|
1
|
(HPO:0001510)
|
Growth delay |
Very frequent [IBIS]
|
100% (n=13)
|
19185551
|
IBIS
|
295 / 7739
|
|
2
|
(HPO:0003233)
|
Hypoalphalipoproteinemia |
Very frequent [IBIS]
|
100% (n=11)
|
19185551
|
IBIS
|
18 / 7739
|
|
3
|
(HPO:0002155)
|
Hypertriglyceridemia |
Very frequent [IBIS]
|
91% (n=11)
|
19185551
|
IBIS
|
67 / 7739
|
|
4
|
(HPO:0001406)
|
Intrahepatic cholestasis |
Very frequent [IBIS]
|
|
26109823
|
IBIS
|
16 / 7739
|
|
5
|
(HPO:0010909)
|
Abnormality of arginine metabolism |
Very frequent [IBIS]
|
|
26109823
|
IBIS
|
3 / 7739
|
|
6
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [IBIS]
|
|
17323144
|
IBIS
|
45 / 7739
|
|
7
|
(HPO:0000952)
|
Jaundice |
Frequent [IBIS]
|
87% (n=45)
|
17323144
|
IBIS
|
105 / 7739
|
|
8
|
(HPO:0001987)
|
Hyperammonemia |
Frequent [IBIS]
|
56% (n=9)
|
19185551
|
IBIS
|
50 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
Frequent [IBIS]
|
54% (n=13)
|
19185551
|
IBIS
|
454 / 7739
|
|
10
|
(HPO:0008151)
|
Prolonged prothrombin time |
Frequent [IBIS]
|
50% (n=8)
|
19185551
|
IBIS
|
13 / 7739
|
|
11
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [IBIS]
|
46% (n=13)
|
19185551
|
IBIS
|
467 / 7739
|
|
12
|
(HPO:0002904)
|
Hyperbilirubinemia |
Frequent [IBIS]
|
|
26109823
|
IBIS
|
32 / 7739
|
|
13
|
(HPO:0011966)
|
Elevated plasma citrulline |
Frequent [IBIS]
|
|
26109823
|
IBIS
|
5 / 7739
|
|
14
|
(HPO:0001928)
|
Abnormality of coagulation |
Frequent [IBIS]
|
|
26109823
|
IBIS
|
44 / 7739
|
|
15
|
(HPO:0003231)
|
Hypertyrosinemia |
Frequent [IBIS]
|
|
26109823
|
IBIS
|
8 / 7739
|
|
16
|
(HPO:0003573)
|
Increased total bilirubin |
Frequent [IBIS]
|
|
24586645
|
IBIS
|
10 / 7739
|
|
17
|
(HPO:0001518)
|
Small for gestational age |
Frequent [IBIS]
|
|
19185551
|
IBIS
|
107 / 7739
|
|
18
|
(HPO:0012024)
|
Hypergalactosemia |
Occasional [IBIS]
|
27% (n=30)
|
17323144
|
IBIS
|
6 / 7739
|
|
19
|
(HPO:0004396)
|
Poor appetite |
Occasional [IBIS]
|
25% (n=12)
|
19185551
|
IBIS
|
7 / 7739
|
|
20
|
(HPO:0001903)
|
Anemia |
Occasional [IBIS]
|
23% (n=13)
|
19185551
|
IBIS
|
289 / 7739
|
|
21
|
(HPO:0003124)
|
Hypercholesterolemia |
Occasional [IBIS]
|
18% (n=11)
|
19185551
|
IBIS
|
53 / 7739
|
|
22
|
(HPO:0004923)
|
Hyperphenylalaninemia |
Occasional [IBIS]
|
17% (n=30)
|
17323144
|
IBIS
|
7 / 7739
|
|
23
|
(HPO:0001433)
|
Hepatosplenomegaly |
Occasional [IBIS]
|
15% (n=13)
|
19185551
|
IBIS
|
78 / 7739
|
|
24
|
(HPO:0003235)
|
Hypermethioninemia |
Occasional [IBIS]
|
13% (n=30)
|
17323144
|
IBIS
|
8 / 7739
|
|
25
|
(HPO:0002919)
|
Ketonuria |
Occasional [IBIS]
|
9% (n=11)
|
19185551
|
IBIS
|
18 / 7739
|
|
26
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Occasional [IBIS]
|
8% (n=13)
|
19185551
|
IBIS
|
97 / 7739
|
|
27
|
(HPO:0001399)
|
Hepatic failure |
Occasional [IBIS]
|
|
26109823
|
IBIS
|
80 / 7739
|
|
28
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Occasional [IBIS]
|
|
21424115
|
IBIS
|
60 / 7739
|
|
29
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Rare [IBIS]
|
2% (n=45)
|
17323144
|
IBIS
|
50 / 7739
|
|
30
|
(HPO:0001878)
|
Hemolytic anemia |
Rare [IBIS]
|
2% (n=45)
|
17323144
|
IBIS
|
83 / 7739
|
|
31
|
(HPO:0001541)
|
Ascites |
Rare [IBIS]
|
2% (n=45)
|
17323144
|
IBIS
|
94 / 7739
|
|
32
|
(HPO:0002173)
|
Hypoglycemic seizures |
Rare [IBIS]
|
2% (n=45)
|
17323144
|
IBIS
|
19 / 7739
|
|
33
|
(HPO:0002014)
|
Diarrhea |
Rare [IBIS]
|
2% (n=45)
|
17323144
|
IBIS
|
225 / 7739
|
|
34
|
(HPO:0001254)
|
Lethargy |
Rare [IBIS]
|
2% (n=45)
|
17323144
|
IBIS
|
104 / 7739
|
|
35
|
(HPO:0001394)
|
Cirrhosis |
Rare [IBIS]
|
|
26109823
|
IBIS
|
102 / 7739
|
|
36
|
(HPO:0001637)
|
Abnormality of the myocardium |
Rare [IBIS]
|
|
25381944
|
IBIS
|
76 / 7739
|
|
37
|
(HPO:0002908)
|
Conjugated hyperbilirubinemia |
|
|
24586645
|
IBIS
|
21 / 7739
|
|
38
|
(HPO:0012202)
|
Increased serum bile acid concentration |
|
|
24586645
|
IBIS
|
2 / 7739
|
|
39
|
(HPO:0003354)
|
Hyperthreoninemia |
|
|
24586645
|
IBIS
|
3 / 7739
|
|
40
|
(HPO:0003075)
|
Hypoproteinemia |
|
|
25381944
|
IBIS
|
27 / 7739
|