|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
4
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
5
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
|
6
|
(HPO:0001638)
|
Cardiomyopathy |
rare [HPO:skoehler]
|
|
|
|
192 / 7739
|
|
7
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
8
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
9
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
10
|
(HPO:0003306)
|
Spinal rigidity |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
|
|
22 / 7739
|
|
12
|
(HPO:0003388)
|
Easy fatigability |
|
|
|
|
34 / 7739
|
|
13
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
14
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
15
|
(OMIM)
|
Joint contractures, mild |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Difficulty walking, running, climbing stairs |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Muscle pseudohypertrophy |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Decreased glycosylation of alpha-dystroglycan |
|
|
|
|
6 / 7739
|
|
19
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
|
20
|
(OMIM)
|
No structural brain abnormalities seen on MRI |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
23
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
24
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|