|
1
|
(HPO:0002792)
|
Reduced vital capacity |
|
|
|
|
17 / 7739
|
|
2
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
3
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
|
4
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
5
|
(HPO:0007181)
|
Interosseus muscle atrophy |
|
|
|
|
3 / 7739
|
|
6
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|
|
7
|
(HPO:0009053)
|
Distal lower limb muscle weakness |
|
|
|
|
13 / 7739
|
|
8
|
(HPO:0009113)
|
Diaphragmatic weakness |
|
|
|
|
12 / 7739
|
|
9
|
(OMIM)
|
Decreased respiratory vital capacity |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
11
|
(OMIM)
|
Early and severe foot extensor muscle involvement |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Primarily affects distal lower limbs |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Secondary hand muscle weakness predominating at the wrist and finger extensor muscles |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Secondary involvement of proximal and trunk muscles |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Late diaphragmatic involvement |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
EMG shows neurogenic abnormalities |
|
|
|
|
8 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|