Symptom Information: Sort according to HPO 

1
 (HPO:0000175) Cleft palate 349 / 7739
2
 (HPO:0000218) High palate 356 / 7739
3
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
4
 (HPO:0000369) Low-set ears 372 / 7739
5
 (HPO:0000478) Abnormality of the eye 126 / 7739
6
 (HPO:0001265) Hyporeflexia 208 / 7739
7
 (HPO:0001284) Areflexia 198 / 7739
8
 (HPO:0001270) Motor delay 322 / 7739
9
 (HPO:0001283) Bulbar palsy 31 / 7739
10
 (HPO:0001319) Neonatal hypotonia 101 / 7739
11
 (HPO:0001533) Slender build 11 / 7739
12
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
13
 (HPO:0001558) Decreased fetal movement 74 / 7739
14
 (HPO:0001561) Polyhydramnios 191 / 7739
15
 (HPO:0002015) Dysphagia 301 / 7739
16
 (HPO:0002058) Myopathic facies 26 / 7739
17
 (HPO:0002104) Apnea 106 / 7739
18
 (HPO:0002359) Frequent falls 24 / 7739
19
 (HPO:0002515) Waddling gait 56 / 7739
20
 (HPO:0002650) Scoliosis 705 / 7739
21
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
22
 (HPO:0002803) Congenital contracture 45 / 7739
23
 (HPO:0001371) Flexion contracture 220 / 7739
24
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
25
 (HPO:0005684) Distal arthrogryposis 31 / 7739
26
 (HPO:0003306) Spinal rigidity 30 / 7739
27
 (HPO:0003307) Hyperlordosis 122 / 7739
28
 (HPO:0003324) Generalized muscle weakness 48 / 7739
29
 (HPO:0003445) EMG: neuropathic changes 21 / 7739
30
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
31
 (HPO:0003690) Limb muscle weakness 41 / 7739
32
 (HPO:0003701) Proximal muscle weakness 105 / 7739
33
 (HPO:0003722) Neck flexor weakness 13 / 7739
34
 (HPO:0003798) Nemaline bodies 12 / 7739
35
 (HPO:0003803) Type 1 muscle fiber predominance 12 / 7739
36
 (HPO:0003810) Late-onset distal muscle weakness 4 / 7739
37
 (HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
38
 (HPO:0011968) Feeding difficulties 240 / 7739
39
 (HPO:0010628) Facial palsy 146 / 7739
40
 (OMIM) Extraocular muscles are not involved 2 / 7739
41
 (OMIM) Chest deformities 2 / 7739
42
 (Orphanet:46280) Joint/articular deformation 3 / 7739
43
 (HPO:0000467) Neck muscle weakness 29 / 7739
44
 (OMIM) Proximal limb muscle weakness initially 2 / 7739
45
 (OMIM) Distal limb muscle weakness occurs later 3 / 7739
46
 (OMIM) Inability to run 3 / 7739
47
 (OMIM) Myopathic changes early in disease seen on EMG 2 / 7739
48
 (OMIM) Neurogenic changes later in disease seen on EMG 2 / 7739
49
 (OMIM) Nemaline bodies (rods) on Gomori trichrome staining 1 / 7739
50
 (OMIM) Nemaline bodies are usually subsarcolemmal or sarcoplasmic 2 / 7739
51
 (OMIM) Nemaline bodies are rarely intranuclear 2 / 7739
52
 (OMIM) Muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes 2 / 7739
53
 (OMIM) Cores with lack of oxidative activity and mitochondrial depletion may also be found and extend along length of fiber 1 / 7739
54
 (OMIM) Decreased muscle density on imaging 2 / 7739
55
 (OMIM) Increased fatty infiltration 2 / 7739
56
 (OMIM) Absence of spontaneous activity at birth (severe form) 1 / 7739
57
 (OMIM) Failure to achieve sitting or walking (severe form) 1 / 7739
58
 (OMIM) Absent gag reflex 4 / 7739
59
 (OMIM) Slow gross motor activity 2 / 7739
60
 (OMIM) Normal fine motor activity 2 / 7739
61
 (OMIM) Normal or mildly increased serum creatine kinase 6 / 7739
62
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
63
 (HPO:0003593) Infantile onset 249 / 7739