1
|
(HPO:0000114)
|
Proximal tubulopathy |
|
|
|
|
18 / 7739
|
2
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
5
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
7
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
8
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
9
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
10
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
11
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
12
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
13
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
14
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
15
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
16
|
(HPO:0002017)
|
Nausea and vomiting |
|
|
|
|
134 / 7739
|
17
|
(HPO:0002018)
|
Nausea |
|
|
|
|
44 / 7739
|
18
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
19
|
(HPO:0002049)
|
Proximal renal tubular acidosis |
|
|
|
|
8 / 7739
|
20
|
(HPO:0002148)
|
Hypophosphatemia |
|
|
|
|
43 / 7739
|
21
|
(HPO:0002149)
|
Hyperuricemia |
|
|
|
|
37 / 7739
|
22
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
|
|
|
|
97 / 7739
|
23
|
(HPO:0002584)
|
Intestinal bleeding |
|
|
|
|
16 / 7739
|
24
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
25
|
(HPO:0002904)
|
Hyperbilirubinemia |
|
|
|
|
32 / 7739
|
26
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
27
|
(HPO:0003076)
|
Glycosuria |
|
|
|
|
32 / 7739
|
28
|
(HPO:0003109)
|
Hyperphosphaturia |
|
|
|
|
18 / 7739
|
29
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
30
|
(HPO:0003149)
|
Hyperuricosuria |
|
|
|
|
7 / 7739
|
31
|
(HPO:0003646)
|
Bicarbonaturia |
|
|
|
|
3 / 7739
|
32
|
(HPO:0004395)
|
Malnutrition |
|
|
|
|
12 / 7739
|
33
|
(HPO:0005973)
|
Fructose intolerance |
|
|
|
|
2 / 7739
|
34
|
(HPO:0008273)
|
Transient aminoaciduria |
|
|
|
|
1 / 7739
|
35
|
(OMIM)
|
Absent dental caries |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Aversion to sweets and fruit |
|
|
|
|
1 / 7739
|
37
|
(OMIM)
|
Fructosemia |
|
|
|
|
1 / 7739
|
38
|
(OMIM)
|
Fructose-1,6-bisphosphate aldolase B deficiency |
|
|
|
|
1 / 7739
|