Symptom Information: Sort according to HPO 

1
 (HPO:0000218) High palate 356 / 7739
2
 (HPO:0000275) Narrow face 76 / 7739
3
 (HPO:0000276) Long face 109 / 7739
4
 (HPO:0000508) Ptosis 459 / 7739
5
 (HPO:0000544) External ophthalmoplegia 40 / 7739
6
 (HPO:0000597) Ophthalmoparesis 71 / 7739
7
 (HPO:0000602) Ophthalmoplegia 56 / 7739
8
 (HPO:0001283) Bulbar palsy 31 / 7739
9
 (HPO:0001319) Neonatal hypotonia 101 / 7739
10
 (HPO:0001374) Congenital hip dislocation 51 / 7739
11
 (HPO:0001508) Failure to thrive 454 / 7739
12
 (HPO:0001558) Decreased fetal movement 74 / 7739
13
 (HPO:0001612) Weak cry 17 / 7739
14
 (HPO:0002015) Dysphagia 301 / 7739
15
 (HPO:0002650) Scoliosis 705 / 7739
16
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
17
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
18
 (HPO:0003121) Limb joint contracture 8 / 7739
19
 (HPO:0003324) Generalized muscle weakness 48 / 7739
20
 (HPO:0003701) Proximal muscle weakness 105 / 7739
21
 (HPO:0010628) Facial palsy 146 / 7739
22
 (HPO:0011968) Feeding difficulties 240 / 7739
23
 (OMIM) Dilated cardiomyopathy has been reported in 1 patient 1 / 7739
24
 (OMIM) Decreased forced vital capacity 3 / 7739
25
 (OMIM) Mechanical ventilation required in severe cases 1 / 7739
26
 (HPO:0001371) Flexion contracture 220 / 7739
27
 (OMIM) Muscle biopsy shows hypotrophy of type 1 muscle fibers 1 / 7739
28
 (OMIM) Type 1 fibers are at least 12% smaller than type 2 fibers 2 / 7739
29
 (OMIM) Increased numbers of type 1 fibers 1 / 7739
30
 (OMIM) Decreased numbers of type 2B fibers 1 / 7739
31
 (OMIM) Centralized nuclei may be seen 1 / 7739