Symptom Information: Sort according to HPO 

1
 (HPO:0001263) Global developmental delay Very frequent [IBIS] 100% (n=4) 27536553 IBIS 853 / 7739
2
 (HPO:0003573) Increased total bilirubin Very frequent [IBIS] 100% (n=4) 27536553 IBIS 10 / 7739
3
 (HPO:0000639) Nystagmus 27536553 IBIS 555 / 7739
4
 (HPO:0001251) Ataxia 20074988 IBIS 413 / 7739
5
 (HPO:0001265) Hyporeflexia 16909392 IBIS 208 / 7739
6
 (HPO:0001284) Areflexia 16909392 IBIS 198 / 7739
7
 (HPO:0001394) Cirrhosis 20074988 IBIS 102 / 7739
8
 (HPO:0001403) Macrovesicular hepatic steatosis 16909392 IBIS 7 / 7739
9
 (HPO:0001414) Microvesicular hepatic steatosis 16909392 IBIS 9 / 7739
10
 (HPO:0001508) Failure to thrive 20074988 IBIS 454 / 7739
11
 (HPO:0001760) Abnormality of the foot 16909392 IBIS 96 / 7739
12
 (HPO:0001943) Hypoglycemia 27536553 IBIS 131 / 7739
13
 (HPO:0002013) Vomiting 27536553 IBIS 191 / 7739
14
 (HPO:0002014) Diarrhea 20074988 IBIS 225 / 7739
15
 (HPO:0002240) Hepatomegaly 16909392 IBIS 467 / 7739
16
 (HPO:0002460) Distal muscle weakness 16909392 IBIS 122 / 7739
17
 (HPO:0002910) Elevated hepatic transaminases 16909392 IBIS 158 / 7739
18
 (HPO:0003128) Lactic acidosis 27536553 IBIS 116 / 7739
19
 (HPO:0003380) Decreased number of peripheral myelinated nerve fibers 16909392 IBIS 30 / 7739
20
 (HPO:0004322) Short stature 27536553 IBIS 1232 / 7739
21
 (HPO:0006554) Acute hepatic failure 16909392 IBIS 20 / 7739
22
 (HPO:0006579) Prolonged neonatal jaundice 27536553 IBIS 25 / 7739
23
 (HPO:0007021) Pain insensitivity 16909392 IBIS 35 / 7739
24
 (HPO:0007141) Sensorimotor neuropathy 20074988 IBIS 27 / 7739
25
 (OMIM) Biopsy shows multinucleated giant cells 18261905 IBIS 1 / 7739
26
 (OMIM) Pseudo-acini 18261905 IBIS 1 / 7739
27
 (MedDRA:10021950) Inflammations 18261905 IBIS 2 / 7739
28
 (MedDRA:10061218) Inflammation 18261905 IBIS 2 / 7739
29
 (HPO:0001396) Cholestasis 27536553 IBIS 136 / 7739
30
 (OMIM) Bridging fibrosis 18261905 IBIS 1 / 7739
31
 (OMIM) Mitochondrial DNA depletion in liver tissue 16909392 IBIS 1 / 7739
32
 (OMIM) Progressive white matter lesions in the brain 16909392 IBIS 1 / 7739
33
 (HPO:0001252) Muscular hypotonia 27536553 IBIS 990 / 7739
34
 (HPO:0001324) Muscle weakness 16909392 IBIS 859 / 7739
35
 (HPO:0008947) Infantile muscular hypotonia 16909392 IBIS 482 / 7739
36
 (OMIM) Progressive sensorimotor neuropathy 16909392 IBIS 1 / 7739
37
 (OMIM) Delayed motor nerve conduction velocities 16909392 IBIS 2 / 7739
38
 (HPO:0100806) Sepsis 20074988 IBIS 48 / 7739
39
 (HPO:0003676) Progressive disorder 18261905 IBIS 148 / 7739
40
 (HPO:0012804) Corneal ulceration 185990 IBIS 6 / 7739
41
 (HPO:0012155) Decreased corneal sensation 16909392 IBIS 5 / 7739
42
 (HPO:0001397) Hepatic steatosis 27536553 IBIS 75 / 7739
43
 (HPO:0001399) Hepatic failure 27536553 IBIS 80 / 7739
44
 (HPO:0007178) Motor polyneuropathy 27536553 IBIS 31 / 7739
45
 (HPO:0000121) Nephrocalcinosis 27536553 IBIS 57 / 7739
46
 (HPO:0006581) Depletion of mitochondrial DNA in liver 16909392 IBIS 3 / 7739
47
 (HPO:0000742) Self-mutilation 18261905 IBIS 27 / 7739
48
 (HPO:0003474) Sensory impairment 16909392 IBIS 54 / 7739
49
 (HPO:0001155) Abnormality of the hand 16909392 IBIS 54 / 7739
50
 (HPO:0007328) Impaired pain sensation 16909392 IBIS 10 / 7739
51
 (HPO:0000952) Jaundice 16909392 IBIS 105 / 7739
52
 (OMIM) Portal inflammation 27536553 IBIS 3 / 7739
53
 (OMIM) Septal fibrosis 27536553 IBIS 2 / 7739
54
 (HPO:0000762) Decreased nerve conduction velocity 16909392 IBIS 36 / 7739
55
 (HPO:0002500) Abnormality of the cerebral white matter 16909392 IBIS 73 / 7739
56
 (HPO:0000829) Hypoparathyroidism 20074988 IBIS 22 / 7739
57
 (HPO:0000091) Abnormality of the renal tubule 20074988 IBIS 15 / 7739
58
 (HPO:0002020) Gastroesophageal reflux 20074988 IBIS 101 / 7739
59
 (HPO:0009141) Depletion of mitochondrial DNA in muscle tissue 20074988 IBIS 5 / 7739
60
 (HPO:0008972) Decreased activity of mitochondrial respiratory chain 20074988 IBIS 34 / 7739
61
 (HPO:0011923) Decreased activity of mitochondrial complex I 20074988 IBIS 35 / 7739
62
 (HPO:0008347) Decreased activity of mitochondrial complex IV 20074988 IBIS 31 / 7739
63
 (HPO:0011924) Decreased activity of mitochondrial complex III 20074988 IBIS 22 / 7739
64
 (HPO:0006558) Decreased mitochondrial complex III activity in liver tissue 20074988 IBIS 3 / 7739
65
 (HPO:0001402) Hepatocellular carcinoma 20074988 IBIS 25 / 7739
66
 (HPO:0000559) Corneal scarring 20074988 IBIS 9 / 7739
67
 (HPO:0003202) Skeletal muscle atrophy 20074988 IBIS 281 / 7739
68
 (HPO:0001410) Decreased liver function 20074988 IBIS 59 / 7739
69
 (HPO:0001336) Myoclonus 20074988 IBIS 115 / 7739