|
1
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
|
|
22 / 7739
|
|
7
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
8
|
(HPO:0006466)
|
Ankle contracture |
|
|
|
|
17 / 7739
|
|
9
|
(OMIM)
|
Small head size |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Difficulty walking and climbing stairs |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Muscle pseudohypertrophy |
|
|
|
|
3 / 7739
|
|
12
|
(OMIM)
|
Dystrophic changes seen on muscle biopsy |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Hypoglycosylation of alpha-dystroglycan seen on muscle biopsy |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
No structural brain anomalies |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|