|
1
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
2
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
3
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
4
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0003736)
|
Autophagic vacuoles |
|
|
|
|
5 / 7739
|
|
7
|
(OMIM)
|
Biopsy shows cardiomyocytes with PAS-positive vacuoles |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Increased lysosomal glycogen |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Neonatal hypotonia Muscle biopsy shows PAS-positive vacuoles |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Biopsy shows deposition of complement proteins C5b-9 of the membrane attack complex on muscle fibers or in vacuoles |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Normal LAMP2 staining (309060) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Normal alpha-glucosidase or acid maltase activity (GAA, 606800) |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
14
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|