Symptom Information: Sort according to HPO 

1
 (HPO:0001639) Hypertrophic cardiomyopathy Very frequent [IBIS] 25589223 IBIS 137 / 7739
2
 (HPO:0003736) Autophagic vacuoles Very frequent [IBIS] 25589223 IBIS 5 / 7739
3
 (HPO:0001249) Intellectual disability Frequent [IBIS] 21415759 IBIS 1089 / 7739
4
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 21415759 IBIS 230 / 7739
5
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 25589223 IBIS 859 / 7739
6
 (HPO:0001695) Cardiac arrest 19318653 IBIS 87 / 7739
7
 (HPO:0001263) Global developmental delay 21161685 IBIS 853 / 7739
8
 (HPO:0001644) Dilated cardiomyopathy 21415759 IBIS 141 / 7739
9
 (HPO:0000505) Visual impairment 17296900 IBIS 297 / 7739
10
 (HPO:0001640) Cardiomegaly 19318653 IBIS 81 / 7739
11
 (HPO:0001685) Myocardial fibrosis 15889279 IBIS 30 / 7739
12
 (HPO:0001700) Myocardial necrosis 15889279 IBIS 6 / 7739
13
 (HPO:0001716) Wolff-Parkinson-White syndrome 21415759 IBIS 21 / 7739
14
 (HPO:0001761) Pes cavus 15505188 IBIS 225 / 7739
15
 (HPO:0003236) Elevated serum creatine phosphokinase 21415759 IBIS 214 / 7739
16
 (HPO:0003458) EMG: myopathic abnormalities 16372318 IBIS 38 / 7739
17
 (HPO:0003546) Exercise intolerance 21161685 IBIS 62 / 7739
18
 (HPO:0003701) Proximal muscle weakness 25589223 IBIS 105 / 7739
19
 (HPO:0003710) Exercise-induced muscle cramps 21415759 IBIS 11 / 7739
20
 (HPO:0011675) Arrhythmia 21415759 IBIS 226 / 7739
21
 (OMIM) Near complete loss of peripheral retinal pigment in males 16751040 IBIS 1 / 7739
22
 (OMIM) Cardiomyocytes have irregular nuclei 15792868 IBIS 1 / 7739
23
 (OMIM) Cardiomyocytes show glycogen accumulation in myofibrils and lysosomes 25589223 IBIS 1 / 7739
24
 (OMIM) Cardiomyocytes contain vacuolated cytoplasm with degenerated mitochondria, glycogen, and granular debris 15792868 IBIS 1 / 7739
25
 (OMIM) Severely decreased or absent LAMP2 protein 21415759 IBIS 1 / 7739
26
 (OMIM) Muscle biopsy shows sarcoplasmic PAS-positive vacuoles 15253947 IBIS 1 / 7739
27
 (OMIM) Indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles 25589223 IBIS 1 / 7739
28
 (OMIM) Vacuolar membranes immunostain with sarcolemmal proteins 25589223 IBIS 1 / 7739
29
 (OMIM) Positive staining for complement C5b-9 membrane attack complex proteins within vacuoles, but not on muscle fiber membrane 15792868 IBIS 1 / 7739
30
 (OMIM) Normal alpha-glucosidase or acid maltase activity (GAA, 606800) 25589223 IBIS 3 / 7739
31
 (OMIM) Cognitive impairment, mild 21415759 IBIS 15 / 7739
32
 (HPO:0001638) Cardiomyopathy Very frequent [Orphanet] 25589223 IBIS 192 / 7739
33
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 25589223 IBIS 949 / 7739
34
 (HPO:0003812) Phenotypic variability 21161685 IBIS 129 / 7739
35
 (HPO:0003715) Myofibrillar myopathy 25589223 IBIS 9 / 7739
36
 (HPO:0011813) Increased cerebral lipofuscin 25589223 IBIS 4 / 7739
37
 (HPO:0030231) Glycogen accumulation in muscle fiber lysosomes 25589223 IBIS 1 / 7739
38
 (HPO:0004309) Ventricular preexcitation 21415759 IBIS 6 / 7739
39
 (HPO:0004756) Ventricular tachycardia 21415759 IBIS 55 / 7739
40
 (HPO:0001962) Palpitations 21415759 IBIS 62 / 7739
41
 (HPO:0100749) Chest pain 21415759 IBIS 92 / 7739
42
 (HPO:0003202) Skeletal muscle atrophy 25589223 IBIS 281 / 7739
43
 (HPO:0002093) Respiratory insufficiency 21415759 IBIS 410 / 7739
44
 (HPO:0003077) Hyperlipidemia 21415759 IBIS 37 / 7739
45
 (HPO:0000822) Hypertension 21415759 IBIS 224 / 7739
46
 (HPO:0012664) Reduced ejection fraction 19318653 IBIS 32 / 7739
47
 (HPO:0001712) Left ventricular hypertrophy 19318653 IBIS 76 / 7739
48
 (HPO:0007988) Macular hypopigmentation 17296900 IBIS 1 / 7739
49
 (HPO:0007814) Retinal pigment epithelial mottling 17296900 IBIS 5 / 7739
50
 (HPO:0000512) Abnormal electroretinogram 17296900 IBIS 61 / 7739
51
 (HPO:0000548) Cone/cone-rod dystrophy 17296900 IBIS 47 / 7739
52
 (HPO:0007663) Reduced visual acuity 17296900 IBIS 100 / 7739
53
 (HPO:0006670) Impaired myocardial contractility 17849364 IBIS 9 / 7739