|
1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
|
|
141 / 7739
|
|
5
|
(MedDRA:10053240)
|
Glycogen storage disease type VI |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Polyglucosan bodies in perikarya, cortex and cerebellum |
|
|
|
|
2 / 7739
|
|
7
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
9
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
11
|
(HPO:0003326)
|
Myalgia |
|
|
|
|
143 / 7739
|
|
12
|
(OMIM)
|
Lack of independent ambulation |
|
|
|
|
6 / 7739
|
|
13
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
14
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
15
|
(HPO:0012649)
|
Increased inflammatory response |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0003261)
|
Increased IgA level |
|
|
|
|
12 / 7739
|
|
17
|
(HPO:0010975)
|
Abnormality of B cell number |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
19
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
20
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|