Symptom Information: Sort according to HPO 

1
 (HPO:0003200) Ragged-red muscle fibers Very frequent [IBIS] 25337734 IBIS 37 / 7739
2
 (HPO:0002353) EEG abnormality Frequent [IBIS] 73% (n=15) 25559684 IBIS 188 / 7739
3
 (HPO:0003457) EMG abnormality Frequent [IBIS] Very frequent [Orphanet] 67% (n=15) 25559684 IBIS 78 / 7739
4
 (HPO:0002151) Increased serum lactate Frequent [IBIS] 67% (n=15) 25559684 IBIS 92 / 7739
5
 (HPO:0003128) Lactic acidosis Frequent [IBIS] 67% (n=15) 25559684 IBIS 116 / 7739
6
 (HPO:0003546) Exercise intolerance Frequent [IBIS] 67% (n=15) 25559684 IBIS 62 / 7739
7
 (HPO:0003458) EMG: myopathic abnormalities Frequent [IBIS] 67% (n=15) 25559684 IBIS 38 / 7739
8
 (HPO:0003688) Decreased activity of cytochrome C oxidase in muscle tissue Frequent [IBIS] 60% (n=15) 25559684 IBIS 20 / 7739
9
 (HPO:0002093) Respiratory insufficiency Frequent [IBIS] 60% (n=15) 25559684 IBIS 410 / 7739
10
 (HPO:0001324) Muscle weakness Frequent [IBIS] 53% (n=15) 25559684 IBIS 859 / 7739
11
 (HPO:0009830) Peripheral neuropathy Frequent [IBIS] 47% (n=15) 25559684 IBIS 206 / 7739
12
 (HPO:0001638) Cardiomyopathy Frequent [IBIS] 47% (n=15) 25559684 IBIS 192 / 7739
13
 (HPO:0003116) Abnormal echocardiogram Frequent [IBIS] 47% (n=15) 25559684 IBIS 33 / 7739
14
 (HPO:0001250) Seizures Frequent [IBIS] Very frequent [Orphanet] 40% (n=15) 25559684 IBIS 1245 / 7739
15
 (HPO:0001336) Myoclonus Frequent [IBIS] 40% (n=15) 25559684 IBIS 115 / 7739
16
 (HPO:0030319) Weakness of facial musculature Frequent [IBIS] 40% (n=15) 25559684 IBIS 4 / 7739
17
 (HPO:0002197) Generalized seizures Frequent [IBIS] 40% (n=15) 25559684 IBIS 30 / 7739
18
 (HPO:0011675) Arrhythmia Frequent [IBIS] 40% (n=15) 25559684 IBIS 226 / 7739
19
 (HPO:0000365) Hearing impairment Frequent [IBIS] 40% (n=15) 25559684 IBIS 539 / 7739
20
 (HPO:0002069) Generalized tonic-clonic seizures Frequent [IBIS] 33.3% (n=15) 25559684 IBIS 96 / 7739
21
 (HPO:0003390) Sensory axonal neuropathy Frequent [IBIS] 25337734 IBIS 26 / 7739
22
 (HPO:0007002) Motor axonal neuropathy Frequent [IBIS] 25337734 IBIS 17 / 7739
23
 (HPO:0012032) Lipoma Occasional [IBIS] Very frequent [Orphanet] hallmark [HPO] 20% (n=15) 25559684 IBIS 10 / 7739
24
 (HPO:0100543) Cognitive impairment Occasional [IBIS] 20% (n=15) 25559684 IBIS 230 / 7739
25
 (HPO:0001268) Mental deterioration Occasional [IBIS] 20% (n=15) 25559684 IBIS 88 / 7739
26
 (HPO:0000508) Ptosis Occasional [IBIS] 20% (n=15) 25559684 IBIS 459 / 7739
27
 (HPO:0100275) Diffuse cerebellar atrophy Occasional [IBIS] 20% (n=15) 25559684 IBIS 2 / 7739
28
 (HPO:0002506) Diffuse cerebral atrophy Occasional [IBIS] 20% (n=15) 25559684 IBIS 9 / 7739
29
 (HPO:0001251) Ataxia Occasional [IBIS] Very frequent [Orphanet] hallmark [HPO] 13% (n=15) 25559684 IBIS 413 / 7739
30
 (HPO:0001712) Left ventricular hypertrophy Occasional [IBIS] 13% (n=15) 25559684 IBIS 76 / 7739
31
 (HPO:0010852) EEG with photoparoxysmal response Occasional [IBIS] 13% (n=15) 25559684 IBIS 7 / 7739
32
 (HPO:0002076) Migraine Occasional [IBIS] 13% (n=15) 25559684 IBIS 41 / 7739
33
 (HPO:0000708) Behavioral abnormality Occasional [IBIS] 13% (n=15) 25559684 IBIS 212 / 7739
34
 (HPO:0001392) Abnormality of the liver Occasional [IBIS] 13% (n=15) 25559684 IBIS 28 / 7739
35
 (HPO:0000818) Abnormality of the endocrine system Occasional [IBIS] 13% (n=15) 25559684 IBIS 26 / 7739
36
 (HPO:0002094) Dyspnea Occasional [IBIS] 13% (n=15) 25559684 IBIS 132 / 7739
37
 (HPO:0001962) Palpitations Occasional [IBIS] 13% (n=15) 25559684 IBIS 62 / 7739
38
 (HPO:0011712) Right bundle branch block Occasional [IBIS] 13% (n=15) 25559684 IBIS 34 / 7739
39
 (HPO:0000716) Depression Occasional [IBIS] 13% (n=15) 25559684 IBIS 99 / 7739
40
 (HPO:0000836) Hyperthyroidism Occasional [IBIS] 13% (n=15) 25559684 IBIS 25 / 7739
41
 (HPO:0000135) Hypogonadism Occasional [IBIS] 13% (n=15) 25559684 IBIS 89 / 7739
42
 (HPO:0001639) Hypertrophic cardiomyopathy Rare [IBIS] 7% (n=15) 25559684 IBIS 137 / 7739
43
 (HPO:0000597) Ophthalmoparesis Rare [IBIS] 7% (n=15) 25559684 IBIS 71 / 7739
44
 (MedDRA:10057576) Cardiac septal hypertrophy Rare [IBIS] 7% (n=15) 25559684 IBIS 4 / 7739
45
 (HPO:0002092) Pulmonary hypertension Rare [IBIS] 7% (n=15) 25559684 IBIS 109 / 7739
46
 (HPO:0011703) Sinus tachycardia Rare [IBIS] 7% (n=15) 25559684 IBIS 5 / 7739
47
 (HPO:0004755) Supraventricular tachycardia Rare [IBIS] 7% (n=15) 25559684 IBIS 20 / 7739
48
 (HPO:0004756) Ventricular tachycardia Rare [IBIS] 7% (n=15) 25559684 IBIS 55 / 7739
49
 (OMIM) Ventricular tachycardia, nonsustained Rare [IBIS] 7% (n=15) 25559684 IBIS 4 / 7739
50
 (HPO:0006682) Ventricular extrasystoles Rare [IBIS] 7% (n=15) 25559684 IBIS 25 / 7739
51
 (HPO:0001716) Wolff-Parkinson-White syndrome Rare [IBIS] 7% (n=15) 25559684 IBIS 21 / 7739
52
 (MedDRA:10049694) Left ventricular dysfunction Rare [IBIS] 7% (n=15) 25559684 IBIS 10 / 7739
53
 (OMIM) Left ventricular dilatation (1 patient) Rare [IBIS] 7% (n=15) 25559684 IBIS 5 / 7739
54
 (HPO:0002376) Developmental regression Rare [IBIS] 7% (n=15) 25559684 IBIS 74 / 7739
55
 (HPO:0001397) Hepatic steatosis Rare [IBIS] 7% (n=15) 25559684 IBIS 75 / 7739
56
 (HPO:0001406) Intrahepatic cholestasis Rare [IBIS] 7% (n=15) 25559684 IBIS 16 / 7739
57
 (HPO:0006580) Portal fibrosis Rare [IBIS] 7% (n=15) 25559684 IBIS 10 / 7739
58
 (HPO:0002401) Stroke-like episodes Rare [IBIS] 7% (n=15) 25559684 IBIS 10 / 7739
59
 (HPO:0002079) Hypoplasia of the corpus callosum Rare [IBIS] 7% (n=15) 25559684 IBIS 161 / 7739
60
 (HPO:0002500) Abnormality of the cerebral white matter Rare [IBIS] 7% (n=15) 25559684 IBIS 73 / 7739
61
 (HPO:0012128) Basal ganglia necrosis Rare [IBIS] 7% (n=15) 25559684 IBIS 3 / 7739
62
 (HPO:0002363) Abnormality of brainstem morphology Rare [IBIS] 7% (n=15) 25559684 IBIS 14 / 7739
63
 (HPO:0010663) Abnormality of thalamus morphology Rare [IBIS] 7% (n=15) 25559684 IBIS 6 / 7739
64
 (HPO:0003236) Elevated serum creatine phosphokinase Frequent [Orphanet] 60% (n=15) 25559684 IBIS 214 / 7739
65
 (HPO:0002133) Status epilepticus Very frequent [Orphanet] 25559684 IBIS 59 / 7739
66
 (HPO:0004322) Short stature Frequent [Orphanet] 23549648 IBIS 1232 / 7739
67
 (HPO:0003198) Myopathy Very frequent [Orphanet] 25337734 IBIS 151 / 7739
68
 (HPO:0001012) Multiple lipomas Very frequent [Orphanet] 25559684 IBIS 43 / 7739
69
 (HPO:0002141) Gait imbalance Very frequent [Orphanet] 18657354 IBIS 55 / 7739
70
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 23549648 IBIS 524 / 7739
71
 (HPO:0000648) Optic atrophy Occasional [Orphanet] 23549648 IBIS 238 / 7739
72
 (HPO:0001263) Global developmental delay Frequent [Orphanet] 26679672 IBIS 853 / 7739
73
 (HPO:0001252) Muscular hypotonia 10566210 IBIS 990 / 7739
74
 (HPO:0002123) Generalized myoclonic seizures 25337734 IBIS 62 / 7739
75
 (HPO:0003542) Increased serum pyruvate 26679672 IBIS 18 / 7739
76
 (HPO:0003737) Mitochondrial myopathy 25337734 IBIS 18 / 7739
77
 (MedDRA:10054859) Myoclonic epilepsy 25337734 IBIS 7 / 7739
78
 (HPO:0003287) Abnormality of mitochondrial metabolism 25337734 IBIS 12 / 7739
79
 (HPO:0000726) Dementia 23549648 IBIS 131 / 7739
80
 (HPO:0000763) Sensory neuropathy 25337734 IBIS 78 / 7739
81
 (HPO:0002490) Increased CSF lactate 25337734 IBIS 28 / 7739
82
 (HPO:0008180) Mildly elevated creatine phosphokinase 25337734 IBIS 28 / 7739
83
 (HPO:0001337) Tremor 26679672 IBIS 200 / 7739
84
 (HPO:0012378) Fatigue 26679672 IBIS 50 / 7739
85
 (HPO:0003648) Lacticaciduria 26679672 IBIS 6 / 7739
86
 (HPO:0001326) EEG with irregular generalized spike and wave complexes 26679672 IBIS 3 / 7739
87
 (OMIM) Impaired fine motor skills 18657354 IBIS 2 / 7739
88
 (HPO:0002194) Delayed gross motor development 18657354 IBIS 37 / 7739
89
 (HPO:0005185) Global systolic dysfunction 25559684 IBIS 3 / 7739
90
 (MedDRA:10050510) Ventricular hypokinesia 25559684 IBIS 5 / 7739
91
 (HPO:0011663) Right ventricular cardiomyopathy 25559684 IBIS 17 / 7739
92
 (HPO:0001399) Hepatic failure 25559684 IBIS 80 / 7739
93
 (HPO:0012115) Hepatitis 25559684 IBIS 24 / 7739
94
 (HPO:0003202) Skeletal muscle atrophy 25559684 IBIS 281 / 7739
95
 (HPO:0000969) Edema 25559684 IBIS 117 / 7739
96
 (HPO:0012548) Fatty replacement of skeletal muscle 25559684 IBIS 8 / 7739
97
 (HPO:0008972) Decreased activity of mitochondrial respiratory chain 25559684 IBIS 34 / 7739