Symptom Information: Sort according to HPO 

1
 (HPO:0001263) Global developmental delay Very frequent [IBIS] 100% (n=43) 21266382 IBIS 853 / 7739
2
 (HPO:0008947) Infantile muscular hypotonia Very frequent [IBIS] 100% (n=43) 21266382 IBIS 482 / 7739
3
 (HPO:0011800) Midface retrusion Very frequent [IBIS] 90% (n=39) 21266382 IBIS 221 / 7739
4
 (HPO:0003128) Lactic acidosis Very frequent [IBIS] 11156535 IBIS 116 / 7739
5
 (HPO:0004902) Congenital lactic acidosis Very frequent [IBIS] 21266382 IBIS 2 / 7739
6
 (OMIM) Cytochrome c oxidase deficiency Very frequent [IBIS] 26510951 IBIS 2 / 7739
7
 (HPO:0008972) Decreased activity of mitochondrial respiratory chain Very frequent [IBIS] 26510951 IBIS 34 / 7739
8
 (HPO:0003688) Decreased activity of cytochrome C oxidase in muscle tissue Very frequent [IBIS] 26510951 IBIS 20 / 7739
9
 (HPO:0011220) Prominent forehead Frequent [IBIS] 88% (n=40) 21266382 IBIS 137 / 7739
10
 (HPO:0000431) Wide nasal bridge Frequent [IBIS] 87% (n=38) 21266382 IBIS 290 / 7739
11
 (HPO:0001252) Muscular hypotonia Frequent [IBIS] 58% (n=36) 21266382 IBIS 990 / 7739
12
 (HPO:0002553) Highly arched eyebrow Frequent [IBIS] 58% (n=40) 21266382 IBIS 92 / 7739
13
 (HPO:0000260) Wide anterior fontanel Frequent [IBIS] 58% (n=24) 21266382 IBIS 55 / 7739
14
 (HPO:0001007) Hirsutism Frequent [IBIS] 54% (n=39) 21266382 IBIS 91 / 7739
15
 (HPO:0001337) Tremor Frequent [IBIS] 54% (n=35) 21266382 IBIS 200 / 7739
16
 (HPO:0001508) Failure to thrive Frequent [IBIS] 52% (n=44) 21266382 IBIS 454 / 7739
17
 (HPO:0001251) Ataxia Frequent [IBIS] 48% (n=33) 21266382 IBIS 413 / 7739
18
 (MedDRA:10044403) Transient tachypnoea of the newborn Frequent [IBIS] 47% (n=36) 21266382 IBIS 1 / 7739
19
 (HPO:0002033) Poor suck Frequent [IBIS] 44% (n=36) 21266382 IBIS 37 / 7739
20
 (HPO:0000486) Strabismus Frequent [IBIS] 35% (n=40) 21266382 IBIS 576 / 7739
21
 (MedDRA:10050111) Cardiomyopathy neonatal Frequent [IBIS] 26510951 IBIS 1 / 7739
22
 (HPO:0012443) Abnormality of brain morphology Frequent [IBIS] 26510951 IBIS 45 / 7739
23
 (HPO:0001627) Abnormal heart morphology Frequent [IBIS] 26510951 IBIS 19 / 7739
24
 (HPO:0000664) Synophrys Occasional [IBIS] 26% (n=38) 21266382 IBIS 112 / 7739
25
 (HPO:0001943) Hypoglycemia Occasional [IBIS] 17% (n=36) 21266382 IBIS 131 / 7739
26
 (HPO:0001942) Metabolic acidosis Occasional [IBIS] 17% (n=36) 21266382 IBIS 81 / 7739
27
 (HPO:0001250) Seizures Occasional [IBIS] 13% (n=44) 21266382 IBIS 1245 / 7739
28
 (MedDRA:10028154) Multi-organ failure Rare [IBIS] 3% (n=36) 21266382 IBIS 3 / 7739
29
 (HPO:0000316) Hypertelorism 56% (n=32) 21266382 IBIS 644 / 7739
30
 (HPO:0000750) Delayed speech and language development 21266382 IBIS 197 / 7739
31
 (HPO:0000998) Hypertrichosis 21266382 IBIS 52 / 7739
32
 (HPO:0002066) Gait ataxia 21266382 IBIS 327 / 7739
33
 (HPO:0001324) Muscle weakness 21266382 IBIS 859 / 7739
34
 (HPO:0001270) Motor delay 21266382 IBIS 322 / 7739
35
 (HPO:0002151) Increased serum lactate 26510951 IBIS 92 / 7739
36
 (HPO:0002490) Increased CSF lactate 26510951 IBIS 28 / 7739
37
 (HPO:0002789) Tachypnea 21266382 IBIS 48 / 7739
38
 (HPO:0003074) Hyperglycemia 21266382 IBIS 37 / 7739
39
 (HPO:0007305) CNS demyelination 26510951 IBIS 21 / 7739
40
 (OMIM) Unexpressive facies 21266382 IBIS 1 / 7739
41
 (OMIM) Transient tachypnea of the newborn 21266382 IBIS 1 / 7739
42
 (OMIM) Decreased cytochrome C oxidase activity 26510951 IBIS 2 / 7739
43
 (OMIM) Metabolic crises 21266382 IBIS 2 / 7739
44
 (OMIM) Hyperglycemia during crises 21266382 IBIS 1 / 7739
45
 (OMIM) Decreased cytochrome c oxidase activity in skin fibroblasts, liver, and skeletal muscle 26510951 IBIS 1 / 7739
46
 (HPO:0004900) Severe lactic acidosis 26510951 IBIS 5 / 7739
47
 (OMIM) Hyperlactatemia 21266382 IBIS 3 / 7739
48
 (HPO:0002401) Stroke-like episodes 10072055 IBIS 10 / 7739
49
 (HPO:0012758) Neurodevelopmental delay 26510951 IBIS 949 / 7739
50
 (HPO:0001638) Cardiomyopathy 26510951 IBIS 192 / 7739
51
 (HPO:0002015) Dysphagia 26510951 IBIS 301 / 7739
52
 (HPO:0001332) Dystonia 26510951 IBIS 197 / 7739
53
 (HPO:0003324) Generalized muscle weakness 26510951 IBIS 48 / 7739
54
 (HPO:0004673) Decreased facial expression 21266382 IBIS 5 / 7739
55
 (HPO:0002352) Leukoencephalopathy 26510951 IBIS 32 / 7739
56
 (HPO:0001338) Partial agenesis of the corpus callosum 26510951 IBIS 22 / 7739
57
 (HPO:0001320) Cerebellar vermis hypoplasia 26510951 IBIS 57 / 7739
58
 (HPO:0002126) Polymicrogyria 26510951 IBIS 64 / 7739
59
 (HPO:0000815) Hypergonadotropic hypogonadism 21266382 IBIS 48 / 7739
60
 (HPO:0001950) Respiratory alkalosis 21266382 IBIS 7 / 7739
61
 (HPO:0200117) Recurrent upper and lower respiratory tract infections 21266382 IBIS 4 / 7739
62
 (HPO:0004798) Recurrent infection of the gastrointestinal tract 21266382 IBIS 9 / 7739
63
 (HPO:0001955) Unexplained fevers 21266382 IBIS 7 / 7739