Symptom Information: Sort according to HPO 

1
 (HPO:0001250) Seizures Frequent [IBIS] Frequent [Orphanet] 23419467 IBIS 1245 / 7739
2
 (HPO:0002133) Status epilepticus Frequent [IBIS] 22000311 IBIS 59 / 7739
3
 (HPO:0001263) Global developmental delay Frequent [IBIS] 23419467 IBIS 853 / 7739
4
 (HPO:0002376) Developmental regression Frequent [IBIS] 23419467 IBIS 74 / 7739
5
 (OMIM) Intractable seizures Frequent [IBIS] 23419467 IBIS 12 / 7739
6
 (HPO:0001410) Decreased liver function Frequent [IBIS] 23419467 IBIS 59 / 7739
7
 (HPO:0011153) Focal motor seizures Frequent [IBIS] 22000311 IBIS 2 / 7739
8
 (HPO:0002123) Generalized myoclonic seizures Frequent [IBIS] 22000311 IBIS 62 / 7739
9
 (HPO:0001638) Cardiomyopathy Occasional [IBIS] 10% 23419467 IBIS 192 / 7739
10
 (HPO:0001635) Congestive heart failure Occasional [IBIS] 23419467 IBIS 232 / 7739
11
 (HPO:0000252) Microcephaly Frequent [Orphanet] 22237560 IBIS 832 / 7739
12
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 23419467 IBIS 990 / 7739
13
 (HPO:0001251) Ataxia 23419467 IBIS 413 / 7739
14
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 15122711 IBIS 327 / 7739
15
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 23419467 IBIS 129 / 7739
16
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 22000311 IBIS 158 / 7739
17
 (HPO:0001276) Hypertonia Frequent [Orphanet] 15122711 IBIS 317 / 7739
18
 (HPO:0000572) Visual loss 23419467 IBIS 272 / 7739
19
 (HPO:0000618) Blindness 23419467 IBIS 124 / 7739
20
 (HPO:0000649) Abnormality of visual evoked potentials 23419467 IBIS 34 / 7739
21
 (HPO:0000726) Dementia 23419467 IBIS 131 / 7739
22
 (HPO:0001272) Cerebellar atrophy 23419467 IBIS 197 / 7739
23
 (HPO:0001336) Myoclonus 23419467 IBIS 115 / 7739
24
 (HPO:0001399) Hepatic failure 23419467 IBIS 80 / 7739
25
 (HPO:0001408) Bile duct proliferation 23419467 IBIS 22 / 7739
26
 (HPO:0001413) Micronodular cirrhosis 15122711 IBIS 11 / 7739
27
 (HPO:0001414) Microvesicular hepatic steatosis 23419467 IBIS 9 / 7739
28
 (HPO:0001508) Failure to thrive 23419467 IBIS 454 / 7739
29
 (HPO:0002013) Vomiting 23419467 IBIS 191 / 7739
30
 (HPO:0002151) Increased serum lactate 23419467 IBIS 92 / 7739
31
 (HPO:0002171) Gliosis 23419467 IBIS 48 / 7739
32
 (HPO:0002240) Hepatomegaly 1861211 IBIS 467 / 7739
33
 (HPO:0002446) Astrocytosis 23419467 IBIS 7 / 7739
34
 (HPO:0002529) Neuronal loss in central nervous system 23419467 IBIS 37 / 7739
35
 (HPO:0002910) Elevated hepatic transaminases 15122711 IBIS 158 / 7739
36
 (HPO:0002922) Increased CSF protein 22000311 IBIS 27 / 7739
37
 (HPO:0003219) Ethylmalonic aciduria 16957900 IBIS 5 / 7739
38
 (HPO:0003535) 3-Methylglutaconic aciduria 23419467 IBIS 10 / 7739
39
 (HPO:0006964) Cerebral cortical neurodegeneration 23419467 IBIS 1 / 7739
40
 (HPO:0100704) Cortical visual impairment 23419467 IBIS 28 / 7739
41
 (HPO:0000505) Visual impairment 15328560 IBIS 297 / 7739
42
 (OMIM) Biopsy shows microvesicular steatosis 23419467 IBIS 1 / 7739
43
 (OMIM) Hepatocyte dropout 23419467 IBIS 1 / 7739
44
 (OMIM) Abnormal bile duct architecture 23419467 IBIS 1 / 7739
45
 (HPO:0008947) Infantile muscular hypotonia 16957900 IBIS 482 / 7739
46
 (OMIM) Decreased mitochondrial respiratory chain complex activity 23419467 IBIS 2 / 7739
47
 (MedDRA:10059396) Mitochondrial DNA depletion 23419467 IBIS 5 / 7739
48
 (OMIM) EEG shows slow frequency high amplitude waves with high frequency polyspikes 23419467 IBIS 1 / 7739
49
 (OMIM) Decreased DNA polymerase-gamma (POLG, 174763) activity 23419467 IBIS 1 / 7739
50
 (HPO:0003678) Rapidly progressive 23419467 IBIS 33 / 7739
51
 (HPO:0012847) Epilepsia partialis continua 23419467 IBIS 1 / 7739
52
 (HPO:0012705) Abnormal metabolic brain imaging by MRS 23419467 IBIS 1 / 7739
53
 (HPO:0012708) Reduced brain N-acetyl aspartate level by MRS 23419467 IBIS 2 / 7739
54
 (HPO:0012707) Elevated brain lactate level by MRS 23419467 IBIS 2 / 7739
55
 (HPO:0012444) Brain atrophy 23419467 IBIS 24 / 7739
56
 (HPO:0002119) Ventriculomegaly 23419467 IBIS 253 / 7739
57
 (HPO:0002353) EEG abnormality 23419467 IBIS 188 / 7739
58
 (OMIM) Normal electroretinogram 23419467 IBIS 4 / 7739
59
 (HPO:0006581) Depletion of mitochondrial DNA in liver 23419467 IBIS 3 / 7739
60
 (HPO:0009141) Depletion of mitochondrial DNA in muscle tissue 23419467 IBIS 5 / 7739
61
 (HPO:0002490) Increased CSF lactate 23419467 IBIS 28 / 7739
62
 (HPO:0011923) Decreased activity of mitochondrial complex I 23419467 IBIS 35 / 7739
63
 (HPO:0011924) Decreased activity of mitochondrial complex III 23419467 IBIS 22 / 7739
64
 (HPO:0008347) Decreased activity of mitochondrial complex IV 23419467 IBIS 31 / 7739
65
 (HPO:0003198) Myopathy 23419467 IBIS 151 / 7739
66
 (HPO:0002579) Gastrointestinal dysmotility 23419467 IBIS 11 / 7739
67
 (HPO:0000590) Progressive external ophthalmoplegia 23419467 IBIS 23 / 7739
68
 (HPO:0012852) Hepatic bridging fibrosis 23419467 IBIS 1 / 7739
69
 (HPO:0001394) Cirrhosis 23419467 IBIS 102 / 7739
70
 (HPO:0002605) Hepatic necrosis 23419467 IBIS 6 / 7739
71
 (HPO:0008972) Decreased activity of mitochondrial respiratory chain 23419467 IBIS 34 / 7739
72
 (OMIM) Portal inflammation 23419467 IBIS 3 / 7739
73
 (OMIM) Oncocytic changes 23419467 IBIS 2 / 7739
74
 (OMIM) Mitochondrial proliferation 23419467 IBIS 4 / 7739
75
 (HPO:0000365) Hearing impairment 16957900 IBIS 539 / 7739
76
 (HPO:0003355) Aminoaciduria 16957900 IBIS 65 / 7739
77
 (HPO:0012448) Delayed myelination 16957900 IBIS 51 / 7739
78
 (HPO:0002059) Cerebral atrophy 16957900 IBIS 171 / 7739
79
 (HPO:0002072) Chorea 23419467 IBIS 53 / 7739
80
 (HPO:0002305) Athetosis 23419467 IBIS 31 / 7739
81
 (HPO:0006790) Cerebral cortex with spongiform changes 22000311 IBIS 2 / 7739
82
 (HPO:0011182) Epileptiform EEG discharges 23419467 IBIS 1 / 7739
83
 (HPO:0007183) Focal T2 hyperintense basal ganglia lesion 23419467 IBIS 6 / 7739
84
 (HPO:0001337) Tremor 22000311 IBIS 200 / 7739