Symptom Information: Sort according to HPO 

1
 (HPO:0000298) Mask-like facies Very frequent [Orphanet] 44 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
3
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
4
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
5
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
6
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
7
 (HPO:0008046) Abnormality of the retinal vasculature Occasional [Orphanet] 41 / 7739
8
 (HPO:0100540) Palpebral edema Frequent [Orphanet] 31 / 7739
9
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
10
 (HPO:0200102) Sparse or absent eyelashes Frequent [Orphanet] 64 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (HPO:0000544) External ophthalmoplegia 40 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0001250) Seizures 1245 / 7739
15
 (HPO:0002015) Dysphagia Rare [HPO:probinson] 301 / 7739
16
 (HPO:0002111) Restrictive deficit on pulmonary function testing 25 / 7739
17
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
18
 (HPO:0003547) Shoulder girdle muscle weakness 21 / 7739
19
 (HPO:0003677) Slow progression 134 / 7739
20
 (HPO:0003691) Scapular winging 51 / 7739
21
 (HPO:0003724) Shoulder girdle muscle atrophy 14 / 7739
22
 (HPO:0007763) Retinal telangiectasia 6 / 7739
23
 (HPO:0008970) Scapulohumeral muscular dystrophy 4 / 7739
24
 (HPO:0008981) Calf muscle hypertrophy 28 / 7739
25
 (HPO:0009023) Abdominal wall muscle weakness 12 / 7739
26
 (HPO:0010628) Facial palsy 146 / 7739
27
 (HPO:0011463) Childhood onset 65 / 7739
28
 (HPO:0012231) Exudative retinal detachment 3 / 7739
29
 (HPO:0012473) Tongue atrophy 8 / 7739