Symptom Information: Sort according to HPO 

1
 (HPO:0001942) Metabolic acidosis Very frequent [IBIS] 26937387 IBIS 81 / 7739
2
 (HPO:0011968) Feeding difficulties Very frequent [IBIS] 26937387 IBIS 240 / 7739
3
 (HPO:0001263) Global developmental delay Very frequent [IBIS] 26937387 IBIS 853 / 7739
4
 (HPO:0001399) Hepatic failure Frequent [IBIS] 79% (n=14) 26937387 IBIS 80 / 7739
5
 (HPO:0002151) Increased serum lactate Frequent [IBIS] 64% (n=14) 26937387 IBIS 92 / 7739
6
 (HPO:0000252) Microcephaly Frequent [IBIS] 50% (n=14) 26937387 IBIS 832 / 7739
7
 (HPO:0003128) Lactic acidosis Frequent [IBIS] 36% (n=14) 26937387 IBIS 116 / 7739
8
 (HPO:0001252) Muscular hypotonia Frequent [IBIS] 26937387 IBIS 990 / 7739
9
 (HPO:0001276) Hypertonia Frequent [IBIS] 26937387 IBIS 317 / 7739
10
 (HPO:0001511) Intrauterine growth retardation Occasional [IBIS] 29% (n=14) 26937387 IBIS 358 / 7739
11
 (HPO:0001250) Seizures Occasional [IBIS] 21% (n=14) 26937387 IBIS 1245 / 7739
12
 (HPO:0002079) Hypoplasia of the corpus callosum Occasional [IBIS] 21% (n=14) 26937387 IBIS 161 / 7739
13
 (HPO:0001998) Neonatal hypoglycemia Occasional [IBIS] 21% (n=14) 26937387 IBIS 22 / 7739
14
 (HPO:0000639) Nystagmus Occasional [IBIS] 14% (n=14) 26937387 IBIS 555 / 7739
15
 (HPO:0000817) Poor eye contact Occasional [IBIS] 14% (n=14) 26937387 IBIS 26 / 7739
16
 (HPO:0001257) Spasticity Occasional [IBIS] 14% (n=14) 26937387 IBIS 251 / 7739
17
 (HPO:0001396) Cholestasis Occasional [IBIS] 14% (n=14) 26937387 IBIS 136 / 7739
18
 (HPO:0002240) Hepatomegaly Occasional [IBIS] 14% (n=14) 26937387 IBIS 467 / 7739
19
 (HPO:0002490) Increased CSF lactate Occasional [IBIS] 14% (n=14) 26937387 IBIS 28 / 7739
20
 (HPO:0001332) Dystonia Occasional [IBIS] 14% (n=14) 26937387 IBIS 197 / 7739
21
 (HPO:0001410) Decreased liver function Occasional [IBIS] 14% (n=14) 26937387 IBIS 59 / 7739
22
 (HPO:0002126) Polymicrogyria Occasional [IBIS] 14% (n=14) 26937387 IBIS 64 / 7739
23
 (HPO:0001347) Hyperreflexia Rare [IBIS] 7% (n=14) 26937387 IBIS 363 / 7739
24
 (HPO:0002375) Hypokinesia Rare [IBIS] 7% (n=14) 26937387 IBIS 25 / 7739
25
 (HPO:0006799) Basal ganglia cysts Rare [IBIS] 7% (n=14) 26937387 IBIS 6 / 7739
26
 (HPO:0012448) Delayed myelination Rare [IBIS] 7% (n=14) 26937387 IBIS 51 / 7739
27
 (HPO:0001271) Polyneuropathy Rare [IBIS] 7% (n=14) 26937387 IBIS 56 / 7739
28
 (HPO:0002904) Hyperbilirubinemia Rare [IBIS] 7% (n=14) 26937387 IBIS 32 / 7739
29
 (HPO:0003073) Hypoalbuminemia Rare [IBIS] 7% (n=14) 26937387 IBIS 40 / 7739
30
 (HPO:0001397) Hepatic steatosis Rare [IBIS] 7% (n=14) 26937387 IBIS 75 / 7739
31
 (HPO:0001541) Ascites Rare [IBIS] 7% (n=14) 26937387 IBIS 94 / 7739
32
 (HPO:0003256) Abnormality of the coagulation cascade Rare [IBIS] 7% (n=14) 26937387 IBIS 19 / 7739
33
 (HPO:0002878) Respiratory failure Rare [IBIS] 7% (n=14) 26937387 IBIS 57 / 7739
34
 (HPO:0001408) Bile duct proliferation Rare [IBIS] 7% (n=14) 26937387 IBIS 22 / 7739
35
 (HPO:0000799) Renal steatosis Rare [IBIS] 7% (n=14) 26937387 IBIS 6 / 7739
36
 (HPO:0002132) Porencephaly Rare [IBIS] 7% (n=14) 26937387 IBIS 18 / 7739
37
 (HPO:0001562) Oligohydramnios Rare [IBIS] 7% (n=14) 26937387 IBIS 75 / 7739
38
 (HPO:0002179) Opisthotonus Rare [IBIS] 7% (n=14) 26937387 IBIS 35 / 7739
39
 (HPO:0004372) Reduced consciousness/confusion Rare [IBIS] 7% (n=14) 26937387 IBIS 73 / 7739
40
 (HPO:0007738) Uncontrolled eye movements Rare [IBIS] 7% (n=14) 26937387 IBIS 3 / 7739
41
 (HPO:0002058) Myopathic facies Rare [IBIS] 7% (n=14) 26937387 IBIS 26 / 7739
42
 (HPO:0001999) Abnormal facial shape Rare [IBIS] 7% (n=14) 26937387 IBIS 169 / 7739
43
 (HPO:0000508) Ptosis Rare [IBIS] 7% (n=14) 26937387 IBIS 459 / 7739
44
 (HPO:0002119) Ventriculomegaly Rare [IBIS] 7% (n=14) 26937387 IBIS 253 / 7739
45
 (HPO:0002013) Vomiting Rare [IBIS] 7% (n=14) 26937387 IBIS 191 / 7739
46
 (HPO:0000280) Coarse facial features Rare [IBIS] 7% (n=14) 26937387 IBIS 189 / 7739
47
 (HPO:0001320) Cerebellar vermis hypoplasia Rare [IBIS] 7% (n=14) 26937387 IBIS 57 / 7739
48
 (HPO:0002059) Cerebral atrophy Rare [IBIS] 7% (n=14) 26937387 IBIS 171 / 7739
49
 (HPO:0000047) Hypospadias Rare [IBIS] 7% (n=14) 26937387 IBIS 250 / 7739
50
 (HPO:0002521) Hypsarrhythmia Rare [IBIS] 7% (n=14) 26937387 IBIS 43 / 7739
51
 (HPO:0001508) Failure to thrive Rare [IBIS] 7% (n=14) 26937387 IBIS 454 / 7739
52
 (HPO:0000486) Strabismus Rare [IBIS] 7% (n=14) 26937387 IBIS 576 / 7739
53
 (HPO:0001394) Cirrhosis Rare [IBIS] 7% (n=14) 26937387 IBIS 102 / 7739
54
 (HPO:0000807) Glandular hypospadias Rare [IBIS] 7% (n=14) 26937387 IBIS 3 / 7739
55
 (HPO:0002415) Leukodystrophy Rare [IBIS] 7% (n=14) 26937387 IBIS 30 / 7739
56
 (HPO:0002283) Global brain atrophy 26937387 IBIS 12 / 7739
57
 (OMIM) Liver necrosis 26937387 IBIS 2 / 7739
58
 (OMIM) 'Stiffness' 26937387 IBIS 5 / 7739
59
 (OMIM) Metabolic acidosis, severe 26937387 IBIS 2 / 7739
60
 (OMIM) Increased serum direct bilirubin 26937387 IBIS 1 / 7739
61
 (HPO:0007371) Corpus callosum atrophy 26937387 IBIS 14 / 7739
62
 (OMIM) Increased iron deposition seen on liver biopsy 26937387 IBIS 2 / 7739
63
 (OMIM) Agenesis of the cingulate gyrus 26937387 IBIS 2 / 7739
64
 (OMIM) Borderline microcephaly 26937387 IBIS 3 / 7739
65
 (OMIM) Wandering eye movements 26937387 IBIS 2 / 7739
66
 (HPO:0011923) Decreased activity of mitochondrial complex I 26937387 IBIS 35 / 7739
67
 (HPO:0008347) Decreased activity of mitochondrial complex IV 26937387 IBIS 31 / 7739
68
 (HPO:0011924) Decreased activity of mitochondrial complex III 26937387 IBIS 22 / 7739
69
 (HPO:0011925) Decreased activity of mitochondrial ATP synthase complex 26937387 IBIS 10 / 7739