Symptom Information: Sort according to HPO 

1
(HPO:0000662) Nyctalopia rare [HPO:skoehler] 92 / 7739
2
(HPO:0002522) Areflexia of lower limbs 16 / 7739
3
(HPO:0002600) Hyporeflexia of lower limbs 13 / 7739
4
(HPO:0003198) Myopathy 151 / 7739
5
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
6
(HPO:0003388) Easy fatigability 34 / 7739
7
(HPO:0003394) Muscle cramps 106 / 7739
8
(HPO:0003552) Muscle stiffness 23 / 7739
9
(HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
10
(HPO:0003701) Proximal muscle weakness 105 / 7739
11
(HPO:0003738) Exercise-induced myalgia 19 / 7739
12
(HPO:0009005) Weakness of the intrinsic hand muscles 3 / 7739
13
(HPO:0000615) Abnormality of the pupil rare [HPO:skoehler] 39 / 7739
14
(OMIM) Muscle cramps at rest 1 / 7739
15
(OMIM) Muscle biopsy shows increased fiber size variation 1 / 7739
16
(OMIM) Muscle biopsy shows internal nuclei 1 / 7739
17
(OMIM) Muscle biopsy shows fatty infiltration 1 / 7739
18
(OMIM) Tubular aggregates, mainly in type 2 fibers 1 / 7739
19
(OMIM) Tubular aggregates are subsarcolemmal or intermyofibrillar 1 / 7739
20
(OMIM) Tubular aggregates stain for NADH-tetrazolium reductase 1 / 7739
21
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
(HPO:0000544) External ophthalmoplegia rare [HPO:skoehler] 40 / 7739
23
(HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
24
(HPO:0002093) Respiratory insufficiency rare [HPO:skoehler] 410 / 7739
25
(HPO:0002359) Frequent falls 24 / 7739
26
(HPO:0003554) Type 2 muscle fiber atrophy 14 / 7739
27
(HPO:0003581) Adult onset 117 / 7739
28
(HPO:0003677) Slow progression 134 / 7739
29
(HPO:0007126) Proximal amyotrophy 29 / 7739
30
(HPO:0009046) Difficulty running 17 / 7739