|
1
|
(HPO:0001761)
|
Pes cavus |
rare [HPO:skoehler]
|
|
|
|
225 / 7739
|
|
2
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
5
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
|
6
|
(HPO:0009005)
|
Weakness of the intrinsic hand muscles |
|
|
|
|
3 / 7739
|
|
7
|
(HPO:0009046)
|
Difficulty running |
|
|
|
|
17 / 7739
|
|
8
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
9
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
10
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
11
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
12
|
(OMIM)
|
Limb muscle weakness and atrophy, distal, neurogenic |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Muscle weakness and atrophy, proximal |
|
|
|
|
5 / 7739
|
|
14
|
(OMIM)
|
Triceps weakness |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Exertional leg pain |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Neurogenic atrophy see on muscle biopsy |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Angular atrophic fibers |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Lower limbs weakness and atrophy, distal |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Lower limb weakness, proximal |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Upper limb weakness |
|
|
|
|
5 / 7739
|
|
21
|
(OMIM)
|
Loss of ankle reflexes |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Inability to stand on toes |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Denervation seen on EMG |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
25
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
26
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
27
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|