|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
4
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
5
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
6
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
7
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
8
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
|
|
24 / 7739
|
|
9
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
10
|
(HPO:0012548)
|
Fatty replacement of skeletal muscle |
|
|
|
|
8 / 7739
|
|
11
|
(OMIM)
|
Dyspnea due to respiratory muscle weakness |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Muscle weakness, predominantly proximal |
|
|
|
|
4 / 7739
|
|
13
|
(OMIM)
|
Dystrophic changes, mild, seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Lack of integrin alpha-7 staining |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0100543)
|
Cognitive impairment |
frequent [HPO:skoehler]
|
|
|
|
230 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
18
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
|
|
22 / 7739
|