|
1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
3
|
(HPO:0000097)
|
Focal segmental glomerulosclerosis |
|
|
|
|
37 / 7739
|
|
4
|
(HPO:0000790)
|
Hematuria |
|
|
|
|
106 / 7739
|
|
5
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
6
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
|
7
|
(HPO:0000991)
|
Xanthomatosis |
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
|
|
25 / 7739
|
|
9
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
11
|
(HPO:0001946)
|
Ketosis |
|
|
|
|
17 / 7739
|
|
12
|
(HPO:0001997)
|
Gout |
|
|
|
|
18 / 7739
|
|
13
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
|
|
109 / 7739
|
|
14
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
15
|
(HPO:0002884)
|
Hepatoblastoma |
|
|
|
|
11 / 7739
|
|
16
|
(HPO:0003077)
|
Hyperlipidemia |
|
|
|
|
37 / 7739
|
|
17
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
18
|
(HPO:0006280)
|
Chronic pancreatitis |
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0012213)
|
Decreased glomerular filtration rate |
|
|
|
|
21 / 7739
|
|
20
|
(HPO:0012522)
|
Spider hemangioma |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Growth lag |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
T2 transport protein (Phosphate-pyrophosphate translocase) defect |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Lipidemia |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0002149)
|
Hyperuricemia |
|
|
|
|
37 / 7739
|
|
25
|
(OMIM)
|
[DEL]Liver adenomas |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0001039)
|
Atheroeruptive xanthoma |
|
|
|
|
9 / 7739
|
|
27
|
(HPO:0001114)
|
Xanthelasma |
|
|
|
|
13 / 7739
|
|
28
|
(OMIM)
|
Spider angioma |
|
|
|
|
1 / 7739
|
|
29
|
(MedDRA:10018641)
|
Gouty tophus |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
No leukocyte dysfunction |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|