|
1
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
2
|
(HPO:0100299)
|
Muscle fiber inclusion bodies |
|
|
|
|
3 / 7739
|
|
3
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
4
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
5
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
6
|
(HPO:0000508)
|
Ptosis |
rare [HPO:skoehler]
|
|
|
|
459 / 7739
|
|
7
|
(HPO:0002058)
|
Myopathic facies |
|
|
|
|
26 / 7739
|
|
8
|
(HPO:0002460)
|
Distal muscle weakness |
rare [HPO:skoehler]
|
|
|
|
122 / 7739
|
|
9
|
(HPO:0002515)
|
Waddling gait |
rare [HPO:skoehler]
|
|
|
|
56 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
12
|
(HPO:0003691)
|
Scapular winging |
rare [HPO:skoehler]
|
|
|
|
51 / 7739
|
|
13
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|