|
1
|
(HPO:0001987)
|
Hyperammonemia |
Very frequent [IBIS]
|
|
24413235
|
IBIS
|
50 / 7739
|
|
2
|
(HPO:0011966)
|
Elevated plasma citrulline |
Very Frequent [IBIS]
|
|
24413235
|
IBIS
|
5 / 7739
|
|
3
|
(HPO:0010909)
|
Abnormality of arginine metabolism |
Very Frequent [IBIS]
|
|
20301360
|
IBIS
|
3 / 7739
|
|
4
|
(OMIM)
|
Sudden onset of neuropsychiatric symptoms |
Frequent [IBIS]
|
|
18620775
|
IBIS
|
1 / 7739
|
|
5
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [IBIS]
|
|
22554431
|
IBIS
|
212 / 7739
|
|
6
|
(HPO:0007185)
|
Loss of consciousness |
Frequent [IBIS]
|
|
17323144
|
IBIS
|
9 / 7739
|
|
7
|
(HPO:0001259)
|
Coma |
|
|
21533735
|
IBIS
|
65 / 7739
|
|
8
|
(HPO:0001289)
|
Confusion |
|
|
24182831
|
IBIS
|
36 / 7739
|
|
9
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
18620775
|
IBIS
|
75 / 7739
|
|
10
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
17000460
|
IBIS
|
25 / 7739
|
|
11
|
(HPO:0001733)
|
Pancreatitis |
|
|
18620775
|
IBIS
|
46 / 7739
|
|
12
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
12787807
|
IBIS
|
67 / 7739
|
|
13
|
(HPO:0002181)
|
Cerebral edema |
|
|
16449956
|
IBIS
|
19 / 7739
|
|
14
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
24413235
|
IBIS
|
158 / 7739
|
|
15
|
(OMIM)
|
Nonalcoholic fatty liver disease |
|
|
18620775
|
IBIS
|
1 / 7739
|
|
16
|
(OMIM)
|
Hepatocyte ballooning |
|
|
21647347
|
IBIS
|
1 / 7739
|
|
17
|
(HPO:0004372)
|
Reduced consciousness/confusion |
|
|
24889030
|
IBIS
|
73 / 7739
|
|
18
|
(OMIM)
|
Increased serum pancreatic secretory trypsin inhibitor (PSTI) |
|
|
18620775
|
IBIS
|
1 / 7739
|
|
19
|
(HPO:0002480)
|
Hepatic encephalopathy |
|
|
24182831
|
IBIS
|
6 / 7739
|
|
20
|
(HPO:0002060)
|
Abnormality of the cerebrum |
|
|
24182831
|
IBIS
|
3 / 7739
|
|
21
|
(HPO:0000505)
|
Visual impairment |
|
|
24182831
|
IBIS
|
297 / 7739
|
|
22
|
(HPO:0012228)
|
Tension-type headache |
|
|
21533735
|
IBIS
|
1 / 7739
|
|
23
|
(HPO:0000716)
|
Depression |
|
|
21533735
|
IBIS
|
99 / 7739
|
|
24
|
(HPO:0001260)
|
Dysarthria |
|
|
21533735
|
IBIS
|
329 / 7739
|
|
25
|
(HPO:0009916)
|
Anisocoria |
|
|
21533735
|
IBIS
|
11 / 7739
|
|
26
|
(HPO:0003474)
|
Sensory impairment |
|
|
21533735
|
IBIS
|
54 / 7739
|
|
27
|
(HPO:0001250)
|
Seizures |
|
|
21533735
|
IBIS
|
1245 / 7739
|
|
28
|
(HPO:0003218)
|
Oroticaciduria |
|
|
21533735
|
IBIS
|
10 / 7739
|
|
29
|
(HPO:0000711)
|
Restlessness |
|
|
22554431
|
IBIS
|
18 / 7739
|
|
30
|
(HPO:0100543)
|
Cognitive impairment |
|
|
22554431
|
IBIS
|
230 / 7739
|
|
31
|
(HPO:0000718)
|
Aggressive behavior |
|
|
21647347
|
IBIS
|
109 / 7739
|
|
32
|
(HPO:0001262)
|
Somnolence |
|
|
21647347
|
IBIS
|
20 / 7739
|
|
33
|
(HPO:0000020)
|
Urinary incontinence |
|
|
21647347
|
IBIS
|
75 / 7739
|
|
34
|
(HPO:0002151)
|
Increased serum lactate |
|
|
21647347
|
IBIS
|
92 / 7739
|
|
35
|
(HPO:0001732)
|
Abnormality of the pancreas |
|
|
21647347
|
IBIS
|
5 / 7739
|
|
36
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
11343053
|
IBIS
|
67 / 7739
|
|
37
|
(HPO:0001254)
|
Lethargy |
|
|
18958581
|
IBIS
|
104 / 7739
|
|
38
|
(HPO:0002329)
|
Drowsiness |
|
|
17620496
|
IBIS
|
19 / 7739
|
|
39
|
(HPO:0001249)
|
Intellectual disability |
|
|
12512993
|
IBIS
|
1089 / 7739
|
|
40
|
(HPO:0001510)
|
Growth delay |
|
|
18958581
|
IBIS
|
295 / 7739
|
|
41
|
(HPO:0000737)
|
Irritability |
|
|
24182831
|
IBIS
|
93 / 7739
|
|
42
|
(OMIM)
|
Hyperarginemia |
|
|
20301360
|
IBIS
|
3 / 7739
|