|
1
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
2
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
3
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
4
|
(OMIM)
|
Facial weakness, mild |
|
|
|
|
6 / 7739
|
|
5
|
(OMIM)
|
Rare ventricular extrasystoles |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Scapular winging, mild |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Proximal muscle weakness, limb-girdle distribution |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Limb muscle atrophy |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Muscle biopsy shows dystrophic features |
|
|
|
|
3 / 7739
|
|
10
|
(OMIM)
|
Type 2 fiber predominance |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
No myofibrillar abnormalities or protein aggregation |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
13
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
14
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|