|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
3
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
4
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
5
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
6
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
7
|
(HPO:0003581)
|
Adult onset |
Common [HPO:probinson]
|
|
|
|
117 / 7739
|
|
8
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
9
|
(HPO:0003791)
|
Deposits immunoreactive to beta-amyloid protein |
Rare [HPO:probinson]
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
|
11
|
(HPO:0009072)
|
Decreased Achilles reflex |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0010546)
|
Muscle fibrillation |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0200101)
|
Decreased/absent ankle reflexes |
|
|
|
|
4 / 7739
|