Symptom Information: Sort according to HPO 

1
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 24016420 IBIS 467 / 7739
2
 (HPO:0003355) Aminoaciduria Very frequent [Orphanet] 16602095 IBIS 65 / 7739
3
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 16602095 IBIS 45 / 7739
4
 (HPO:0000083) Renal insufficiency 16602095 IBIS 232 / 7739
5
 (HPO:0000096) Glomerulosclerosis 9933329 IBIS 11 / 7739
6
 (HPO:0000105) Enlarged kidneys 9933329 IBIS 30 / 7739
7
 (HPO:0000121) Nephrocalcinosis 9933329 IBIS 57 / 7739
8
 (HPO:0001394) Cirrhosis 22687740 IBIS 102 / 7739
9
 (HPO:0001402) Hepatocellular carcinoma 16602095 IBIS 25 / 7739
10
 (HPO:0001508) Failure to thrive 16602095 IBIS 454 / 7739
11
 (HPO:0001510) Growth delay 16602095 IBIS 295 / 7739
12
 (HPO:0001541) Ascites 16602095 IBIS 94 / 7739
13
 (HPO:0001639) Hypertrophic cardiomyopathy 24016420 IBIS 137 / 7739
14
 (HPO:0001744) Splenomegaly 24498493 IBIS 337 / 7739
15
 (HPO:0001892) Abnormal bleeding 16602095 IBIS 85 / 7739
16
 (HPO:0001928) Abnormality of coagulation 16602095 IBIS 44 / 7739
17
 (HPO:0003010) Prolonged bleeding time 16602095 IBIS 88 / 7739
18
 (HPO:0001943) Hypoglycemia 15877201 IBIS 131 / 7739
19
 (HPO:0001994) Renal Fanconi syndrome 22687740 IBIS 12 / 7739
20
 (HPO:0002239) Gastrointestinal hemorrhage 16602095 IBIS 97 / 7739
21
 (HPO:0002590) Paralytic ileus 2153931 IBIS 4 / 7739
22
 (HPO:0002910) Elevated hepatic transaminases 16602095 IBIS 158 / 7739
23
 (HPO:0003163) Elevated urinary delta-aminolevulinic acid 22687740 IBIS 4 / 7739
24
 (HPO:0003231) Hypertyrosinemia 16602095 IBIS 8 / 7739
25
 (HPO:0003235) Hypermethioninemia 16602095 IBIS 8 / 7739
26
 (HPO:0004298) Abnormality of the abdominal wall 22687740 IBIS 20 / 7739
27
 (HPO:0004348) Abnormality of bone mineral density Occasional [Orphanet] 23311542 IBIS 1 / 7739
28
 (HPO:0004510) Pancreatic islet-cell hyperplasia 8929295 IBIS 9 / 7739
29
 (HPO:0004912) Hypophosphatemic rickets 16602095 IBIS 13 / 7739
30
 (HPO:0006254) Elevated alpha-fetoprotein 22687740; 16602095 IBIS 10 / 7739
31
 (HPO:0006554) Acute hepatic failure 16602095 IBIS 20 / 7739
32
 (HPO:0006949) Episodic peripheral neuropathy 2153931 IBIS 1 / 7739
33
 (HPO:0012573) Global proximal tubulopathy 22687740 IBIS 4 / 7739
34
 (HPO:0002748) Rickets 16602095 IBIS 41 / 7739
35
 (OMIM) Fumarylacetoacetate hydrolase (FAH) deficiency 16602095 IBIS 1 / 7739
36
 (OMIM) Elevated plasma and urine succinylacetone 16602095 IBIS 1 / 7739
37
 (HPO:0002148) Hypophosphatemia 16602095 IBIS 43 / 7739
38
 (HPO:0000952) Jaundice 16602095 IBIS 105 / 7739
39
 (HPO:0003637) Reduced 4-Hydroxyphenylpyruvate dioxygenase activity 16602095 IBIS 3 / 7739
40
 (HPO:0011849) Abnormal bone ossification 16602095 IBIS 35 / 7739
41
 (HPO:0003110) Abnormality of urine homeostasis 16602095 IBIS 9 / 7739
42
 (HPO:0003109) Hyperphosphaturia 22687740 IBIS 18 / 7739
43
 (HPO:0003076) Glycosuria 22687740 IBIS 32 / 7739
44
 (HPO:0000093) Proteinuria 22687740 IBIS 169 / 7739
45
 (HPO:0001271) Polyneuropathy 22687740 IBIS 56 / 7739
46
 (HPO:0001882) Leukopenia 22687740 IBIS 51 / 7739
47
 (HPO:0001873) Thrombocytopenia 22687740 IBIS 224 / 7739
48
 (HPO:0004719) Hyperechogenic kidneys 9933329 IBIS 10 / 7739
49
 (HPO:0002150) Hypercalciuria 9933329 IBIS 45 / 7739
50
 (HPO:0005576) Tubulointerstitial fibrosis 9933329 IBIS 32 / 7739
51
 (HPO:0001276) Hypertonia 2153931 IBIS 317 / 7739
52
 (HPO:0001324) Muscle weakness 2153931 IBIS 859 / 7739
53
 (HPO:0000742) Self-mutilation 2153931 IBIS 27 / 7739