Symptom Information: Sort according to HPO 

1
 (HPO:0001508) Failure to thrive Very frequent [IBIS] 100% (n=4) 25691415 IBIS 454 / 7739
2
 (HPO:0001994) Renal Fanconi syndrome Very frequent [IBIS] 100% (n=4) 25691415 IBIS 12 / 7739
3
 (HPO:0003128) Lactic acidosis Very frequent [IBIS] 100% (n=4) 25691415 IBIS 116 / 7739
4
 (HPO:0012573) Global proximal tubulopathy Very frequent [IBIS] 100% (n=4) 25691415 IBIS 4 / 7739
5
 (HPO:0000124) Renal tubular dysfunction Very frequent [IBIS] 100% (n=4) 25691415 IBIS 46 / 7739
6
 (HPO:0001738) Exocrine pancreatic insufficiency Very frequent [IBIS] 100% (n=4) 25691415 IBIS 23 / 7739
7
 (HPO:0012145) Abnormality of multiple cell lineages in the bone marrow Very frequent [IBIS] 100% (n=4) 25691415 IBIS 11 / 7739
8
 (HPO:0001903) Anemia Frequent [IBIS] Very frequent [Orphanet] 75% (n=4) 25691415 IBIS 289 / 7739
9
 (HPO:0005528) Bone marrow hypocellularity Frequent [IBIS] 75% (n=4) 25691415 IBIS 31 / 7739
10
 (HPO:0002719) Recurrent infections Frequent [IBIS] 75% (n=4) 25691415 IBIS 107 / 7739
11
 (HPO:0003572) Low plasma citrulline Frequent [IBIS] 75% (n=4) 25691415 IBIS 7 / 7739
12
 (HPO:0001252) Muscular hypotonia Frequent [IBIS] Very frequent [Orphanet] 50% (n=4) 25691415 IBIS 990 / 7739
13
 (HPO:0001876) Pancytopenia Frequent [IBIS] 50% (n=4) 25691415 IBIS 89 / 7739
14
 (HPO:0001873) Thrombocytopenia Frequent [IBIS] 50% (n=4) 25691415 IBIS 224 / 7739
15
 (HPO:0001942) Metabolic acidosis Occasional [IBIS] 25% (n=4) 25691415 IBIS 81 / 7739
16
 (HPO:0008872) Feeding difficulties in infancy Occasional [IBIS] 25% (n=4) 25691415 IBIS 153 / 7739
17
 (HPO:0001875) Neutropenia Occasional [IBIS] 25% (n=4) 25691415 IBIS 83 / 7739
18
 (HPO:0001396) Cholestasis Occasional [IBIS] 25% (n=4) 25691415 IBIS 136 / 7739
19
 (HPO:0001254) Lethargy Occasional [IBIS] 25% (n=4) 25691415 IBIS 104 / 7739
20
 (HPO:0012093) Abnormality of endocrine pancreas physiology Occasional [IBIS] 25% (n=4) 25691415 IBIS 4 / 7739
21
 (HPO:0100027) Recurrent pancreatitis Occasional [IBIS] 25% (n=4) 25691415 IBIS 3 / 7739
22
 (HPO:0001735) Acute pancreatitis Occasional [IBIS] 25% (n=4) 25691415 IBIS 6 / 7739
23
 (HPO:0001737) Pancreatic cysts Occasional [IBIS] 25% (n=4) 25691415 IBIS 15 / 7739
24
 (HPO:0005961) Hypoargininemia Occasional [IBIS] 25% (n=4) 25691415 IBIS 7 / 7739
25
 (HPO:0012025) Abnormality of ornithine metabolism Occasional [IBIS] 25% (n=4) 25691415 IBIS 1 / 7739
26
 (HPO:0002901) Hypocalcemia Occasional [IBIS] 25% (n=4) 25691415 IBIS 56 / 7739
27
 (HPO:0001281) Tetany Occasional [IBIS] 25% (n=4) 25691415 IBIS 20 / 7739
28
 (HPO:0011273) Anisocytosis Occasional [IBIS] 25% (n=4) 25691415 IBIS 8 / 7739
29
 (HPO:0002013) Vomiting Occasional [IBIS] 10% (n=21) 7581370 IBIS 191 / 7739
30
 (HPO:0002039) Anorexia Rare [IBIS] 5% (n=21) 7581370 IBIS 62 / 7739
31
 (HPO:0011902) Abnormal hemoglobin Very frequent [Orphanet] 25691415 IBIS 18 / 7739
32
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 25691415 IBIS 105 / 7739
33
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 25691415 IBIS 142 / 7739
34
 (HPO:0012090) Abnormality of pancreas morphology Very frequent [Orphanet] 25691415 IBIS 31 / 7739
35
 (HPO:0001992) Organic aciduria Very frequent [Orphanet] 25691415 IBIS 28 / 7739
36
 (HPO:0100651) Type I diabetes mellitus Very frequent [Orphanet] 22424738 IBIS 44 / 7739
37
 (HPO:0003344) 3-Methylglutaric aciduria 1447663 IBIS 6 / 7739
38
 (HPO:0100732) Pancreatic fibrosis 25691415 IBIS 12 / 7739
39
 (OMIM) Exocrine pancreatic dysfunction 25691415 IBIS 1 / 7739
40
 (OMIM) Vacuolization of marrow precursors 7581370 IBIS 1 / 7739
41
 (OMIM) Mitochondrial deletions 25691415 IBIS 1 / 7739
42
 (OMIM) Increased ketone body or lactate/pyruvate plasma ratios 25691415 IBIS 1 / 7739
43
 (HPO:0012091) Abnormality of pancreas physiology Very frequent [Orphanet] 25691415 IBIS 3 / 7739
44
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 25691415 IBIS 492 / 7739
45
 (HPO:0000846) Adrenal insufficiency 22424738 IBIS 24 / 7739
46
 (HPO:0003689) Multiple mitochondrial DNA deletions 25691415 IBIS 12 / 7739
47
 (HPO:0001924) Sideroblastic anemia 25691415 IBIS 12 / 7739
48
 (HPO:0002028) Chronic diarrhea 25691415 IBIS 51 / 7739
49
 (HPO:0003076) Glycosuria 25691415 IBIS 32 / 7739
50
 (HPO:0003355) Aminoaciduria 25691415 IBIS 65 / 7739
51
 (HPO:0005518) Erythrocyte macrocytosis 25691415 IBIS 13 / 7739
52
 (HPO:0001972) Macrocytic anemia 25691415 IBIS 26 / 7739
53
 (HPO:0001395) Hepatic fibrosis 25691415 IBIS 67 / 7739
54
 (HPO:0000980) Pallor 25691415 IBIS 52 / 7739
55
 (HPO:0002919) Ketonuria 25691415 IBIS 18 / 7739
56
 (HPO:0000816) Abnormality of Krebs cycle metabolism 25691415 IBIS 3 / 7739
57
 (HPO:0000093) Proteinuria 25691415 IBIS 169 / 7739
58
 (HPO:0002910) Elevated hepatic transaminases 25691415 IBIS 158 / 7739
59
 (HPO:0003155) Elevated alkaline phosphatase 25691415 IBIS 52 / 7739
60
 (HPO:0012544) Elevated aldolase level 25691415 IBIS 1 / 7739
61
 (HPO:0009025) Increased connective tissue 25691415 IBIS 11 / 7739
62
 (HPO:0200119) Acute hepatitis 25691415 IBIS 2 / 7739
63
 (HPO:0001397) Hepatic steatosis 25691415 IBIS 75 / 7739
64
 (HPO:0001980) Megaloblastic bone marrow 25691415 IBIS 5 / 7739
65
 (HPO:0002240) Hepatomegaly 25691415 IBIS 467 / 7739
66
 (MedDRA:10048804) Kearns-Sayre syndrome 25691415 IBIS 1 / 7739
67
 (OMIM) 3-hydroxyisobutyric aciduria 25691415 IBIS 2 / 7739
68
 (HPO:0009886) Trichorrhexis nodosa 25691415 IBIS 12 / 7739
69
 (HPO:0001596) Alopecia 25691415 IBIS 162 / 7739
70
 (HPO:0003112) Abnormality of serum amino acid levels 25691415 IBIS 2 / 7739
71
 (HPO:0003287) Abnormality of mitochondrial metabolism 25691415 IBIS 12 / 7739
72
 (OMIM) Heteroplasmic mtDNA deletion 25691415 IBIS 2 / 7739
73
 (HPO:0003648) Lacticaciduria 25691415 IBIS 6 / 7739
74
 (HPO:0003161) 4-Hydroxyphenylpyruvic aciduria 25691415 IBIS 4 / 7739
75
 (MedDRA:10028154) Multi-organ failure 22424738 IBIS 3 / 7739
76
 (HPO:0000818) Abnormality of the endocrine system 22424738 IBIS 26 / 7739