPO:0003803)
|
Type 1 muscle fiber predominance |
|
|
|
|
12 / 7739
|
|
32
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
33
|
(OMIM)
|
Elongated face |
|
|
|
|
4 / 7739
|
|
34
|
(OMIM)
|
Extraocular muscles are not involved |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Tent-shaped mouth |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Poor feeding due to muscle weakness |
|
|
|
|
5 / 7739
|
|
37
|
(Orphanet:46280)
|
Joint/articular deformation |
|
|
|
|
3 / 7739
|
|
38
|
(OMIM)
|
'Stiffness' |
|
|
|
|
5 / 7739
|
|
39
|
(OMIM)
|
Reduced muscle bulk |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
41
|
(OMIM)
|
Proximal limb muscle weakness initially |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Distal limb muscle weakness occurs later |
|
|
|
|
3 / 7739
|
|
43
|
(OMIM)
|
Inability to run |
|
|
|
|
3 / 7739
|
|
44
|
(OMIM)
|
Myopathic changes early in disease seen on EMG |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Neurogenic changes later in disease seen on EMG |
|
|
|
|
2 / 7739
|
|
46
|
(OMIM)
|
Nemaline bodies (rods) on Gomori trichrome staining seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Nemaline bodies are usually subsarcolemmal or sarcoplasmic |
|
|
|
|
2 / 7739
|
|
48
|
(OMIM)
|
Nemaline bodies are rarely intranuclear |
|
|
|
|
2 / 7739
|
|
49
|
(OMIM)
|
Nonspecific myopathic changes without dystrophic or inflammatory changes seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Decreased muscle density on imaging |
|
|
|
|
2 / 7739
|
|
51
|
(OMIM)
|
Increased fatty infiltration |
|
|
|
|
2 / 7739
|
|
52
|
(OMIM)
|
Severe form shows absence of spontaneous activity at birth |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Severe form may never achieve sitting or walking |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Absent gag reflex |
|
|
|
|
4 / 7739
|
|
55
|
(OMIM)
|
Slow gross motor activity |
|
|
|
|
2 / 7739
|
|
56
|
(OMIM)
|
Normal fine motor activity |
|
|
|
|
2 / 7739
|
|
57
|
(OMIM)
|
Normal or mildly increased serum creatine kinase |
|
|
|
|
6 / 7739
|