|
1
|
(HPO:0003690)
|
Limb muscle weakness |
Very frequent [IBIS]
|
|
25037089
|
IBIS
|
41 / 7739
|
|
2
|
(HPO:0004356)
|
Abnormality of lysosomal metabolism |
|
|
25037089
|
IBIS
|
6 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
25037089
|
IBIS
|
990 / 7739
|
|
4
|
(HPO:0003323)
|
Progressive muscle weakness |
|
|
25037089
|
IBIS
|
17 / 7739
|
|
5
|
(HPO:0000158)
|
Macroglossia |
|
|
25037089
|
IBIS
|
119 / 7739
|
|
6
|
(HPO:0002240)
|
Hepatomegaly |
|
|
25037089
|
IBIS
|
467 / 7739
|
|
7
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
25037089
|
IBIS
|
137 / 7739
|
|
8
|
(HPO:0009051)
|
Increased muscle glycogen content |
|
|
25037089
|
IBIS
|
8 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
25037089
|
IBIS
|
454 / 7739
|
|
10
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
25037089
|
IBIS
|
410 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
25763511
|
IBIS
|
853 / 7739
|
|
12
|
(HPO:0002607)
|
Bowel incontinence |
|
|
25763511
|
IBIS
|
33 / 7739
|
|
13
|
(HPO:0000020)
|
Urinary incontinence |
|
|
25763511
|
IBIS
|
75 / 7739
|
|
14
|
(HPO:0002015)
|
Dysphagia |
|
|
25763511
|
IBIS
|
301 / 7739
|
|
15
|
(HPO:0002617)
|
Aneurysm |
|
|
25763511
|
IBIS
|
34 / 7739
|
|
16
|
(HPO:0011675)
|
Arrhythmia |
|
|
25763511
|
IBIS
|
226 / 7739
|
|
17
|
(HPO:0000539)
|
Abnormality of refraction |
|
|
25763511
|
IBIS
|
6 / 7739
|
|
18
|
(HPO:0100543)
|
Cognitive impairment |
|
|
25763511
|
IBIS
|
230 / 7739
|
|
19
|
(HPO:0011968)
|
Feeding difficulties |
|
|
25763511
|
IBIS
|
240 / 7739
|
|
20
|
(HPO:0001640)
|
Cardiomegaly |
|
|
25763511
|
IBIS
|
81 / 7739
|
|
21
|
(HPO:0009113)
|
Diaphragmatic weakness |
|
|
25763511
|
IBIS
|
12 / 7739
|
|
22
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
24243590
|
IBIS
|
76 / 7739
|
|
23
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
25763511
|
IBIS
|
101 / 7739
|
|
24
|
(HPO:0001270)
|
Motor delay |
|
|
24243590
|
IBIS
|
322 / 7739
|
|
25
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
24243590
|
IBIS
|
214 / 7739
|