Symptom Information: Sort according to HPO 

1
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
2
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
3
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
4
 (HPO:0000544) External ophthalmoplegia 40 / 7739
5
 (HPO:0000597) Ophthalmoparesis 71 / 7739
6
 (HPO:0000602) Ophthalmoplegia 56 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0001250) Seizures 1245 / 7739
9
 (HPO:0002015) Dysphagia 301 / 7739
10
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
11
 (HPO:0003691) Scapular winging 51 / 7739
12
 (HPO:0008981) Calf muscle hypertrophy 28 / 7739
13
 (HPO:0009023) Abdominal wall muscle weakness 12 / 7739
14
 (HPO:0012231) Exudative retinal detachment 3 / 7739
15
 (HPO:0012473) Tongue atrophy 8 / 7739
16
 (OMIM) Facial muscle weakness and atrophy 1 / 7739
17
 (OMIM) Retinal vasculopathy 5 / 7739
18
 (OMIM) Peripheral retinal telangiectasia, capillary closure, leakage, and microaneurysm formation 1 / 7739
19
 (OMIM) Macular exudates and hemorrhages 1 / 7739
20
 (OMIM) Restrictive pulmonary dysfunction 1 / 7739
21
 (OMIM) Shoulder girdle muscle weakness and atrophy, progressive 1 / 7739
22
 (OMIM) Facial muscle weakness and atrophy, progressive 1 / 7739
23
 (OMIM) Upper arm and pelvic muscle weakness and atrophy (later onset) 1 / 7739
24
 (OMIM) Foot extensor muscle weakness (later onset) 1 / 7739
25
 (OMIM) Wheelchair dependency in 20% of patients by age 40 1 / 7739
26
 (OMIM) Skeletal muscle biopsy shows dystrophic changes 3 / 7739
27
 (OMIM) Abnormal changes in the organization of the sarcolemma and the subsarcolemmal membrane cytoskeleton 1 / 7739
28
 (HPO:0001327) Photomyoclonic seizures 125 / 7739