|
1
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
|
3
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
|
|
27 / 7739
|
|
4
|
(HPO:0002878)
|
Respiratory failure |
|
|
10677302
|
IBIS
|
57 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0003306)
|
Spinal rigidity |
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
8
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
|
|
21 / 7739
|
|
9
|
(HPO:0003720)
|
Generalized muscle hypertrophy |
|
|
|
|
8 / 7739
|
|
10
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
|
|
22 / 7739
|
|
11
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
12
|
(HPO:0012036)
|
Sternocleidomastoid amyotrophy |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0012037)
|
Pectoralis amyotrophy |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Wasting of sternocleidomastoid muscles |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Wasting of pectoralis muscles |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Involvement of diaphragm |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Dystrophic changes on biopsy |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
|
|
22 / 7739
|
|
19
|
(OMIM)
|
Deficiency of laminin alpha-2 chain of merosin (LAMA2, 156225) in muscle |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0009113)
|
Diaphragmatic weakness |
|
|
|
|
12 / 7739
|