|
1
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
2
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
3
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
|
|
21 / 7739
|
|
4
|
(HPO:0003749)
|
Pelvic girdle muscle weakness |
|
|
|
|
15 / 7739
|
|
5
|
(HPO:0006203)
|
Decreased movement range in interphalangeal joints |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0006785)
|
Limb-girdle muscular dystrophy |
|
|
|
|
14 / 7739
|
|
7
|
(HPO:0008116)
|
Flexion limitation of toes |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0008948)
|
Proximal upper limb amyotrophy |
|
|
|
|
3 / 7739
|
|
9
|
(HPO:0008956)
|
Proximal lower limb amyotrophy |
|
|
|
|
5 / 7739
|
|
10
|
(OMIM)
|
Flexion limitation of fingers, progressive, permanent |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Flexion limitation of toes, progressive, permanent |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Hyporeflexia in affected muscles |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Biopsy shows myopathic changes |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
15
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
17
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
18
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|