|
1
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
2
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
3
|
(HPO:0002312)
|
Clumsiness |
|
|
|
|
28 / 7739
|
|
4
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
5
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
6
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
8
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
9
|
(HPO:0003694)
|
Late-onset proximal muscle weakness |
|
|
|
|
3 / 7739
|
|
10
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
11
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
|
12
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
13
|
(OMIM)
|
Contractures of the hands, mild |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Atrophy of thenar muscles |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Atrophy of intrinsic hand muscles |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Atrophy of intrinsic foot muscles |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Distal muscle weakness, upper and lower limbs |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Asymmetric muscle involvement |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Proximal muscle weakness occurs later |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
MRI shows fatty infiltration of affected muscles |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Muscle biopsy shows rimmed vacuoles |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
23
|
(OMIM)
|
Normal or mildly increased serum creatine kinase |
|
|
|
|
6 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
25
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|